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Genetic Epilepsy v0.225 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 22182342; 17236139
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
Review for gene: CUL4B was set to GREEN
gene: CUL4B was marked as current diagnostic
Added comment: ~30% of reported individuals have had seizures.
Sources: Expert list
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence)
Genetic Epilepsy v0.224 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.223 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Review for gene: CTNNA2 was set to GREEN
Added comment: 13 children from three unrelated families reported, epilepsy is part of the phenotype
Sources: Literature
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Classified gene: CREBBP as Green List (high evidence)
Genetic Epilepsy v0.222 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.221 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CREBBP were set to 29460469
Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1, MIM# 618332
Review for gene: CREBBP was set to GREEN
gene: CREBBP was marked as current diagnostic
Added comment: Exon 30 and 31 CREBBP variants cause a syndrome distinct from Rubinstein-Taybi and according to this case series 21% have epilepsy
Sources: Expert list
Genetic Epilepsy v0.220 COX15 Zornitza Stark Marked gene: COX15 as ready
Genetic Epilepsy v0.220 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.220 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.219 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; MIM#615119 and Leigh syndrome #256000
Genetic Epilepsy v0.218 COX15 Zornitza Stark Publications for gene: COX15 were set to
Genetic Epilepsy v0.217 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.216 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Genetic Epilepsy v0.216 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 12474143, 15863660, 15235026,; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MIM#615119 and Leigh syndrome #256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.215 COX10 Zornitza Stark Marked gene: COX10 as ready
Genetic Epilepsy v0.215 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.215 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Genetic Epilepsy v0.214 COX10 Zornitza Stark Publications for gene: COX10 were set to
Genetic Epilepsy v0.213 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.212 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Genetic Epilepsy v0.212 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.211 COX10 Zornitza Stark reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.211 COQ6 Zornitza Stark Publications for gene: COQ6 were set to 21540551
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.210 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.209 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Classified gene: COQ6 as Amber List (moderate evidence)
Genetic Epilepsy v0.208 COQ6 Zornitza Stark Gene: coq6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.207 COQ6 Zornitza Stark reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.207 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from Congenital disorder of glycosylation, type IIh, 611182 to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.206 COG8 Zornitza Stark Marked gene: COG8 as ready
Genetic Epilepsy v0.206 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.206 COG8 Zornitza Stark Publications for gene: COG8 were set to 28619360; 17220172; 17331980
Genetic Epilepsy v0.206 COG8 Zornitza Stark Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, 611182
Genetic Epilepsy v0.205 COG8 Zornitza Stark Publications for gene: COG8 were set to
Genetic Epilepsy v0.205 COG8 Zornitza Stark Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.204 COG8 Zornitza Stark Classified gene: COG8 as Amber List (moderate evidence)
Genetic Epilepsy v0.204 COG8 Zornitza Stark Gene: cog8 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.203 COG8 Zornitza Stark reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: None; Publications: 28619360, 17220172, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.887 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Mendeliome v0.887 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Green List (High Evidence).
Mendeliome v0.887 HOXB6 Zornitza Stark Phenotypes for gene: HOXB6 were changed from to Hypospadias
Mendeliome v0.886 HOXB6 Zornitza Stark Publications for gene: HOXB6 were set to
Mendeliome v0.885 HOXB6 Zornitza Stark Mode of inheritance for gene: HOXB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.884 LIFR Zornitza Stark Marked gene: LIFR as ready
Mendeliome v0.884 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Mendeliome v0.884 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559; CAKUT
Mendeliome v0.883 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.882 LIFR Zornitza Stark Publications for gene: LIFR were set to
Mendeliome v0.881 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.203 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Coenzyme Q10 deficiency, primary, 6, MIM#614650 to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Marked gene: COG6 as ready
Genetic Epilepsy v0.202 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.202 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650
Genetic Epilepsy v0.202 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.201 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Genetic Epilepsy v0.201 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG6 Zornitza Stark reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.200 COG4 Zornitza Stark Marked gene: COG4 as ready
Genetic Epilepsy v0.200 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.200 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from Congenital disorder of glycosylation, type IIj, MIM#613489 to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, MIM#613489
Genetic Epilepsy v0.199 COG4 Zornitza Stark Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.198 COG4 Zornitza Stark Classified gene: COG4 as Amber List (moderate evidence)
Genetic Epilepsy v0.198 COG4 Zornitza Stark Gene: cog4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.197 COG4 Zornitza Stark reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIj, MIM#613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.197 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 27479907; 27616479
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Genetic Epilepsy v0.196 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM# 617159
Genetic Epilepsy v0.195 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Classified gene: CHD4 as Red List (low evidence)
Genetic Epilepsy v0.194 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.193 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: RED; Mode of pathogenicity: None; Publications: 27479907, 27616479; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.193 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, 617507
Genetic Epilepsy v0.192 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Genetic Epilepsy v0.191 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CCDC88A Zornitza Stark reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1640 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1639 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mendeliome v0.880 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Mendeliome v0.880 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Mendeliome v0.880 CACNA1B Zornitza Stark Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Mendeliome v0.879 CACNA1B Zornitza Stark Publications for gene: CACNA1B were set to
Mendeliome v0.878 CACNA1B Zornitza Stark Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.877 CACNA1B Zornitza Stark reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Marked gene: CACNA1B as ready
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Classified gene: CACNA1B as Green List (high evidence)
Genetic Epilepsy v0.190 CACNA1B Zornitza Stark Gene: cacna1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.189 CACNA1B Zornitza Stark gene: CACNA1B was added
gene: CACNA1B was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497
Review for gene: CACNA1B was set to GREEN
gene: CACNA1B was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Marked gene: ATP6V1A as ready
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Classified gene: ATP6V1A as Green List (high evidence)
Genetic Epilepsy v0.188 ATP6V1A Zornitza Stark Gene: atp6v1a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.187 ATP6V1A Zornitza Stark gene: ATP6V1A was added
gene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 29668857; 28065471
Phenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403
Review for gene: ATP6V1A was set to GREEN
gene: ATP6V1A was marked as current diagnostic
Added comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures.
Sources: Expert list
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Classified gene: ATP6V0A2 as Green List (high evidence)
Genetic Epilepsy v0.186 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.185 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 18157129; 22773132
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200
Review for gene: ATP6V0A2 was set to GREEN
gene: ATP6V0A2 was marked as current diagnostic
Added comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2.
Sources: Expert list
Callosome v0.59 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.59 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Mendeliome v0.877 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Mendeliome v0.877 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.58 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.876 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1638 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1637 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Mendeliome v0.875 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1636 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1635 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Mendeliome v0.874 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Mendeliome v0.874 NTNG2 Zornitza Stark Publications for gene: NTNG2 were set to
Mendeliome v0.873 NTNG2 Zornitza Stark Phenotypes for gene: NTNG2 were changed from to Intellectual disability; autism; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1634 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703
Phenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features
Review for gene: NTNG2 was set to GREEN
Added comment: 16 individuals from 7 unrelated families.
Sources: Literature
Mendeliome v0.872 NTNG2 Zornitza Stark Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 NTNG2 Zornitza Stark reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.871 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.871 RPL13 Zornitza Stark Classified gene: RPL13 as Green List (high evidence)
Mendeliome v0.871 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Mendeliome v0.870 RPL13 Zornitza Stark gene: RPL13 was added
gene: RPL13 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Review for gene: RPL13 was set to GREEN
Added comment: Four unrelated individuals reported with de novo variants.
Sources: Literature
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Marked gene: RPL13 as ready
Skeletal dysplasia v0.7 RPL13 Zornitza Stark Gene: rpl13 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.7 RPL13 Zornitza Stark reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.869 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Mendeliome v0.869 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.869 FOXJ1 Zornitza Stark Phenotypes for gene: FOXJ1 were changed from to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Marked gene: FOXJ1 as ready
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.868 FOXJ1 Zornitza Stark Publications for gene: FOXJ1 were set to
Mendeliome v0.867 FOXJ1 Zornitza Stark Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence)
Ciliary Dyskinesia v0.14 FOXJ1 Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence).
Mendeliome v0.866 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ciliary Dyskinesia v0.13 FOXJ1 Zornitza Stark gene: FOXJ1 was added
gene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Review for gene: FOXJ1 was set to GREEN
Added comment: Six unrelated individuals with de novo variants in this gene.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1633 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1632 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Microcephaly v0.74 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.74 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Microcephaly v0.74 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Microcephaly v0.73 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.866 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.866 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Mendeliome v0.866 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Mendeliome v0.865 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.12 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.11 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability
Review for gene: TUBGCP2 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Literature
Mendeliome v0.864 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Mendeliome v0.864 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Mendeliome v0.864 RRAS2 Zornitza Stark Phenotypes for gene: RRAS2 were changed from to Noonan syndrome 12, OMIM #618624
Mendeliome v0.863 RRAS2 Zornitza Stark Publications for gene: RRAS2 were set to
Mendeliome v0.862 RRAS2 Zornitza Stark Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.861 RRAS2 Zornitza Stark reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular Malformations_Germline v0.39 SOS1 Bryony Thompson gene: SOS1 was added
gene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 29907801
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Review for gene: SOS1 was set to RED
Added comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Marked gene: TP73 as ready
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Classified gene: TP73 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1631 TP73 Zornitza Stark Gene: tp73 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1630 TP73 Zornitza Stark gene: TP73 was added
gene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284
Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Classified gene: PTPN14 as Green List (high evidence)
Vascular Malformations_Germline v0.38 PTPN14 Bryony Thompson Gene: ptpn14 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.37 PTPN14 Bryony Thompson gene: PTPN14 was added
gene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611
Review for gene: PTPN14 was set to GREEN
Added comment: Lymphedema is a prominent feature of the condition.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Classified gene: SMG8 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1629 SMG8 Zornitza Stark Gene: smg8 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1628 SMG8 Zornitza Stark gene: SMG8 was added
gene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Marked gene: IQSEC3 as ready
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Classified gene: PTPN11 as Red List (low evidence)
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital
Vascular Malformations_Germline v0.36 PTPN11 Bryony Thompson Gene: ptpn11 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Classified gene: IQSEC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1627 IQSEC3 Zornitza Stark Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.35 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma
Review for gene: PTPN11 was set to GREEN
Added comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1626 IQSEC3 Zornitza Stark gene: IQSEC3 was added
gene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families, no functional data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Marked gene: ICE1 as ready
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Classified gene: ICE1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1625 ICE1 Zornitza Stark Gene: ice1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1624 ICE1 Zornitza Stark gene: ICE1 was added
gene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes.
Sources: Literature
Vascular Malformations_Germline v0.34 PIK3R2 Bryony Thompson gene: PIK3R2 was added
gene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 22729224; 28502725
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Review for gene: PIK3R2 was set to RED
Added comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided.
Sources: Expert list
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson Tag somatic tag was added to gene: PIK3R1.
Vascular Malformations_Germline v0.33 PIK3R1 Bryony Thompson gene: PIK3R1 was added
gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to Other
Publications for gene: PIK3R1 were set to 29174369
Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation
Review for gene: PIK3R1 was set to RED
Added comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature.
Sources: Expert list
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Classified gene: PIK3CA as Green List (high evidence)
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.
Vascular Malformations_Germline v0.32 PIK3CA Bryony Thompson Gene: pik3ca has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson Tag somatic tag was added to gene: PIK3CA.
Vascular Malformations_Germline v0.31 PIK3CA Bryony Thompson reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Classified gene: NRAS as Red List (low evidence)
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.31 NRAS Bryony Thompson Gene: nras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson Tag somatic tag was added to gene: NRAS.
Vascular Malformations_Germline v0.30 NRAS Bryony Thompson gene: NRAS was added
gene: NRAS was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: NRAS was set to Other
Publications for gene: NRAS were set to 30542204; 29461977
Phenotypes for gene: NRAS were set to Kaposiform lymphangiomatosis; Sporadic vascular malformation
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: NRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Noonan syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Classified gene: MTOR as Red List (low evidence)
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Added comment: Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations, thus this gene is not suitable for a germline testing panel.
Vascular Malformations_Germline v0.29 MTOR Bryony Thompson Gene: mtor has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease
Vascular Malformations_Germline v0.28 MTOR Bryony Thompson Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Vascular Malformations_Germline v0.27 MTOR Bryony Thompson gene: MTOR was added
gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MTOR.
Mode of inheritance for gene: MTOR was set to Other
Publications for gene: MTOR were set to 28892148; 29174369
Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Review for gene: MTOR was set to AMBER
Added comment: Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself.
Sources: Expert list
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Classified gene: MAP3K3 as Red List (low evidence)
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Added comment: Comment on list classification: Somatic mutations are the cause of vascular malformations, thus this gene is not appropriate for a germline testing panel.
Vascular Malformations_Germline v0.26 MAP3K3 Bryony Thompson Gene: map3k3 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.25 MAP3K3 Bryony Thompson gene: MAP3K3 was added
gene: MAP3K3 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP3K3.
Mode of inheritance for gene: MAP3K3 was set to Other
Publications for gene: MAP3K3 were set to 10700190; 25728774
Phenotypes for gene: MAP3K3 were set to Verrucous venous malformation
Review for gene: MAP3K3 was set to GREEN
Added comment: Somatic variants have been identified in 6 (out of 10) verrucous venous malformation specimens (and not in the germline). The authors suggest that the somatic mutations have a neomorphic or hypermorphic function.
Sources: Expert list
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Classified gene: MAP2K1 as Red List (low evidence)
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations, thus it is not appropriate to include this gene on a germline testing panel.
Vascular Malformations_Germline v0.24 MAP2K1 Bryony Thompson Gene: map2k1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.23 MAP2K1 Bryony Thompson gene: MAP2K1 was added
gene: MAP2K1 was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: MAP2K1.
Mode of inheritance for gene: MAP2K1 was set to Other
Publications for gene: MAP2K1 were set to 31486960; 29461977; 28190454
Phenotypes for gene: MAP2K1 were set to Intramuscular fast-flow vascular anomaly; Arteriovenous malformation
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MAP2K1 was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Classified gene: KRAS as Red List (low evidence)
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations are the cause of vascular malformations in this gene, thus it is not suitable to include on a germline testing panel.
Vascular Malformations_Germline v0.22 KRAS Bryony Thompson Gene: kras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.21 KRAS Bryony Thompson gene: KRAS was added
gene: KRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: KRAS.
Mode of inheritance for gene: KRAS was set to Other
Publications for gene: KRAS were set to 30677207; 30544177; 31160609
Phenotypes for gene: KRAS were set to Arteriovenous malformation of the brain, somatic 108010; Vascular malformation
Mode of pathogenicity for gene: KRAS was set to Other
Review for gene: KRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause sporadic vascular malformations, particularly CNS AVMs. Germline mutations cause RASopathies.
Sources: Expert list
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Classified gene: KDR as Amber List (moderate evidence)
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Added comment: Comment on list classification: There is currently insufficient reports in patients to determine if this gene causes an inherited vascular malformation (haemangioma).
Vascular Malformations_Germline v0.20 KDR Bryony Thompson Gene: kdr has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.19 KDR Bryony Thompson Tag somatic tag was added to gene: KDR.
Vascular Malformations_Germline v0.19 KDR Bryony Thompson gene: KDR was added
gene: KDR was added to Inherited Vascular Malformations. Sources: Expert list
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDR were set to 30475086; 7596435; 24704994; 18931684
Phenotypes for gene: KDR were set to {Hemangioma, capillary infantile, susceptibility to} 602089; Hemangioma, capillary infantile, somatic 602089; Cystic hygroma
Review for gene: KDR was set to AMBER
Added comment: The variant identified in PMID: 18931684 (Cys482Arg) in the germline of two unrelated hemangioma cases is too common in gnomAD to be associated with rare dominant disease, but may be a susceptibility loci. Another germline missense variant has been identified in a case of cystic hygroma (PMID: 30475086). Flk1-/- (Kdr-/-) mice are embryonic lethal and demonstrate an early defect in the development of hematopoietic and endothelial cells. Organized blood vessels could not be observed.
Sources: Expert list
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Classified gene: HRAS as Red List (low evidence)
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations cause vascular malformations, which is not really appropriate for a germline testing panel
Vascular Malformations_Germline v0.18 HRAS Bryony Thompson Gene: hras has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.17 HRAS Bryony Thompson gene: HRAS was added
gene: HRAS was added to Inherited Vascular Malformations. Sources: Expert list
somatic tags were added to gene: HRAS.
Mode of inheritance for gene: HRAS was set to Other
Publications for gene: HRAS were set to 31637524; 31160609; 30208313
Phenotypes for gene: HRAS were set to Extracranial arteriovenous malformations; Vascular malformation/overgrowth syndromes
Mode of pathogenicity for gene: HRAS was set to Other
Review for gene: HRAS was set to GREEN
Added comment: Somatic activating mutations in this gene cause vascular malformations. Germline variants cause the RASopathy, Costello syndrome.
Sources: Expert list
Vascular Malformations_Germline v0.16 Bryony Thompson Panel name changed from Vascular Malformations_RMH to Inherited Vascular Malformations
Panel types changed to Royal Melbourne Hospital
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Classified gene: GNA14 as Red List (low evidence)
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations have only been reported to cause vascular malformations. This gene is not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.15 GNA14 Bryony Thompson Gene: gna14 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.14 GNA14 Bryony Thompson gene: GNA14 was added
gene: GNA14 was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNA14.
Mode of inheritance for gene: GNA14 was set to Other
Publications for gene: GNA14 were set to 31423605; 31707589; 27476652
Phenotypes for gene: GNA14 were set to Tufted angioma; Anastomosing hemangioma; vascular tumours
Mode of pathogenicity for gene: GNA14 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNA14 was set to GREEN
Added comment: Somatic activating mutations cause sporadic and congenital vascular tumours.
Sources: Expert list
Vascular Malformations_Germline v0.13 CDKN1C Bryony Thompson gene: CDKN1C was added
gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Review for gene: CDKN1C was set to RED
Added comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert list
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Classified gene: BRAF as Red List (low evidence)
Vascular Malformations_Germline v0.12 BRAF Bryony Thompson Gene: braf has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Classified gene: GNA11 as Red List (low evidence)
Vascular Malformations_Germline v0.11 GNA11 Bryony Thompson Gene: gna11 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Classified gene: GNAQ as Red List (low evidence)
Vascular Malformations_Germline v0.10 GNAQ Bryony Thompson Gene: gnaq has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Classified gene: AKT1 as Red List (low evidence)
Vascular Malformations_Germline v0.9 AKT1 Bryony Thompson Gene: akt1 has been classified as Red List (Low Evidence).
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Classified gene: BRAF as Amber List (moderate evidence)
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Added comment: Comment on list classification: Somatic activating mutations only are associated with vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.8 BRAF Bryony Thompson Gene: braf has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.7 BRAF Bryony Thompson gene: BRAF was added
gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: BRAF.
Mode of inheritance for gene: BRAF was set to Other
Publications for gene: BRAF were set to 29316280; 29461977; 30544177
Phenotypes for gene: BRAF were set to Sporadic vascular malformations
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: BRAF was set to GREEN
Added comment: Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations.
Sources: Expert list
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Deleted their comment
Vascular Malformations_Germline v0.6 AKT1 Bryony Thompson Tag somatic tag was added to gene: AKT1.
Vascular Malformations_Germline v0.6 GNA11 Bryony Thompson Tag somatic tag was added to gene: GNA11.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Classified gene: GNAQ as Amber List (moderate evidence)
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Added comment: Comment on list classification: Somatic mutation only causes vascular malformations. Not really suitable for a germline testing panel.
Vascular Malformations_Germline v0.6 GNAQ Bryony Thompson Gene: gnaq has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.5 GNAQ Bryony Thompson gene: GNAQ was added
gene: GNAQ was added to Vascular Malformations_RMH. Sources: Expert list
somatic tags were added to gene: GNAQ.
Mode of inheritance for gene: GNAQ was set to Other
Publications for gene: GNAQ were set to 30920161
Phenotypes for gene: GNAQ were set to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Review for gene: GNAQ was set to GREEN
Added comment: The somatic activating mutation Arg183Gln cause conditions with vascular malformations.
Sources: Expert list
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Classified gene: AKT1 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Added comment: Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.
Vascular Malformations_Germline v0.4 AKT1 Bryony Thompson Gene: akt1 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Classified gene: GNA11 as Amber List (moderate evidence)
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Added comment: Comment on list classification: Probably not suitable for a germline testing panel
Vascular Malformations_Germline v0.3 GNA11 Bryony Thompson Gene: gna11 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.2 GNA11 Bryony Thompson reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161, 30677207; Phenotypes: Phacomatosis pigmentovascularis, somatic; Mode of inheritance: Other
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Classified gene: AKT1 as Green List (high evidence)
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Added comment: Comment on list classification: This gene is green for somatic variants.
Vascular Malformations_Germline v0.2 AKT1 Bryony Thompson Gene: akt1 has been classified as Green List (High Evidence).
Vascular Malformations_Germline v0.1 AKT1 Bryony Thompson gene: AKT1 was added
gene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: AKT1 was set to Other
Publications for gene: AKT1 were set to 23246288
Phenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109
Mode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: AKT1 was set to GREEN
Added comment: Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases.
Sources: Expert list
Rasopathy v0.4 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.4 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Marked gene: RRAS2 as ready
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.3 RRAS2 Alison Yeung Classified gene: RRAS2 as Green List (high evidence)
Rasopathy v0.3 RRAS2 Alison Yeung Gene: rras2 has been classified as Green List (High Evidence).
Rasopathy v0.2 RRAS2 Alison Yeung gene: RRAS2 was added
gene: RRAS2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to PMID: 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624
Review for gene: RRAS2 was set to GREEN
Added comment: Six unrelated families reported
Sources: Literature
Mendeliome v0.861 TP73 Alison Yeung Marked gene: TP73 as ready
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.861 TP73 Alison Yeung Classified gene: TP73 as Amber List (moderate evidence)
Mendeliome v0.861 TP73 Alison Yeung Gene: tp73 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.860 TP73 Alison Yeung gene: TP73 was added
gene: TP73 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to PMID: 31130284
Phenotypes for gene: TP73 were set to Cortical malformation; Lissencephaly
Review for gene: TP73 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.859 SMG8 Alison Yeung Marked gene: SMG8 as ready
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.859 SMG8 Alison Yeung Classified gene: SMG8 as Amber List (moderate evidence)
Mendeliome v0.859 SMG8 Alison Yeung Gene: smg8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.858 SMG8 Alison Yeung gene: SMG8 was added
gene: SMG8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to PMID: 31130284
Phenotypes for gene: SMG8 were set to Intellectual disability
Review for gene: SMG8 was set to AMBER
Added comment: Two unrelated families reported. No functional data
Sources: Literature
Mendeliome v0.857 IQSEC3 Alison Yeung Marked gene: IQSEC3 as ready
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.857 IQSEC3 Alison Yeung Classified gene: IQSEC3 as Amber List (moderate evidence)
Mendeliome v0.857 IQSEC3 Alison Yeung Gene: iqsec3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.856 IQSEC3 Alison Yeung gene: IQSEC3 was added
gene: IQSEC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC3 were set to PMID: 31130284
Phenotypes for gene: IQSEC3 were set to Intellectual disability
Review for gene: IQSEC3 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.855 ICE1 Alison Yeung Marked gene: ICE1 as ready
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.855 ICE1 Alison Yeung Classified gene: ICE1 as Amber List (moderate evidence)
Mendeliome v0.855 ICE1 Alison Yeung Gene: ice1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.854 ICE1 Alison Yeung gene: ICE1 was added
gene: ICE1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICE1 were set to PMID: 31130284
Phenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy
Review for gene: ICE1 was set to AMBER
Added comment: Two unrelated families reported, no functional data
Sources: Literature
Mendeliome v0.853 EIF2A Alison Yeung Marked gene: EIF2A as ready
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.853 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Mendeliome v0.853 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.852 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: reported in two unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1623 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Marked gene: EIF2A as ready
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Classified gene: EIF2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1622 EIF2A Alison Yeung Gene: eif2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1621 EIF2A Alison Yeung gene: EIF2A was added
gene: EIF2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EIF2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2A were set to PMID: 31130284
Phenotypes for gene: EIF2A were set to Intellectual disability, epilepsy
Review for gene: EIF2A was set to AMBER
Added comment: two unrelated families reported, no functional data
Sources: Literature
Leukodystrophy - adult onset v0.19 UNC13D Bryony Thompson gene: UNC13D was added
gene: UNC13D was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898
Review for gene: UNC13D was set to RED
Added comment: There is no clear evidence that leukodystrophy is a prominent feature of the condition caused by this gene.
Sources: Expert list
Leukodystrophy - paediatric v0.49 UFM1 Bryony Thompson Marked gene: UFM1 as ready
Leukodystrophy - paediatric v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.49 UFM1 Bryony Thompson Classified gene: UFM1 as Green List (high evidence)
Leukodystrophy - paediatric v0.49 UFM1 Bryony Thompson Gene: ufm1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.48 UFM1 Bryony Thompson gene: UFM1 was added
gene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899
Added comment: Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy.
Sources: Expert list
Leukodystrophy - adult onset v0.18 TWNK Bryony Thompson Classified gene: TWNK as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.18 TWNK Bryony Thompson Gene: twnk has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.17 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 31455269; 19353676
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286
Review for gene: TWNK was set to AMBER
Added comment: Two reports of white matter changes one in a woman diagnosed with PEO and an infant diagnosed with mitochondrial depletion syndrome.
Sources: Expert list
Leukodystrophy - paediatric v0.47 TMEM63A Bryony Thompson Classified gene: TMEM63A as Green List (high evidence)
Leukodystrophy - paediatric v0.47 TMEM63A Bryony Thompson Gene: tmem63a has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.46 TMEM63A Bryony Thompson gene: TMEM63A was added
gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688
Review for gene: TMEM63A was set to GREEN
Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants.
Sources: Expert list
Leukodystrophy - adult onset v0.16 STXBP2 Bryony Thompson gene: STXBP2 was added
gene: STXBP2 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
Review for gene: STXBP2 was set to RED
Added comment: There is no clear evidence that leukodystrophy is a prominent feature of the condition associated with this gene.
Sources: Expert list
Leukodystrophy - paediatric v0.45 STX11 Bryony Thompson gene: STX11 was added
gene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552
Review for gene: STX11 was set to RED
Added comment: It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes.
Sources: Expert list
Leukodystrophy - adult onset v0.15 SPG7 Bryony Thompson Classified gene: SPG7 as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.15 SPG7 Bryony Thompson Gene: spg7 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.14 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 20108356; 17646629
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259
Review for gene: SPG7 was set to AMBER
Added comment: White matter abnormalities reported in two cases. It is unclear whether this is a prominent feature of the condition.
Sources: Expert list
Leukodystrophy - adult onset v0.13 SPG21 Bryony Thompson Classified gene: SPG21 as Green List (high evidence)
Leukodystrophy - adult onset v0.13 SPG21 Bryony Thompson Gene: spg21 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.12 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to 14564668
Phenotypes for gene: SPG21 were set to Mast syndrome 248900
Review for gene: SPG21 was set to GREEN
Added comment: Three patients reported with white matter abnormalities, diagnosed with Mast syndrome.
Sources: Expert list
Leukodystrophy - adult onset v0.11 SPAST Bryony Thompson Classified gene: SPAST as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.11 SPAST Bryony Thompson Gene: spast has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.10 SPAST Bryony Thompson reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: None; Publications: 23968121; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Leukodystrophy - adult onset v0.10 SPAST Bryony Thompson Deleted their review
Leukodystrophy - adult onset v0.10 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 23968121
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601
Review for gene: SPAST was set to RED
Added comment: It is not clear that leukodystrophy is a prominent feature of the condition.
Sources: Expert list
Leukodystrophy - paediatric v0.44 SPART Bryony Thompson Classified gene: SPART as Green List (high evidence)
Leukodystrophy - paediatric v0.44 SPART Bryony Thompson Gene: spart has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.43 SPART Bryony Thompson gene: SPART was added
gene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 28875386; 15372254
Phenotypes for gene: SPART were set to Troyer syndrome 275900
Review for gene: SPART was set to GREEN
Added comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described.
Sources: Expert list
Leukodystrophy - paediatric v0.42 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 29226520
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Review for gene: SLC25A1 was set to RED
Added comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood.
Sources: Expert list
Leukodystrophy - paediatric v0.41 SLC13A5 Bryony Thompson Classified gene: SLC13A5 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.41 SLC13A5 Bryony Thompson Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.40 SLC13A5 Bryony Thompson gene: SLC13A5 was added
gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27913086
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months.
Sources: Expert list
Leukodystrophy - paediatric v0.39 RAB11B Bryony Thompson Classified gene: RAB11B as Green List (high evidence)
Leukodystrophy - paediatric v0.39 RAB11B Bryony Thompson Gene: rab11b has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.38 RAB11B Bryony Thompson gene: RAB11B was added
gene: RAB11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11B were set to 29106825
Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807
Review for gene: RAB11B was set to GREEN
Added comment: 5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities.
Sources: Expert list
Leukodystrophy - paediatric v0.37 PSAT1 Bryony Thompson gene: PSAT1 was added
gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992
Review for gene: PSAT1 was set to RED
Added comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency.
Sources: Expert list
Leukodystrophy - paediatric v0.36 PRF1 Bryony Thompson gene: PRF1 was added
gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 23443029; 21959744
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553
Review for gene: PRF1 was set to RED
Added comment: Leukodystrophy does not appear to be a prominent feature of the condition
Sources: Expert list
Leukodystrophy - paediatric v0.35 PPT1 Bryony Thompson Classified gene: PPT1 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.35 PPT1 Bryony Thompson Gene: ppt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.34 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPT1 were set to 5706364; 8576553
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Review for gene: PPT1 was set to AMBER
Added comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene.
Sources: Expert list
Leukodystrophy - paediatric v0.33 POLR1A Bryony Thompson gene: POLR1A was added
gene: POLR1A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1A were set to 28051070
Phenotypes for gene: POLR1A were set to ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy
Review for gene: POLR1A was set to RED
Added comment: 2 brothers in a single consanguineous family with neurological disease including leukodystrophy with a homozygous variant. Reduced protein expression in patient cells.
Sources: Expert list
Leukodystrophy - paediatric v0.32 PLEKHG2 Bryony Thompson Classified gene: PLEKHG2 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.32 PLEKHG2 Bryony Thompson Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.31 PLEKHG2 Bryony Thompson gene: PLEKHG2 was added
gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLEKHG2 were set to 26573021
Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763
Review for gene: PLEKHG2 was set to AMBER
Added comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted.
Sources: Expert list
Leukodystrophy - paediatric v0.30 PHGDH Bryony Thompson gene: PHGDH was added
gene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to RED
Added comment: No clear link to leukodystophy for this gene.
Sources: Expert list
Leukodystrophy - paediatric v0.29 OCRL Bryony Thompson reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.29 OCLN Bryony Thompson changed review comment from: Link to leukodystrophy not clear.
Sources: Expert list; to: No clear link to leukodystrophy.
Sources: Expert list
Leukodystrophy - paediatric v0.29 OCLN Bryony Thompson gene: OCLN was added
gene: OCLN was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Pseudo-TORCH syndrome 1 251290
Review for gene: OCLN was set to RED
Added comment: Link to leukodystrophy not clear.
Sources: Expert list
Leukodystrophy - adult onset v0.9 NPC2 Bryony Thompson Classified gene: NPC2 as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.9 NPC2 Bryony Thompson Gene: npc2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.8 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 25396745
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625
Review for gene: NPC2 was set to AMBER
Added comment: White matter lesions associated with NPC1, but haven't been reported in association with NPC2 in humans. A cat with Niemann-pick and white matter degeneration identified during autopsy and a biallelic NPC2 variant.
Sources: Expert list
Leukodystrophy - adult onset v0.7 NPC1 Bryony Thompson Classified gene: NPC1 as Green List (high evidence)
Leukodystrophy - adult onset v0.7 NPC1 Bryony Thompson Gene: npc1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.6 NPC1 Bryony Thompson gene: NPC1 was added
gene: NPC1 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 26910362; 29406968
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D 257220
Review for gene: NPC1 was set to GREEN
Added comment: White matter lesions identified in MRI of 5/11 of Niemann-Pick patients (including adult-onset) and in an NPC mouse model.
Sources: Expert list
Leukodystrophy - paediatric v0.28 NDUFA2 Bryony Thompson Classified gene: NDUFA2 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.28 NDUFA2 Bryony Thompson Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.27 NDUFA2 Bryony Thompson gene: NDUFA2 was added
gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy
Review for gene: NDUFA2 was set to AMBER
Added comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency.
Sources: Expert list
Leukodystrophy - paediatric v0.26 MRPS16 Bryony Thompson gene: MRPS16 was added
gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Review for gene: MRPS16 was set to RED
Added comment: No clear link to leukodystrophy reported.
Sources: Expert list
Leukodystrophy - paediatric v0.25 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050
Review for gene: MPLKIP was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease.
Sources: Expert list
Leukodystrophy - paediatric v0.24 HMBS Bryony Thompson Classified gene: HMBS as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.24 HMBS Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.23 HMBS Bryony Thompson reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.23 HMBS Bryony Thompson Deleted their review
Leukodystrophy - paediatric v0.23 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMBS were set to 27558376
Phenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy
Review for gene: HMBS was set to RED
Added comment: Compound heterozygous variants segregate in three affected individuals in a single family.
Sources: Expert list
Leukodystrophy - paediatric v0.22 GTF2H5 Bryony Thompson gene: GTF2H5 was added
gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395
Review for gene: GTF2H5 was set to RED
Added comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition.
Sources: Expert list
Leukodystrophy - paediatric v0.21 GFPT1 Bryony Thompson Classified gene: GFPT1 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.21 GFPT1 Bryony Thompson Gene: gfpt1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.20 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFPT1 were set to 30635494
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy
Review for gene: GFPT1 was set to AMBER
Added comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green.
Sources: Expert list
Leukodystrophy - paediatric v0.19 FIG4 Bryony Thompson Classified gene: FIG4 as Green List (high evidence)
Leukodystrophy - paediatric v0.19 FIG4 Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.18 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 30740813; 29688489
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy
Review for gene: FIG4 was set to GREEN
Added comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype.
Sources: Expert list
Leukodystrophy - paediatric v0.17 ERCC3 Bryony Thompson gene: ERCC3 was added
gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390
Review for gene: ERCC3 was set to RED
Added comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3.
Sources: Expert list
Leukodystrophy - paediatric v0.16 ERCC2 Bryony Thompson Classified gene: ERCC2 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.16 ERCC2 Bryony Thompson Gene: ercc2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.15 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 29451896
Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675
Review for gene: ERCC2 was set to AMBER
Added comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case.
Sources: Expert list
Leukodystrophy - paediatric v0.14 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Leukodystrophy - paediatric v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.14 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Leukodystrophy - paediatric v0.14 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.13 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404
Review for gene: DEGS1 was set to GREEN
Added comment: Hypomyelinating leukodystorphy is the prominent feature of this condition.
Sources: Expert list
Leukodystrophy - adult onset v0.5 CYP7B1 Bryony Thompson Classified gene: CYP7B1 as Green List (high evidence)
Leukodystrophy - adult onset v0.5 CYP7B1 Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence).
Leukodystrophy - adult onset v0.4 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive 270800
Review for gene: CYP7B1 was set to GREEN
Added comment: White matter lesions have been reported as a feature of the condition in >3 cases.
Sources: Expert list
Leukodystrophy - paediatric v0.12 CYP2U1 Bryony Thompson Classified gene: CYP2U1 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.12 CYP2U1 Bryony Thompson Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.11 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 27292318
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030
Review for gene: CYP2U1 was set to AMBER
Added comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature.
Sources: Expert list
Leukodystrophy - paediatric v0.10 COQ9 Bryony Thompson gene: COQ9 was added
gene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654
Review for gene: COQ9 was set to RED
Added comment: White matter changes are not reported as a prominent feature of the condition.
Sources: Expert list
Leukodystrophy - paediatric v0.9 COQ8A Bryony Thompson gene: COQ8A was added
gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016
Review for gene: COQ8A was set to RED
Added comment: White matter changes don't appear to be a prominent feature of the condition.
Sources: Expert list
Leukodystrophy - paediatric v0.8 BCAP31 Bryony Thompson Classified gene: BCAP31 as Green List (high evidence)
Leukodystrophy - paediatric v0.8 BCAP31 Bryony Thompson Gene: bcap31 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.7 BCAP31 Bryony Thompson gene: BCAP31 was added
gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475
Review for gene: BCAP31 was set to GREEN
Added comment: White matter changes are a feature of the condition.
Sources: Expert list
Leukodystrophy - paediatric v0.6 ATPAF2 Bryony Thompson gene: ATPAF2 was added
gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATPAF2 were set to 14757859
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Review for gene: ATPAF2 was set to RED
Added comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted.
Sources: Expert list
Leukodystrophy - adult onset v0.3 ATP7B Bryony Thompson Classified gene: ATP7B as Amber List (moderate evidence)
Leukodystrophy - adult onset v0.3 ATP7B Bryony Thompson Gene: atp7b has been classified as Amber List (Moderate Evidence).
Leukodystrophy - adult onset v0.2 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Leukodystrophy - adult onset. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 16966556; 12020274
Phenotypes for gene: ATP7B were set to Wilson disease, 277900
Review for gene: ATP7B was set to AMBER
Added comment: White matter changes have been reported in Wilson's disease, but it doesn't appear to be a common feature of the condition.
Sources: Expert list
Leukodystrophy - paediatric v0.5 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Leukodystrophy - paediatric v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.5 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Leukodystrophy - paediatric v0.5 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.4 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7A were set to 26937406; 21924848; 29789304
Phenotypes for gene: ATP7A were set to Menkes disease, 309400
Review for gene: ATP7A was set to GREEN
Added comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination.
Sources: Expert list
Leukodystrophy - paediatric v0.3 AIMP2 Bryony Thompson gene: AIMP2 was added
gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature
Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP2 were set to 29215095
Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006
Review for gene: AIMP2 was set to RED
Added comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted.
Sources: Literature
Ataxia - paediatric v0.47 ACBD5 Bryony Thompson changed review comment from: 2 unrelated families and no functional evidence
Sources: Expert list; to: 2 unrelated families and no functional evidence linking the gene to an ataxia phenotype
Sources: Expert list
Leukodystrophy - paediatric v0.2 ACBD5 Bryony Thompson Classified gene: ACBD5 as Green List (high evidence)
Leukodystrophy - paediatric v0.2 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Green List (High Evidence).
Leukodystrophy - paediatric v0.1 ACBD5 Bryony Thompson gene: ACBD5 was added
gene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409
Phenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy
Review for gene: ACBD5 was set to GREEN
Added comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies.
Sources: Expert list
Mendeliome v0.850 Sebastian Lunke removed gene:TRIM28 from the panel
Mendeliome v0.849 Sebastian Lunke removed gene:PRKN from the panel
Mendeliome v0.848 Sebastian Lunke removed gene:DSC2 from the panel
Mendeliome v0.846 Sebastian Lunke removed gene:CHEK2 from the panel
Renal Cystic Disease_SuperPanel v0.115 Zornitza Stark Panel status changed from public to promoted
Immunological disorders_SuperPanel v0.125 Zornitza Stark Panel status changed from public to promoted
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v0.171 Zornitza Stark Panel status changed from public to promoted
Cardiomyopathy_Adult_SuperPanel v0.20 Zornitza Stark Panel status changed from public to promoted
Arrhythmia_SuperPanel v0.17 Zornitza Stark Panel status changed from public to promoted
Mendeliome v0.845 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.845 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Mendeliome v0.845 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Mendeliome v0.844 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Three unrelated individuals reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Marked gene: KCNN3 as ready
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Classified gene: KCNN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1620 KCNN3 Alison Yeung Gene: kcnn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1619 KCNN3 Alison Yeung gene: KCNN3 was added
gene: KCNN3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to PMID: 31155282
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3; OMIM# 618658
Review for gene: KCNN3 was set to GREEN
gene: KCNN3 was marked as current diagnostic
Added comment: Reported in three unrelated individuals
Sources: Literature
Autism v0.42 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.42 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Autism v0.42 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Mendeliome v0.843 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.843 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.842 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Mendeliome v0.841 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.840 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Mendeliome v0.840 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Autism v0.41 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.40 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Autism v0.39 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.38 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.839 ADCY8 Zornitza Stark Marked gene: ADCY8 as ready
Mendeliome v0.839 ADCY8 Zornitza Stark Added comment: Comment when marking as ready: Cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Intellectual disability; Autism; Epilepsy
Mendeliome v0.839 ADCY8 Zornitza Stark Classified gene: ADCY8 as Red List (low evidence)
Mendeliome v0.839 ADCY8 Zornitza Stark Gene: adcy8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1618 CTNND2 Zornitza Stark Mode of inheritance for gene: CTNND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Phenotypes for gene: CTNND2 were changed from to Intellectual disability; Autism; Epilepsy
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1617 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.8 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Classified gene: CTNND2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1616 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 CTNND2 Zornitza Stark reviewed gene: CTNND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25839933, 29127138, 25807484; Phenotypes: Intellectual disability, Autism, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.7 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Three unrelated individuals reported. Functional studies in mouse
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.6 Bryony Thompson Panel types changed to Royal Melbourne Hospital; Rare Disease
Mendeliome v0.838 CNOT1 Alison Yeung Marked gene: CNOT1 as ready
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.838 CNOT1 Alison Yeung Classified gene: CNOT1 as Green List (high evidence)
Mendeliome v0.838 CNOT1 Alison Yeung Gene: cnot1 has been classified as Green List (High Evidence).
Mendeliome v0.837 CNOT1 Alison Yeung gene: CNOT1 was added
gene: CNOT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to PMID: 31006513
Phenotypes for gene: CNOT1 were set to Holoprosencephaly 12, with or without pancreatic agenesis; OMIM# 618500
Review for gene: CNOT1 was set to GREEN
gene: CNOT1 was marked as current diagnostic
Added comment: Reported in 3 unrelated individuals
Sources: Literature
Leukodystrophy_Superpanel v0.0 Bryony Thompson Added Panel Leukodystrophy_Superpanel
Set child panels to: Leukodystrophy - adult onset; Leukodystrophy - paediatric_RMH
Mendeliome v0.836 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.836 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Mendeliome v0.836 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Mendeliome v0.835 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Marked gene: IQSEC1 as ready
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Classified gene: IQSEC1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1615 IQSEC1 Zornitza Stark Gene: iqsec1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1614 IQSEC1 Zornitza Stark gene: IQSEC1 was added
gene: IQSEC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687
Review for gene: IQSEC1 was set to GREEN
Added comment: Five individuals from two unrelated families reported, animal model data.
Sources: Literature
Leukodystrophy - adult onset v0.1 Bryony Thompson Panel name changed from Leukodystrophy - adult onset_RMH to Leukodystrophy - adult onset
Panel status changed from internal to public
Hereditary Haemorrhagic Telangiectasia v0.5 Bryony Thompson Panel name changed from Hereditary Haemorrhagic Telangiectasia_RMH to Hereditary Haemorrhagic Telangiectasia
Panel types changed to Royal Melbourne Hospital
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Monogenic Diabetes v0.3 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Marked gene: ACAN as ready
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.834 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Mendeliome v0.834 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Mendeliome v0.833 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 612813
Review for gene: ACAN was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.832 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.832 NKX2-2 Zornitza Stark Classified gene: NKX2-2 as Green List (high evidence)
Mendeliome v0.832 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Mendeliome v0.831 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943; 9584121
Phenotypes for gene: NKX2-2 were set to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Review for gene: NKX2-2 was set to GREEN
Added comment: Sources: Expert list
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Marked gene: NKX2-2 as ready
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Added comment: Comment when marking as ready: Mouse model also supports gene-disease association.
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Gene: nkx2-2 has been classified as Green List (High Evidence).
Monogenic Diabetes v0.3 NKX2-2 Zornitza Stark Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.2 NKX2-2 Zornitza Stark Phenotypes for gene: NKX2-2 were changed from to Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Monogenic Diabetes v0.1 NKX2-2 Zornitza Stark reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24411943; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.1 Zornitza Stark Panel name changed from Monogenic diabetes to Monogenic Diabetes
Panel types changed to Rare Disease; Victorian Clinical Genetics Services
Monogenic Diabetes v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 12913070; 15317753; 20034068; 16297189; 18435794
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Monogenic Diabetes v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive
Monogenic Diabetes v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB20 were set to 20644156; 25017102
Phenotypes for gene: ZBTB20 were set to Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications); Primrose syndrome, 259050
Monogenic Diabetes v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27185633; 27217304
Phenotypes for gene: WFS1 were set to Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41,116400; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy
Monogenic Diabetes v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 26297882; 24204302
Phenotypes for gene: TRMT10A were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic Diabetes v0.0 TFR2 Zornitza Stark gene: TFR2 was added
gene: TFR2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3 604250
Monogenic Diabetes v0.0 STAT3 Zornitza Stark gene: STAT3 was added
gene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25038750; 27167055
Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 23534974
Mode of pathogenicity for gene: STAT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 SLC40A1 Zornitza Stark gene: SLC40A1 was added
gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Monogenic Diabetes v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to PMID: 23456528; 22831748; 22660720
Phenotypes for gene: SLC2A2 were set to {Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome
Monogenic Diabetes v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 19336477
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome,602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes)
Monogenic Diabetes v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A2 were set to 26549656; 26839896
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Monogenic Diabetes v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY
Monogenic Diabetes v0.0 PTF1A Zornitza Stark gene: PTF1A was added
gene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
Monogenic Diabetes v0.0 PPP1R15B Zornitza Stark gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPP1R15B were set to Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817
Monogenic Diabetes v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic; FPLD3; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; [Obesity, resistance to]; Lipodystrophy, familial partial, type 3, 604367; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Carotid intimal medial thickness 1, 609338
Monogenic Diabetes v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males
Mode of pathogenicity for gene: POLD1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 PLIN1 Zornitza Stark gene: PLIN1 was added
gene: PLIN1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 11371650; 21345103; 25695774; 30020498
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877; partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 23810378
Phenotypes for gene: PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments
Monogenic Diabetes v0.0 PDX1 Zornitza Stark gene: PDX1 was added
gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4
Monogenic Diabetes v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24204001; 24848070
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic Diabetes v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia 106210; diabetes
Monogenic Diabetes v0.0 PAX4 Zornitza Stark gene: PAX4 was added
gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 NKX2-2 Zornitza Stark gene: NKX2-2 was added
gene: NKX2-2 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-2 were set to 24411943
Monogenic Diabetes v0.0 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG3 were set to 25650326; 26288179
Monogenic Diabetes v0.0 NEUROD1 Zornitza Stark gene: NEUROD1 was added
gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 20573748; 10545951; 26773576; 26669242
Phenotypes for gene: NEUROD1 were set to MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis
Monogenic Diabetes v0.0 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNX1 were set to 24411943; 23562494; 26534984
Monogenic Diabetes v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 25479458; 26206937; 26745254; 27057999
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity
Monogenic Diabetes v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24002959; 26775134
Phenotypes for gene: LMNA were set to Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes; FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660
Monogenic Diabetes v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: LIPC was set to Unknown
Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025
Monogenic Diabetes v0.0 KLF11 Zornitza Stark gene: KLF11 was added
gene: KLF11 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: KLF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLF11 were set to Maturity-onset diabetes of the young, type VII, 610508; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Hyperinsulinemic hypoglycemia, familial, 2, 601820; Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3; Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Transient Neonatal diabetes mellitus (Dominant)
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190
Monogenic Diabetes v0.0 INS Zornitza Stark gene: INS was added
gene: INS was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus
Monogenic Diabetes v0.0 IL2RA Zornitza Stark gene: IL2RA was added
gene: IL2RA was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green,NHS GMS
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RA were set to 17196245
Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; insulin-dependent diabetes mellitus at 8-weeks; IPEX-like syndrome; neonatal diabetes
Monogenic Diabetes v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 22991235; 24138066; 21835305
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome
Monogenic Diabetes v0.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853
Monogenic Diabetes v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700
Monogenic Diabetes v0.0 HNF1A Zornitza Stark gene: HNF1A was added
gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3
Monogenic Diabetes v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390
Monogenic Diabetes v0.0 HFE Zornitza Stark gene: HFE was added
gene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300
Monogenic Diabetes v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313
Monogenic Diabetes v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Monogenic Diabetes v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851
Monogenic Diabetes v0.0 GATA6 Zornitza Stark gene: GATA6 was added
gene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Monogenic Diabetes v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 27810688; 24696446; 20854389
Monogenic Diabetes v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic Diabetes v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: FOXC2 was set to Unknown
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Monogenic Diabetes v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 28055140
Phenotypes for gene: EIF2S3 were set to microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity
Monogenic Diabetes v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 19837917
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus
Monogenic Diabetes v0.0 DYRK1B Zornitza Stark gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYRK1B were set to Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); Abdominal obesity-metabolic syndrome 3, 615812
Monogenic Diabetes v0.0 DNAJC3 Zornitza Stark gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Monogenic Diabetes v0.0 DMXL2 Zornitza Stark gene: DMXL2 was added
gene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 22875945; 27657680; 25248098
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; OMIM:612186; ORPHA90636
Monogenic Diabetes v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCAF17 were set to 24464444; 19026396; 20507343
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080
Monogenic Diabetes v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia
Monogenic Diabetes v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency
Monogenic Diabetes v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 25056293; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928
Monogenic Diabetes v0.0 CIDEC Zornitza Stark gene: CIDEC was added
gene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIDEC were set to 20049731
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5
Monogenic Diabetes v0.0 CEL Zornitza Stark gene: CEL was added
gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812
Monogenic Diabetes v0.0 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: CAV1 was set to Unknown
Publications for gene: CAV1 were set to 18211975
Phenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Monogenic Diabetes v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 11479539
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy
Monogenic Diabetes v0.0 BLK Zornitza Stark gene: BLK was added
gene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young
Monogenic Diabetes v0.0 APPL1 Zornitza Stark gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes
Monogenic Diabetes v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Monogenic Diabetes v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17576055; 15166380; 17327441
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic Diabetes v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594
Monogenic Diabetes v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.
Phenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus
Monogenic Diabetes v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.0 Zornitza Stark Added panel Monogenic diabetes
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Marked gene: GAS2L2 as ready
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated individuals reported, downgrade to Amber.
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Ciliary Dyskinesia v0.12 GAS2L2 Zornitza Stark Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)
Ciliary Dyskinesia v0.11 GAS2L2 Zornitza Stark Publications for gene: GAS2L2 were set to
Ciliary Dyskinesia v0.10 GAS2L2 Zornitza Stark Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Ciliary Dyskinesia v0.9 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.16 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.15 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants.
Sources: Literature
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.14 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Polymicrogyria and Schizencephaly v0.13 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Polymicrogyria and Schizencephaly v0.12 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.13 Bryony Thompson Panel name changed from Ataxia - adult onset_RMH to Ataxia - adult onset
Panel types changed to Royal Melbourne Hospital
Ciliary Dyskinesia v0.8 GAS2L2 Ain Roesley reviewed gene: GAS2L2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30665704; Phenotypes: ?Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Marked gene: POLA1 as ready
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Classified gene: POLA1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1613 POLA1 Alison Yeung Gene: pola1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1612 POLA1 Alison Yeung gene: POLA1 was added
gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: POLA1 were set to PMID: 31006512
Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030
Review for gene: POLA1 was set to GREEN
gene: POLA1 was marked as current diagnostic
Added comment: Five unrelated families reported
Sources: Literature
Mendeliome v0.830 GPC4 Alison Yeung reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30982611; Phenotypes: Keipert syndrome OMIM# 301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Marked gene: GPC4 as ready
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1611 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Classified gene: GPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1610 GPC4 Alison Yeung Gene: gpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1609 GPC4 Alison Yeung gene: GPC4 was added
gene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPC4 were set to PMID: 30982611
Phenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026
Review for gene: GPC4 was set to GREEN
gene: GPC4 was marked as current diagnostic
Added comment: >3 unrelated individuals reported, functional studies in mice
Sources: Literature
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Marked gene: TBX3 as ready
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Classified gene: TBX3 as Green List (high evidence)
Congenital Heart Defect v0.17 TBX3 Zornitza Stark Gene: tbx3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.16 TBX3 Zornitza Stark gene: TBX3 was added
gene: TBX3 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM# 181450
Review for gene: TBX3 was set to GREEN
Added comment: VSD and WPW described.
Sources: Expert list
Mendeliome v0.830 KDM3B Alison Yeung Marked gene: KDM3B as ready
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Mendeliome v0.830 KDM3B Alison Yeung Classified gene: KDM3B as Green List (high evidence)
Mendeliome v0.830 KDM3B Alison Yeung Gene: kdm3b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Congenital Heart Defect v0.15 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Marked gene: LEMD2 as ready
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.829 LEMD2 Alison Yeung Classified gene: LEMD2 as Amber List (moderate evidence)
Mendeliome v0.829 LEMD2 Alison Yeung Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.14 TBX2 Zornitza Stark gene: TBX2 was added
gene: TBX2 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM# 618223
Review for gene: TBX2 was set to AMBER
Added comment: Two families reported; congenital heart disease is part of the phenotype.
Sources: Expert list
Mendeliome v0.828 LEMD2 Alison Yeung gene: LEMD2 was added
gene: LEMD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to PMID: 30905398
Phenotypes for gene: LEMD2 were set to progeroid disorder
Review for gene: LEMD2 was set to AMBER
Added comment: two reported unrelated individuals, limited functional evidence
Sources: Literature
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Marked gene: ROBO1 as ready
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Classified gene: ROBO1 as Green List (high evidence)
Congenital Heart Defect v0.13 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.12 ROBO1 Zornitza Stark gene: ROBO1 was added
gene: ROBO1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO1 were set to 28592524
Phenotypes for gene: ROBO1 were set to Tetralogy of Fallot; septal defects
Review for gene: ROBO1 was set to GREEN
Added comment: Three families reported and a mouse model. Note mono allelic and bi-allelic variants in this gene also linked with pituitary abnormalities.
Sources: Expert list
Mendeliome v0.827 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Mendeliome v0.827 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.827 PLD1 Zornitza Stark Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM# 212093
Mendeliome v0.826 PLD1 Zornitza Stark Publications for gene: PLD1 were set to
Mendeliome v0.825 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Mendeliome v0.825 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.825 PLD1 Zornitza Stark Mode of inheritance for gene: PLD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.824 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Mendeliome v0.824 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.823 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Mendeliome v0.823 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.65 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Mendeliome v0.822 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Ciliopathies v0.65 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.65 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Marked gene: PLD1 as ready
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Classified gene: PLD1 as Amber List (moderate evidence)
Congenital Heart Defect v0.11 PLD1 Zornitza Stark Gene: pld1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.64 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Ciliopathies v0.64 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.10 PLD1 Zornitza Stark gene: PLD1 was added
gene: PLD1 was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD1 were set to 27799408
Phenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, MIM# 212093
Review for gene: PLD1 was set to AMBER
Added comment: Four individuals from two families reported.
Sources: Expert list
Ciliopathies v0.63 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.9 NONO Zornitza Stark Marked gene: NONO as ready
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Marked gene: FAM149B1 as ready
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.9 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Congenital Heart Defect v0.9 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Classified gene: FAM149B1 as Green List (high evidence)
Joubert syndrome and other neurological ciliopathies v0.12 FAM149B1 Alison Yeung Gene: fam149b1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.8 NONO Zornitza Stark gene: NONO was added
gene: NONO was added to Congenital Heart Defect. Sources: Expert list
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Mental retardation, X-linked, syndromic 34, MIM# 300967
Review for gene: NONO was set to GREEN
Added comment: Structural heart defects and cardiomyopathy are features of this syndromic disorder.
Sources: Expert list
Joubert syndrome and other neurological ciliopathies v0.11 FAM149B1 Alison Yeung gene: FAM149B1 was added
gene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to PMID: 30905400
Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy
Review for gene: FAM149B1 was set to GREEN
gene: FAM149B1 was marked as current diagnostic
Added comment: Four unrelated families reported
Sources: Literature
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Marked gene: MYOCD as ready
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Classified gene: MYOCD as Green List (high evidence)
Congenital Heart Defect v0.7 MYOCD Zornitza Stark Gene: myocd has been classified as Green List (High Evidence).
Congenital Heart Defect v0.6 MYOCD Zornitza Stark gene: MYOCD was added
gene: MYOCD was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: Literature
Mendeliome v0.821 CARS Alison Yeung Marked gene: CARS as ready
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.821 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Mendeliome v0.821 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Mendeliome v0.820 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Added comment: Three reported unrelated families
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Marked gene: CARS as ready
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Classified gene: CARS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1608 CARS Alison Yeung Gene: cars has been classified as Green List (High Evidence).
Ataxia - paediatric v0.47 WDPCP Bryony Thompson Marked gene: WDPCP as ready
Ataxia - paediatric v0.47 WDPCP Bryony Thompson Gene: wdpcp has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.47 WDPCP Bryony Thompson gene: WDPCP was added
gene: WDPCP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to RED
Added comment: Ataxia not a reported phenotypic feature associated with this gene.`
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1607 CARS Alison Yeung gene: CARS was added
gene: CARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to PMID: 30824121
Phenotypes for gene: CARS were set to Intellectual disability; microcephaly; brittle hair and nails
Review for gene: CARS was set to GREEN
gene: CARS was marked as current diagnostic
Added comment: Three reported unrelated families
Sources: Literature
Ataxia - paediatric v0.46 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596
Review for gene: VRK1 was set to RED
Added comment: Ataxia can be a feature of the phenotype. Biallelic variants cause pontocerebellar hypoplasia and death before age 12, thus not a relevant gene for testing in an adult hospital.
Sources: Expert list
Ataxia - paediatric v0.45 TTI1 Bryony Thompson Marked gene: TTI1 as ready
Ataxia - paediatric v0.45 TTI1 Bryony Thompson Gene: tti1 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.45 TTI1 Bryony Thompson gene: TTI1 was added
gene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTI1 was set to Unknown
Review for gene: TTI1 was set to RED
Added comment: No reported association with ataxia.
Sources: Expert list
Ataxia - paediatric v0.44 TTC8 Bryony Thompson gene: TTC8 was added
gene: TTC8 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985
Review for gene: TTC8 was set to RED
Added comment: Ataxia is not a reported feature of this subtype of BBS
Sources: Expert list
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Mendeliome v0.819 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Mendeliome v0.818 MAPK8IP3 Zornitza Stark gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Ataxia - adult onset v0.12 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSEN54 were set to 24938831
Phenotypes for gene: TSEN54 were set to adult-onset cerebellar ataxia
Review for gene: TSEN54 was set to RED
Added comment: One family with adult-onset hereditary ataxia reported to segregate a heterozygous missense variant in this gene. Biallelic variants are associated with various forms of pontocerebellar hyploplasia where affected individuals do not live past childhood.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Classified gene: MAPK8IP3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1606 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.231 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Ataxia - paediatric v0.43 TSEN34 Bryony Thompson gene: TSEN34 was added
gene: TSEN34 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to ?Pontocerebellar hypoplasia type 2C, 612390
Review for gene: TSEN34 was set to RED
Added comment: No publications associated with ataxia, and ataxia is not a prominent feature of the condition.
Sources: Expert list
Ataxia - paediatric v0.42 TSEN2 Bryony Thompson gene: TSEN2 was added
gene: TSEN2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389
Review for gene: TSEN2 was set to RED
Added comment: Ataxia is not a prominent feature of this phenotype.
Sources: Expert list
Ataxia - paediatric v0.41 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988
Review for gene: TRIM32 was set to RED
Added comment: Ataxia is not a reported feature associated with this gene.
Sources: Expert list
Ataxia - paediatric v0.40 SVBP Bryony Thompson Classified gene: SVBP as Green List (high evidence)
Ataxia - paediatric v0.40 SVBP Bryony Thompson Gene: svbp has been classified as Green List (High Evidence).
Ataxia - paediatric v0.39 SVBP Bryony Thompson gene: SVBP was added
gene: SVBP was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SVBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SVBP were set to Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569
Review for gene: SVBP was set to GREEN
Added comment: Ataxia is a prominent feature of the phenotype for this condition.
Sources: Expert list
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Marked gene: SNAP25 as ready
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Classified gene: SNAP25 as Green List (high evidence)
Ataxia - paediatric v0.38 SNAP25 Bryony Thompson Gene: snap25 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.37 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29491473; 25381298; 17283335
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures
Review for gene: SNAP25 was set to GREEN
Added comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1605 MAPK8IP3 Alison Yeung gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431
Review for gene: MAPK8IP3 was set to GREEN
gene: MAPK8IP3 was marked as current diagnostic
Added comment: >3 reported individuals and functional evidence in Caenorhabditis elegans
Sources: Literature
Ataxia - adult onset v0.11 SEPSECS Bryony Thompson gene: SEPSECS was added
gene: SEPSECS was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment
Review for gene: SEPSECS was set to RED
Added comment: Ataxia not a prominent feature of the phenotype. A single report of a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, with a homozygous missense mutation.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Marked gene: NCAPG2 as ready
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1604 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Classified gene: NCAPG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1603 NCAPG2 Alison Yeung Gene: ncapg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1602 NCAPG2 Alison Yeung gene: NCAPG2 was added
gene: NCAPG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Ataxia - paediatric v0.36 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700
Review for gene: SAR1B was set to RED
Added comment: Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Sources: Expert list
Mendeliome v0.817 NCAPG2 Zornitza Stark Marked gene: NCAPG2 as ready
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.817 NCAPG2 Zornitza Stark Classified gene: NCAPG2 as Green List (high evidence)
Mendeliome v0.817 NCAPG2 Zornitza Stark Gene: ncapg2 has been classified as Green List (High Evidence).
Mendeliome v0.816 NCAPG2 Zornitza Stark gene: NCAPG2 was added
gene: NCAPG2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MIM# 618460
Review for gene: NCAPG2 was set to GREEN
Added comment: Two families and functional evidence (zebrafish model).
Sources: Literature
Ataxia - adult onset v0.10 RFC1 Bryony Thompson gene: RFC1 was added
gene: RFC1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575; CANVAS
Review for gene: RFC1 was set to RED
Added comment: CANVAS is associated with expansion of an intronic pentanucleotide repeat. Not detectable with WES testing.
Sources: Expert list
Mendeliome v0.815 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.815 ADAMTS9 Zornitza Stark Classified gene: ADAMTS9 as Green List (high evidence)
Mendeliome v0.815 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Mendeliome v0.814 ADAMTS9 Zornitza Stark gene: ADAMTS9 was added
gene: ADAMTS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Review for gene: ADAMTS9 was set to GREEN
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Marked gene: ADAMTS9 as ready
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Zornitza Stark Gene: adamts9 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Classified gene: ADAMTS9 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v0.98 ADAMTS9 Alison Yeung Gene: adamts9 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.35 RARS2 Bryony Thompson gene: RARS2 was added
gene: RARS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 31429931
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; early onset cerebellar ataxia
Review for gene: RARS2 was set to RED
Added comment: Ataxia is not a prominent feature of PCH. A homozygous putative pathogenic variant has been identified in one family with early onset cerebellar ataxia.
Sources: Expert list
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Renal Ciliopathies and Nephronophthisis v0.95 ADAMTS9 Alison Yeung gene: ADAMTS9 was added
gene: ADAMTS9 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to PMID:30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy
Penetrance for gene: ADAMTS9 were set to unknown
Review for gene: ADAMTS9 was set to GREEN
gene: ADAMTS9 was marked as current diagnostic
Added comment: Two families reported with functional evidence
Sources: Literature
Ataxia - paediatric v0.34 KCNQ2 Bryony Thompson Classified gene: KCNQ2 as Amber List (moderate evidence)
Ataxia - paediatric v0.34 KCNQ2 Bryony Thompson Gene: kcnq2 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.33 KCNQ2 Bryony Thompson reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22169383, 20962009, 10575255; Phenotypes: Early infantile epileptic encephalopathy 7, MIM#613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia - paediatric v0.33 Bryony Thompson removed gene:CAPN1 from the panel
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Marked gene: CAPN1 as ready
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Classified gene: CAPN1 as Green List (high evidence)
Ataxia - adult onset v0.8 CAPN1 Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.7 CAPN1 Bryony Thompson gene: CAPN1 was added
gene: CAPN1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76, autosomal recessive, 616907
Review for gene: CAPN1 was set to GREEN
Added comment: Homozygous or compound heterozygotes reported in 4 independent families with cerebellar ataxia and knockout mouse exhibit ataxia (PMID: 27320912). Multiple reports of homozygous cases with hereditary spastic paraparesis and spastic ataxia (PMID: 29678961, 30572172, 31023339, 31104286). Onset in young adulthood.
Sources: Expert list
Ataxia - paediatric v0.32 PNKD Bryony Thompson Classified gene: PNKD as Green List (high evidence)
Ataxia - paediatric v0.32 PNKD Bryony Thompson Gene: pnkd has been classified as Green List (High Evidence).
Ataxia - paediatric v0.31 PNKD Bryony Thompson gene: PNKD was added
gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800
Review for gene: PNKD was set to GREEN
Added comment: Condition has many overlapping features with episodic ataxia.
Sources: Expert list
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence)
Central Hypoventilation v0.6 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Central Hypoventilation v0.5 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Central Hypoventilation. Sources: Expert list
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Review for gene: SLC52A3 was set to GREEN
Added comment: Although this condition does not cause central hypoventilation, it can present with hypoventilation due to phrenic nerve palsy, and as it is treatable, it has been included in this panel.
Sources: Expert list
Proteinuria v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Haematuria_Alport v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v0.170 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Rare Disease
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.63 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from Branchiooculofacial syndrome, MIM# 113620 to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.62 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.61 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.60 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.60 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 KIF14 Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence).
Haematuria_Alport v0.27 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to 30844074; 30197990; 24067434; 21566112; 20800271; 27490940; 24334459
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Publications for gene: CFHR5 were set to
Haematuria_Alport v0.26 CFHR5 Zornitza Stark Mode of inheritance for gene: CFHR5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.25 CFHR5 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5.
Haematuria_Alport v0.25 CFHR5 Zornitza Stark edited their review of gene: CFHR5: Added comment: Review provided by Danny Gale (UCL):

4 independent mutations described in >30 families (most with one mutation that is endemic in people of Cypriot ancestry) causing haematuria and C3 glomerulopathy. Pathogenic mutations result in duplications of exons 2 and 3 of CFHR5, or a CFHR5-CFHR2 hybrid elongated gene to be produced. Other mutations (eg missense or truncating mutations) have NOT been robustly linked with disease and are probably not pathogenic: the disease is caused by a gain-of-function mechanism.; Changed rating: GREEN; Changed publications: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.813 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.813 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Mendeliome v0.813 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.812 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Marked gene: RIC1 as ready
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Classified gene: RIC1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1601 RIC1 Zornitza Stark Gene: ric1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1600 RIC1 Zornitza Stark gene: RIC1 was added
gene: RIC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 31932796
Phenotypes for gene: RIC1 were set to Cleft lip; cataract; tooth abnormality; intellectual disability; facial dysmorphism; ADHD
Review for gene: RIC1 was set to AMBER
Added comment: Zebrafish model and consanguineous families but homozygous-by-descent.
Sources: Literature
Arthrogryposis v0.19 TBCD Zornitza Stark Marked gene: TBCD as ready
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Arthrogryposis v0.19 TBCD Zornitza Stark Classified gene: TBCD as Green List (high evidence)
Arthrogryposis v0.19 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Microcephaly v0.72 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Microcephaly v0.72 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 BICC1 Zornitza Stark Publications for gene: BICC1 were set to 21922595
Mendeliome v0.811 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Mendeliome v0.811 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Mendeliome v0.811 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Mendeliome v0.810 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Mendeliome v0.809 BICC1 Zornitza Stark Classified gene: BICC1 as Red List (low evidence)
Mendeliome v0.809 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.62 BICC1 Zornitza Stark Mode of inheritance for gene: BICC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BMP7 Zornitza Stark Marked gene: BMP7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BMP7 Zornitza Stark Gene: bmp7 has been classified as Red List (Low Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.808 BNC2 Zornitza Stark Classified gene: BNC2 as Green List (high evidence)
Mendeliome v0.808 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Mendeliome v0.807 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to 31656805; 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
gene: BNC2 was marked as current diagnostic
Added comment: At least four unrelated families reported.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Phenotypes for gene: CHD1L were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Marked gene: CHD1L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Gene: chd1l has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Phenotypes for gene: CHD1L were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.60 CHD1L Zornitza Stark Publications for gene: CHD1L were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.60 CHD1L Zornitza Stark Mode of inheritance for gene: CHD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702 to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Gene: fgf8 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.58 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.56 GREB1L Zornitza Stark Publications for gene: GREB1L were set to 29100091
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.56 GREB1L Zornitza Stark Publications for gene: GREB1L were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.55 GREB1L Zornitza Stark Mode of inheritance for gene: GREB1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.54 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.53 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to CAKUT
Mendeliome v0.806 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Mendeliome v0.806 SIX2 Zornitza Stark Added comment: Comment when marking as ready: Single family reported.
Mendeliome v0.806 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Mendeliome v0.806 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Mendeliome v0.805 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Mendeliome v0.804 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.803 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Mendeliome v0.803 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Publications for gene: SIX2 were set to 24429398
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.51 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.51 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.50 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3; OMIM #613674 to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Marked gene: SOX17 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Gene: sox17 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.48 SOX17 Zornitza Stark Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Marked gene: TBC1D1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Publications for gene: TBC1D1 were set to
Hereditary Spastic Paraplegia - adult onset v0.4 PCYT2 Bryony Thompson Classified gene: PCYT2 as Green List (high evidence)
Hereditary Spastic Paraplegia - adult onset v0.4 PCYT2 Bryony Thompson Gene: pcyt2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - adult onset v0.3 PCYT2 Bryony Thompson gene: PCYT2 was added
gene: PCYT2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to GREEN
Added comment: Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age (included in adult onset panel, because of adolescent onset). Zebrafish model similar to previous HSP zebrafish models.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Marked gene: TNXB as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Gene: tnxb has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Phenotypes for gene: TNXB were changed from to Vesicoureteral reflux 8, MIM# 615963
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Publications for gene: TNXB were set to
Ataxia - paediatric v0.30 PCYT2 Bryony Thompson gene: PCYT2 was added
gene: PCYT2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422
Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: Ataxia is not a prominent feature of the condition.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TBC1D1 Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.44 TNXB Zornitza Stark Classified gene: TNXB as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.44 TNXB Zornitza Stark Gene: tnxb has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from SERKAL syndrome; OMIM #611812 to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Gene: wnt4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.42 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.41 WNT4 Zornitza Stark Mode of inheritance for gene: WNT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.802 SRGAP1 Zornitza Stark Marked gene: SRGAP1 as ready
Mendeliome v0.802 SRGAP1 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.802 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.802 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to
Mendeliome v0.801 SRGAP1 Zornitza Stark Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.800 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from to CAKUT
Mendeliome v0.799 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Mendeliome v0.799 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Marked gene: BMP4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to CAKUT
Ataxia - paediatric v0.29 MKKS Bryony Thompson Classified gene: MKKS as Amber List (moderate evidence)
Ataxia - paediatric v0.29 MKKS Bryony Thompson Gene: mkks has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.28 MKKS Bryony Thompson Marked gene: MKKS as ready
Ataxia - paediatric v0.28 MKKS Bryony Thompson Gene: mkks has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.58 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Ataxia - paediatric v0.28 MKKS Bryony Thompson gene: MKKS was added
gene: MKKS was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 15637713
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, 605231
Review for gene: MKKS was set to AMBER
Added comment: Ataxia is not reported as a prominent feature of the phenotype. However, ataxia has been reported in at least 1 case with BBS6. There were four BBS6 cases reported in the publication, and 18/21 BBS cases had ataxia, therefore it is unknown if all 4 cases had ataxia.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.58 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome; OMIM #270400 to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome; OMIM #270400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.56 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.55 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from LADD syndrome; OMIM #149730 to LADD syndrome; OMIM #149730
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from to LADD syndrome; OMIM #149730
Ataxia - adult onset v0.6 FDXR Bryony Thompson gene: FDXR was added
gene: FDXR was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, 617717
Review for gene: FDXR was set to RED
Added comment: Ataxia is not a reported feature of the phenotype for this condition.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400 to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.54 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to 15523639
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.53 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.52 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus; OMIM #153400
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.52 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from SALL4- related disorders to SALL4- related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Marked gene: SALL4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Gene: sall4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.51 SALL4 Zornitza Stark Phenotypes for gene: SALL4 were changed from to SALL4- related disorders
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson Marked gene: EXOSC3 as ready
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson Gene: exosc3 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson changed review comment from: Ataxia is not a prominent feature of the phenotype
Sources: Expert list; to: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.27 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.50 SALL4 Zornitza Stark Publications for gene: SALL4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.50 SALL4 Zornitza Stark Mode of inheritance for gene: SALL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.26 ELOVL1 Bryony Thompson gene: ELOVL1 was added
gene: ELOVL1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Review for gene: ELOVL1 was set to RED
Added comment: Ataxia is not a prominent feature of this condition.
Sources: Expert list
Ataxia - paediatric v0.25 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030
Added comment: Ataxia is not a prominent feature of the phenotype
Sources: Expert list
Ataxia - paediatric v0.24 COQ5 Bryony Thompson gene: COQ5 was added
gene: COQ5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Only one reported family, without functional assays linking the gene to ataxia.
Sources: Expert list
Ataxia - paediatric v0.23 CHMP1A Bryony Thompson gene: CHMP1A was added
gene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961
Review for gene: CHMP1A was set to RED
Added comment: Ataxia is not a prominent feature of the phenotype.
Sources: Expert list
Microcephaly v0.72 PCDH12 Tiong Tan Classified gene: PCDH12 as Green List (high evidence)
Microcephaly v0.72 PCDH12 Tiong Tan Gene: pcdh12 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT
Ataxia - paediatric v0.22 CCDC28B Bryony Thompson gene: CCDC28B was added
gene: CCDC28B was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900
Review for gene: CCDC28B was set to RED
Added comment: Modifier of BBS
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to 26026792
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Marked gene: SRGAP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from to CAKUT
Ataxia - adult onset v0.5 BEAN1 Bryony Thompson gene: BEAN1 was added
gene: BEAN1 was added to Ataxia - adult onset_RMH. Sources: Expert list
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31, 117210; autosomal dominant cerebellar ataxia type III
Review for gene: BEAN1 was set to RED
Added comment: Pentanucleotide repeat causes disease, which is not detectable with WES testing.
Sources: Expert list
Ataxia - paediatric v0.21 BBS9 Bryony Thompson gene: BBS9 was added
gene: BBS9 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986
Review for gene: BBS9 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype for this subtype of BBS.
Sources: Expert list
Ataxia - paediatric v0.20 BBS7 Bryony Thompson gene: BBS7 was added
gene: BBS7 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984
Review for gene: BBS7 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Ataxia - paediatric v0.19 BBS5 Bryony Thompson gene: BBS5 was added
gene: BBS5 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS5 were set to 15637713
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983
Review for gene: BBS5 was set to RED
Added comment: Ataxia is not a common feature reported with this subtype of BBS. One family with linkage to BBS5 (not sequenced) has been reported with ataxia.
Sources: Expert list
Ataxia - paediatric v0.18 BBS4 Bryony Thompson gene: BBS4 was added
gene: BBS4 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982
Review for gene: BBS4 was set to RED
Added comment: Ataxia is not a reported feature of the phenotype of this subtype of BBS.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.39 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to
Ataxia - paediatric v0.17 BBS2 Bryony Thompson gene: BBS2 was added
gene: BBS2 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS2 were set to 15637713
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981
Review for gene: BBS2 was set to RED
Added comment: Ataxia is not a reported common feature of this subtype of BBS. Ataxia may be present in one family with BBS2, but not stated outright in the publication (18/21 families had ataxia and there was only one BBS2 family).
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.38 WNT4 Chirag Patel Classified gene: WNT4 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.38 WNT4 Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 WNT4 Chirag Patel reviewed gene: WNT4: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 18179883; Phenotypes: ?SERKAL syndrome, OMIM #611812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 TNXB Zornitza Stark reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 23620400; Phenotypes: Vesicoureteral reflux 8, MIM# 615963; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 TBC1D1 Chirag Patel reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Classified gene: SOX17 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Gene: sox17 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Classified gene: SOX17 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Gene: sox17 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.16 BBS12 Bryony Thompson gene: BBS12 was added
gene: BBS12 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989
Added comment: Ataxia is not a reported feature of the phenotype.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SOX17 Chirag Patel reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20960469; Phenotypes: Vesicoureteral reflux 3, OMIM #613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.15 BBS10 Bryony Thompson gene: BBS10 was added
gene: BBS10 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987
Review for gene: BBS10 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Microcephaly v0.71 PCDH12 Tiong Tan gene: PCDH12 was added
gene: PCDH12 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683; 22822038
Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
Penetrance for gene: PCDH12 were set to Complete
Review for gene: PCDH12 was set to GREEN
Added comment: Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SRGAP1 Zornitza Stark reviewed gene: SRGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v0.14 ARL6 Bryony Thompson Marked gene: ARL6 as ready
Ataxia - paediatric v0.14 ARL6 Bryony Thompson Gene: arl6 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.14 ARL6 Bryony Thompson gene: ARL6 was added
gene: ARL6 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151
Review for gene: ARL6 was set to RED
Added comment: Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192 to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Marked gene: SIX1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.49 SIX1 Zornitza Stark Phenotypes for gene: SIX1 were changed from to Branchiootic syndrome 3, MIM#608389; Deafness, autosomal dominant 23, MIM# 605192
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.34 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.13 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809
Review for gene: AMPD2 was set to RED
Added comment: Ataxia is not a reported feature of this condition.
Sources: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.48 SALL4 Chirag Patel reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301547; Phenotypes: SALL4- related disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.48 SIX1 Zornitza Stark Mode of inheritance for gene: SIX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.33 SIX2 Zornitza Stark reviewed gene: SIX2: Rating: RED; Mode of pathogenicity: None; Publications: 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.33 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.47 SIX1 Zornitza Stark Classified gene: SIX1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.47 SIX1 Zornitza Stark Gene: six1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 SIX1 Zornitza Stark reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM#608389, Deafness, autosomal dominant 23, MIM# 605192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.4 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia - adult onset v0.4 MARS2 Bryony Thompson Gene: mars2 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.4 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - adult onset_RMH. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390
Review for gene: MARS2 was set to RED
Added comment: Only large duplications have been reported in ataxia. WES is not a suitable method of detection for SV/CNVs.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.32 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.31 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.30 NPHP3 Zornitza Stark Classified gene: NPHP3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.30 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 MYOCD Chirag Patel reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31513549; Phenotypes: Megabladder, congenital heart disease, cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Marked gene: BBS1 as ready
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Classified gene: BBS1 as Green List (high evidence)
Ataxia - paediatric v0.12 BBS1 Bryony Thompson Gene: bbs1 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.11 BBS1 Bryony Thompson gene: BBS1 was added
gene: BBS1 was added to Ataxia - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS1 were set to 15637713
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900
Review for gene: BBS1 was set to GREEN
Added comment: Ataxia is a common feature of the phenotype
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 LIFR Chirag Patel changed review comment from: 4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.; to: 4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Marked gene: ZNF423 as ready
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Classified gene: ZNF423 as Red List (low evidence)
Ataxia - paediatric v0.10 ZNF423 Bryony Thompson Gene: znf423 has been classified as Red List (Low Evidence).
Ataxia - paediatric v0.9 ZNF423 Bryony Thompson reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 19, 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 GREB1L Chirag Patel reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FOXC2 Chirag Patel Classified gene: FOXC2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.46 FOXC2 Chirag Patel Gene: foxc2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FOXC2 Chirag Patel reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15523639; Phenotypes: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, OMIM #153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Classified gene: FGFR3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 FGFR3 Chirag Patel Gene: fgfr3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR3 Chirag Patel Deleted their comment
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from to STAR syndrome, MIM# 300707
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.44 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR3 Chirag Patel commented on gene: FGFR3: Not a prominent features of FGFR3 related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR3 Chirag Patel reviewed gene: FGFR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 FGF8 Chirag Patel Classified gene: FGF8 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 FGF8 Chirag Patel Gene: fgf8 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FAM58A Zornitza Stark Publications for gene: FAM58A were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 FGF8 Chirag Patel reviewed gene: FGF8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, OMIM #612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.43 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Other to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Classified gene: FGF10 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.42 FGF10 Chirag Patel Gene: fgf10 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson Marked gene: UBA1 as ready
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson Gene: uba1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson commented on gene: UBA1
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.41 FGF10 Chirag Patel reviewed gene: FGF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: LADD syndrome, OMIM #149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.41 FAM58A Zornitza Stark Mode of inheritance for gene: FAM58A was changed from Unknown to Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28225384, 18297069; Phenotypes: STAR syndrome, MIM# 300707; Mode of inheritance: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DHCR7 Chirag Patel reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 3812577, 10069707, 23059950, 9678700; Phenotypes: Smith-Lemli-Opitz syndrome, OMIM #270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Classified gene: COQ7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.39 COQ7 Chirag Patel Gene: coq7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel changed review comment from: only one patient with mito disease and happened to have hypoplastic kidneys.; to: only 2 patients reported
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel Classified gene: COQ7 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.38 COQ7 Chirag Patel Gene: coq7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 COQ7 Chirag Patel reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 CDC5L Zornitza Stark Classified gene: CDC5L as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 CDC5L Zornitza Stark Gene: cdc5l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 CHD1L Chirag Patel reviewed gene: CHD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 BNC2 Chirag Patel Classified gene: BNC2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 BNC2 Chirag Patel Gene: bnc2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.26 BNC2 Chirag Patel gene: BNC2 was added
gene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to PMID: 31656805, 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
Added comment: Kolvenbach CM et al., (2019) supports the rating of this gene from Amber to Green. Though exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853∗]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.25 CDC5L Zornitza Stark Classified gene: CDC5L as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.25 CDC5L Zornitza Stark Gene: cdc5l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel changed review comment from: only 1 patient in large cohort of CAKUT.; to: only 1 family with mouse model in large cohort of CAKUT.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel Classified gene: BMP7 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel Gene: bmp7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BMP7 Chirag Patel reviewed gene: BMP7: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 BMP4 Chirag Patel reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BICC1 Chirag Patel Classified gene: BICC1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BICC1 Chirag Patel Gene: bicc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.22 BICC1 Chirag Patel reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 21922595; Phenotypes: {Renal dysplasia, cystic, susceptibility to}, OMIM #601331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Arthrogryposis v0.16 TBCD Tiong Tan gene: TBCD was added
gene: TBCD was added to Arthrogryposis. Sources: Literature
umccr tags were added to gene: TBCD.
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Penetrance for gene: TBCD were set to Complete
Review for gene: TBCD was set to GREEN
Added comment: Sources: Literature
Complement Deficiencies v0.7 Zornitza Stark Panel name changed from Complement deficiencies to Complement Deficiencies
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Combined Immunodeficiency v0.38 Zornitza Stark Panel name changed from Combined immunodeficiency to Combined Immunodeficiency
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Cobblestone Malformations v0.2 Zornitza Stark Panel name changed from Cobblestone malformations to Cobblestone Malformations
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Ciliopathies v0.62 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Ciliary Dyskinesia v0.8 Zornitza Stark Panel name changed from Ciliary dyskinesia to Ciliary Dyskinesia
Ciliary Dyskinesia v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Chromosome Breakage Disorders v0.8 Zornitza Stark Panel name changed from Chromosome breakage disorders to Chromosome Breakage Disorders
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.798 TET3 Zornitza Stark Marked gene: TET3 as ready
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.798 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Mendeliome v0.798 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Mendeliome v0.797 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Mendeliome v0.796 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Marked gene: TET3 as ready
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Classified gene: TET3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1599 TET3 Zornitza Stark Gene: tet3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1598 TET3 Zornitza Stark gene: TET3 was added
gene: TET3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to Intellectual disability; dysmorphic features; abnormal growth; movement disorders
Review for gene: TET3 was set to GREEN
Added comment: Eleven individuals from 8 families described. Mono-allelic frameshift and nonsense variants occur throughout the coding region. Mono-allelic and bi-allelic missense variants localize to conserved residues; all but one such variant occur within the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.
Sources: Literature
Chondrodysplasia Punctata v0.2 Zornitza Stark Panel name changed from Chondrodysplasia punctata to Chondrodysplasia Punctata
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cholestasis v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brain Channelopathies v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebral Palsy v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebellar and Pontocerebellar Hypoplasia v0.9 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia to Cerebellar and Pontocerebellar Hypoplasia
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Central Hypoventilation v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Catecholaminergic Polymorphic Ventricular Tachycardia v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cardiomyopathy_Adult_SuperPanel v0.19 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease
Lissencephaly and Band Heterotopia v0.10 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Lissencephaly and Band Heterotopia v0.9 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia to Lissencephaly and Band Heterotopia
Renal Tubulointerstitial Disease v0.9 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Renal Macrocystic Disease v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Renal Ciliopathies and Nephronophthisis v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Cancer Predisposition_Paediatric v0.10 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Callosome v0.57 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brugada syndrome v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Brain Calcification v0.14 Zornitza Stark Panel name changed from Brain calcification to Brain Calcification
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bone Marrow Failure v0.23 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Blepharophimosis v0.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bleeding and Platelet Disorders v0.4 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bardet Biedl syndrome v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Autism v0.38 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Atypical Haemolytic Uraemic Syndrome_MPGN v0.28 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Atrial Fibrillation v0.2 Zornitza Stark Panel name changed from Atrial fibrillation to Atrial Fibrillation
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arthrogryposis v0.15 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arrhythmogenic Cardiomyopathy v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Arrhythmia_SuperPanel v0.13 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease
Aortopathy_Connective Tissue Disorders v0.11 Zornitza Stark Panel name changed from Aortopathy_Connective tissue disorders to Aortopathy_Connective Tissue Disorders
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Anophthalmia_Microphthalmia_Coloboma v0.40 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Angelman Rett like syndromes v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Alternating Hemiplegia and Hemiplegic Migraine v0.7 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Alagille syndrome v0.3 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Severe Combined Immunodeficiency (absent T present B cells) v0.6 Sebastian Lunke Panel name changed from Severe Combined Immunodeficiency (absent T, present B cells) to Severe Combined Immunodeficiency (absent T present B cells)
Severe Combined Immunodeficiency (absent T absent B cells) v0.4 Sebastian Lunke Panel name changed from Severe Combined Immunodeficiency (absent T, absent B cells) to Severe Combined Immunodeficiency (absent T absent B cells)
Intellectual disability syndromic and non-syndromic v0.1596 Sebastian Lunke Panel name changed from Intellectual disability, syndromic and non-syndromic to Intellectual disability syndromic and non-syndromic
Alternating Hemiplegia and Hemiplegic Migraine v0.6 Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine to Alternating Hemiplegia and Hemiplegic Migraine
Susceptibility to Fungal Infections v0.3 Zornitza Stark Panel name changed from Susceptibility to fungal infections_MelbourneGenomics_VCGS to Susceptibility to Fungal Infections
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Lysosomal Storage Disorder v0.1 Zornitza Stark Panel name changed from Storage Disorder_VCGS to Storage Disorder
Panel types changed to Victorian Clinical Genetics Services
Spondylocostal Dysostosis v0.2 Zornitza Stark Panel name changed from Spondylocostal Dysostosis_VCGS to Spondylocostal Dysostosis
Panel types changed to Victorian Clinical Genetics Services
Skeletal Dysplasia_Fetal v0.12 Zornitza Stark Panel name changed from Skeletal dysplasia Fetal_MelbourneGenomics_VCGS to Skeletal Dysplasia_Fetal
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Skeletal dysplasia v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Sick sinus syndrome v0.1 Zornitza Stark Panel name changed from Sick sinus syndrome_VCGS to Sick sinus syndrome
Panel types changed to Victorian Clinical Genetics Services
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy v0.10 Zornitza Stark Panel name changed from Short Rib Polydactyly, Jeune Asphyxiating Thoracic Dystrophy_VCGS to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy
Panel types changed to Victorian Clinical Genetics Services
Short QT syndrome v0.1 Zornitza Stark Panel name changed from Short QT syndrome_VCGS to Short QT syndrome
Panel types changed to Victorian Clinical Genetics Services
Short Long Bones with Advanced Carpal Bone Age v0.1 Zornitza Stark Panel name changed from Short long bones with advanced carpal bone age_VCGS to Short Long Bones with Advanced Carpal Bone Age
Panel types changed to Victorian Clinical Genetics Services
Severe Combined Immunodeficiency (absent T present B cells) v0.5 Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS to Severe Combined Immunodeficiency (absent T, present B cells)
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Severe Combined Immunodeficiency (absent T absent B cells) v0.3 Zornitza Stark Panel name changed from Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS to Severe Combined Immunodeficiency (absent T, absent B cells)
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Renal Tubulointerstitial Disease v0.8 Zornitza Stark Panel name changed from Renal tubulointerstitial disease_KidGen_VCGS to Renal Tubulointerstitial Disease
Panel types changed to Victorian Clinical Genetics Services; KidGen
Renal Macrocystic Disease v0.18 Zornitza Stark Panel name changed from Renal macrocystic disease_KidGen_VCGS to Renal Macrocystic Disease
Panel types changed to Victorian Clinical Genetics Services; KidGen
Hypertension and Aldosterone disorders v0.2 Zornitza Stark Panel name changed from Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS to Renal Hypertension and Disorders of Aldosterone Metabolism
Panel types changed to Victorian Clinical Genetics Services; KidGen
Renal Glomerular Disease_SuperPanel v0.149 Zornitza Stark Panel name changed from Renal glomerular disease_SuperPanel_VCGS_KidGen to Renal Glomerular Disease_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Renal Cystic Disease_SuperPanel v0.104 Zornitza Stark Panel name changed from Renal cystic disease_SuperPanel_KidGen_VCGS to Renal Cystic Disease_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Renal Ciliopathies and Nephronophthisis v0.93 Zornitza Stark Panel name changed from Renal ciliopathies and nephronophthisis_KidGen_VCGS to Renal Ciliopathies and Nephronophthisis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Amyloidosis v0.20 Zornitza Stark Panel name changed from Renal amyloidosis_KidGen_VCGS to Renal Amyloidosis
Panel types changed to Victorian Clinical Genetics Services; KidGen
Calcium and Phosphate disorders v0.7 Zornitza Stark Panel name changed from Renal abnormalities of calcium and phosphate metabolism_KidGen_VCGS to Renal abnormalities of calcium and phosphate metabolism
Panel types changed to Victorian Clinical Genetics Services; KidGen
Regression v0.60 Zornitza Stark Panel name changed from Regression_VCGS to Regression
Panel types changed to Victorian Clinical Genetics Services
Rasopathy v0.1 Zornitza Stark Panel name changed from Rasopathy_VCGS to Rasopathy
Panel types changed to Victorian Clinical Genetics Services
Radial Ray Abnormalities v0.4 Zornitza Stark Panel name changed from Radial Ray Abnormalities_VCGS to Radial Ray Abnormalities
Panel types changed to Victorian Clinical Genetics Services
Pulmonary Fibrosis_Interstitial Lung Disease v0.4 Zornitza Stark Panel name changed from Pulmonary Fibrosis_VCGS to Pulmonary Fibrosis_Interstitial Lung Disease
Panel types changed to Victorian Clinical Genetics Services
Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.1 Zornitza Stark Panel name changed from Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS to Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Panel types changed to Victorian Clinical Genetics Services
Proteinuria v0.100 Zornitza Stark Panel name changed from Proteinuria_VCGS_KidGen to Proteinuria
Panel types changed to Victorian Clinical Genetics Services; KidGen
Predominantly Antibody Deficiency v0.10 Zornitza Stark Panel name changed from Predominantly antibody deficiency_MelbourneGenomics_VCGS to Predominantly Antibody Deficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Polymicrogyria and Schizencephaly v0.11 Zornitza Stark Panel name changed from Polymicrogyria and schizencephaly_AustralianGenomics_VCGS to Polymicrogyria and Schizencephaly
Panel types changed to Victorian Clinical Genetics Services
Polydactyly v0.19 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Polydactyly v0.19 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Polydactyly v0.19 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.18 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM#203800
Polydactyly v0.17 ALMS1 Zornitza Stark Classified gene: ALMS1 as Red List (low evidence)
Polydactyly v0.17 ALMS1 Zornitza Stark Gene: alms1 has been classified as Red List (Low Evidence).
Polydactyly v0.16 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.16 Zornitza Stark Panel name changed from Polydactyly_VCGS to Polydactyly
Panel types changed to Victorian Clinical Genetics Services
Pierre Robin Sequence v0.1 Zornitza Stark Panel name changed from Pierre Robin sequence _VCGS to Pierre Robin Sequence
Panel types changed to Victorian Clinical Genetics Services
Photosensitivity Syndromes v0.1 Zornitza Stark Panel name changed from Photosensitivity syndromes_VCGS to Photosensitivity Syndromes
Panel types changed to Victorian Clinical Genetics Services
Phagocyte Defects v0.5 Zornitza Stark Panel name changed from Phagocyte defects_MelbourneGenomics_VCGS to Phagocyte Defects
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Peroxisomal Disorders v0.1 Zornitza Stark Panel name changed from Peroxisomal Disorders_VCGS to Peroxisomal Disorders
Panel types changed to Victorian Clinical Genetics Services
Periventricular Grey Matter Heterotopia v0.4 Zornitza Stark Panel name changed from Periventricular grey matter heterotopia_AustralianGenomics_VCGS to Periventricular Grey Matter Heterotopia
Panel types changed to Victorian Clinical Genetics Services
Paroxysmal Dyskinesia v0.6 Zornitza Stark Panel name changed from Paroxysmal dyskinesia_VCGS to Paroxysmal Dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Pancreatitis v0.1 Zornitza Stark Panel name changed from Pancreatitis_VCGS to Pancreatitis
Panel types changed to Victorian Clinical Genetics Services
Palmoplantar Keratoderma and Erythrokeratoderma v0.1 Zornitza Stark Panel name changed from Palmoplantar keratoderma and erythrokeratoderma_VCGS to Palmoplantar Keratoderma and Erythrokeratoderma
Panel types changed to Victorian Clinical Genetics Services
Overgrowth v0.8 Zornitza Stark Panel name changed from Overgrowth_VCGS to Overgrowth
Panel types changed to Victorian Clinical Genetics Services
Osteopetrosis v0.1 Zornitza Stark Panel name changed from Osteopetrosis_VCGS to Osteopetrosis
Panel types changed to Victorian Clinical Genetics Services
Osteogenesis Imperfecta and Osteoporosis v0.3 Zornitza Stark Panel name changed from Osteogenesis imperfecta_VCGS to Osteogenesis Imperfecta
Panel types changed to Victorian Clinical Genetics Services
Optic Atrophy v0.5 Zornitza Stark Panel name changed from Optic Atrophy_VCGS to Optic Atrophy
Panel types changed to Victorian Clinical Genetics Services
Oligodontia v0.1 Zornitza Stark Panel name changed from Oligodontia_VCGS to Oligodontia
Panel types changed to Victorian Clinical Genetics Services
Ocular and Oculocutaneous Albinism v0.2 Zornitza Stark Panel name changed from Ocular and oculocutaneous albinism_VCGS to Ocular and Oculocutaneous Albinism
Panel types changed to Victorian Clinical Genetics Services
Neurotransmitter Defects v0.1 Zornitza Stark Panel name changed from Neurotransmitter Defect_VCGS to Neurotransmitter Defects
Panel types changed to Victorian Clinical Genetics Services
Motor Neurone Disease v0.2 Zornitza Stark Panel name changed from Motor neuron disease_MND to Motor Neuron Disease
Arrhythmogenic Cardiomyopathy v0.2 Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_ARVC to Arrhythmogenic Right Ventricular Cardiomyopathy
Catecholaminergic Polymorphic Ventricular Tachycardia v0.2 Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia_CPVT to Catecholaminergic Polymorphic Ventricular Tachycardia
Dilated Cardiomyopathy v0.7 Zornitza Stark Panel name changed from Dilated cardiomyopathy_DCM to Dilated Cardiomyopathy
Brugada syndrome v0.2 Zornitza Stark Panel name changed from Brugada syndrome_VCGS to Brugada syndrome
Muscular dystrophy and myopathy_Paediatric v0.6 Zornitza Stark Panel name changed from Muscular dystrophy_VCGS to Muscular dystrophy
Panel types changed to Victorian Clinical Genetics Services
Multiple pterygium syndrome_Fetal akinesia sequence v0.1 Zornitza Stark Panel name changed from Multiple pterygium syndromeVCGS to Multiple pterygium syndrome
Panel types changed to Victorian Clinical Genetics Services
Motor Neurone Disease v0.1 Zornitza Stark Panel name changed from Motor neuron disease MND_MelbourneGenomics_VCGS to Motor neuron disease_MND
Panel types changed to Victorian Clinical Genetics Services
Mitochondrial disease v0.39 Zornitza Stark Panel name changed from Mitochondrial_AustralianGenomics_VCGS to Mitochondrial disease
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Microcephaly v0.70 Zornitza Stark Panel name changed from Microcephaly_VCGS to Microcephaly
Panel types changed to Victorian Clinical Genetics Services
Mendeliome v0.795 Zornitza Stark Panel name changed from Mendeliome_VCGS to Mendeliome
Mandibulofacial Acrofacial dysostosis v0.1 Zornitza Stark Panel name changed from Mandibulofacial Acrofacial dysostosis_VCGS to Mandibulofacial Acrofacial dysostosis
Panel types changed to Victorian Clinical Genetics Services
Macrocephaly_Megalencephaly v0.12 Zornitza Stark Panel name changed from Macrocephaly/Megalencephaly_VCGS to Macrocephaly_Megalencephaly
Panel types changed to Victorian Clinical Genetics Services
Lymphoedema_nonsyndromic v0.1 Zornitza Stark Panel name changed from Lymphedema_VCGS to Lymphoedema
Panel types changed to Victorian Clinical Genetics Services
Long QT Syndrome v0.1 Zornitza Stark Panel name changed from Long QT syndrome_VCGS to Long QT Syndrome
Panel types changed to Victorian Clinical Genetics Services
Lissencephaly and Band Heterotopia v0.8 Zornitza Stark Panel name changed from Lissencephaly and band heterotopia_AustralianGenomics_VCGS to Lissencephaly and band heterotopia
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Lipodystrophy_Lipoatrophy v0.1 Zornitza Stark Panel name changed from Lipodystrophy / Lipoatrophy_VCGS to Lipodystrophy_Lipoatrophy
Panel types changed to Victorian Clinical Genetics Services
Kidneyome_SuperPanel v0.241 Zornitza Stark Panel name changed from Kidneyome_SuperPanel_KidGen_VCGS to Kidneyome_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Kabuki syndrome v0.1 Zornitza Stark Panel name changed from Kabuki syndrome_VCGS to Kabuki syndrome
Panel types changed to Victorian Clinical Genetics Services
Joubert syndrome and other neurological ciliopathies v0.10 Zornitza Stark Panel name changed from Joubert syndrome and other cerebellar malformations_VCGS to Joubert syndrome and other cerebellar malformations
Panel types changed to Victorian Clinical Genetics Services
Interstitial Lung Disease v0.2 Zornitza Stark Panel name changed from Interstitial Lung Disease_VCGS_AusGenomics to Interstitial Lung Disease
Panel types changed to Australian Genomics
Intellectual disability syndromic and non-syndromic v0.1595 Zornitza Stark Panel name changed from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS to Intellectual disability, syndromic and non-syndromic
Panel types changed to Genetic Health Queensland; Victorian Clinical Genetics Services
Inflammatory bowel disease v0.3 Zornitza Stark Panel name changed from Inflammatory bowel disease_VCGS to Inflammatory bowel disease
Panel types changed to Victorian Clinical Genetics Services
Incidentalome v0.7 Zornitza Stark Panel name changed from Incidentalome_VCGS to Incidentalome
Panel types changed to Victorian Clinical Genetics Services
Immunological disorders_SuperPanel v0.112 Zornitza Stark Panel name changed from Immunological disorders_SuperPanel_VCGS to Immunological disorders_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Ichthyosis v0.6 Zornitza Stark Panel name changed from Ichthyosis_VCGS to Ichthyosis
Panel types changed to Victorian Clinical Genetics Services
Hypertrophic cardiomyopathy_HCM v0.5 Zornitza Stark Panel name changed from Hypertrophic cardiomyopathy_VCGS to Hypertrophic cardiomyopathy_HCM
Panel types changed to Victorian Clinical Genetics Services
Hypertrichosis syndromes v0.4 Zornitza Stark Panel name changed from Hypertrichosis syndromes_VCGS to Hypertrichosis syndromes
Panel types changed to Victorian Clinical Genetics Services
Hyperinsulinism v0.1 Zornitza Stark Panel name changed from Hyperinsulinism_VCGS to Hyperinsulinism
Panel types changed to Victorian Clinical Genetics Services
Hypercalcaemia v0.1 Zornitza Stark Panel name changed from Hypercalcaemia_VCGS to Hypercalcaemia
Panel types changed to Victorian Clinical Genetics Services
Hydrops fetalis v0.105 Zornitza Stark Panel name changed from Hydrops fetalis_VCGS to Hydrops fetalis
Panel types changed to Victorian Clinical Genetics Services
Hydrocephalus_Ventriculomegaly v0.11 Zornitza Stark Panel name changed from Hydrocephalus/Ventriculomegaly_VCGS to Hydrocephalus_Ventriculomegaly
Panel types changed to Victorian Clinical Genetics Services
Holoprosencephaly and septo-optic dysplasia v0.6 Zornitza Stark Panel name changed from Holoprosencephaly and septo-optic dysplasia_VCGS to Holoprosencephaly and septo-optic dysplasia
Panel types changed to Victorian Clinical Genetics Services
Hirschsprung disease v0.1 Zornitza Stark Panel name changed from Hirschsprung disease_VCGS to Hirschsprung disease
Panel types changed to Victorian Clinical Genetics Services
Heterotaxy v0.4 Zornitza Stark Panel name changed from Heterotaxy_VCGS to Heterotaxy
Panel types changed to Victorian Clinical Genetics Services
Hereditary angioedema v0.3 Zornitza Stark Panel name changed from Hereditary angioedema_MelbourneGenomics_VCGS to Hereditary angioedema
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Marked gene: EXOSC8 as ready
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Classified gene: EXOSC8 as Red List (low evidence)
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.2 EXOSC8 Bryony Thompson reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.25 Zornitza Stark Panel name changed from Haematuria_VCGS_KidGen to Haematuria
Panel types changed to Victorian Clinical Genetics Services; KidGen
Glycogen Storage Diseases v0.1 Zornitza Stark Panel name changed from Glycogen Storage Diseases_VCGS to Glycogen Storage Diseases
Panel types changed to Victorian Clinical Genetics Services
Glaucoma congenital v0.1 Zornitza Stark Panel name changed from Glaucoma congenital_VCGS to Glaucoma congenital
Panel types changed to Victorian Clinical Genetics Services
Genetic Epilepsy v0.184 Zornitza Stark Panel name changed from Genetic Epilepsy_AustralianGenomics_VCGS to Genetic Epilepsy
Panel types changed to Victorian Clinical Genetics Services
Frontonasal dysplasia v0.1 Zornitza Stark Panel name changed from Frontonasal dysplasia_VCGS to Frontonasal dysplasia
Panel types changed to Victorian Clinical Genetics Services
Fatty Acid Oxidation Defects v0.1 Zornitza Stark Panel name changed from Fatty Oxidation Defects_VCGS to Fatty Oxidation Defects
Panel types changed to Victorian Clinical Genetics Services
Familial hypercholesterolaemia v0.6 Zornitza Stark Panel name changed from Familial hypercholesterolaemia_VCGS to Familial hypercholesterolaemia
Panel types changed to Victorian Clinical Genetics Services
Eye Anterior Segment Abnormalities v0.5 Zornitza Stark Panel name changed from Eye Anterior Segment Abnormalities_VCGS to Eye Anterior Segment Abnormalities
Panel types changed to Victorian Clinical Genetics Services
Epidermolysis bullosa v0.4 Zornitza Stark Panel name changed from Epidermolysis bullosa_VCGS to Epidermolysis bullosa
Panel types changed to Victorian Clinical Genetics Services
Early-onset Parkinson disease v0.7 Zornitza Stark Panel name changed from Early onset Parkinson disease_MelbourneGenomics_VCGS to Early onset Parkinson disease
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Early-onset Dementia v0.1 Zornitza Stark Panel name changed from Early-onset Dementia_MGHA_VCGS to Early-onset Dementia
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Differences of Sex Development v0.6 Zornitza Stark Panel name changed from Disorders of Sex Differentiation_VCGS to Disorders of Sex Differentiation
Panel types changed to Victorian Clinical Genetics Services
Disorders of immune dysregulation v0.21 Zornitza Stark Panel name changed from Disorders of immune dysregulation_MelbourneGenomics_VCGS to Disorders of immune dysregulation
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Dilated Cardiomyopathy v0.5 Zornitza Stark Panel name changed from Dilated cardiomyopathy_VCGS to Dilated cardiomyopathy_DCM
Panel types changed to Victorian Clinical Genetics Services
Diamond Blackfan anaemia v0.1 Zornitza Stark Panel name changed from Diamond Blackfan anaemia_VCGS to Diamond Blackfan anaemia
Panel types changed to Victorian Clinical Genetics Services
Desmosomal disorders v0.1 Zornitza Stark Panel name changed from Desmosomal disorders_VCGS to Desmosomal disorders
Panel types changed to Victorian Clinical Genetics Services
Defects of intrinsic and innate immunity v0.5 Zornitza Stark Panel name changed from Defects of innate immunity_MelbourneGenomics_VCGS to Defects of innate immunity
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Deafness_IsolatedAndComplex v0.230 Zornitza Stark Panel name changed from Deafness_MelbourneGenomics_VCGS to Deafness
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Craniosynostosis v0.1 Zornitza Stark Panel name changed from Craniosynostosis_VCGS to Craniosynostosis
Panel types changed to Victorian Clinical Genetics Services
Corneal Dystrophy v0.1 Zornitza Stark Panel name changed from Corneal Dystrophy_VCGS to Corneal Dystrophy
Panel types changed to Victorian Clinical Genetics Services
Congenital Heart Defect v0.5 Zornitza Stark Panel name changed from Congenital Heart Defect_VCGS to Congenital Heart Defect
Panel types changed to Victorian Clinical Genetics Services
Congenital Disorders of Glycosylation v0.8 Zornitza Stark Panel name changed from Congenital Disorders of Glycosylation_VCGS to Congenital Disorders of Glycosylation
Panel types changed to Victorian Clinical Genetics Services
Congenital Diarrhoea v0.1 Zornitza Stark Panel name changed from Congenital Diarrhoea_VCGS to Congenital Diarrhoea
Panel types changed to Victorian Clinical Genetics Services
Congenital diaphragmatic hernia v0.1 Zornitza Stark Panel name changed from Congenital diaphragmatic hernia, CDH_VCGS to Congenital diaphragmatic hernia
Panel types changed to Victorian Clinical Genetics Services
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.37 Zornitza Stark Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Panel types changed to Victorian Clinical Genetics Services
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.22 Zornitza Stark Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v0.49 Zornitza Stark Panel name changed from Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
Complement Deficiencies v0.6 Zornitza Stark Panel name changed from Complement deficiencies_MelbourneGenomics_VCGS to Complement deficiencies
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Common Variable Immunodeficiency v0.5 Zornitza Stark Panel name changed from Common Variable Immunodeficiency_MelbourneGenomics_VCGS to Common Variable Immunodeficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Combined Immunodeficiency v0.37 Zornitza Stark Panel name changed from Combined immunodeficiency_MelbourneGenomics_VCGS to Combined immunodeficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Cobblestone Malformations v0.1 Zornitza Stark Panel name changed from Cobblestone malformations_AustralianGenomics to Cobblestone malformations
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Ciliopathies v0.61 Zornitza Stark Panel name changed from Ciliopathies_VCGS to Ciliopathies
Panel types changed to Victorian Clinical Genetics Services
Ciliary Dyskinesia v0.6 Zornitza Stark Panel name changed from Ciliary dyskinesia_VCGS to Ciliary dyskinesia
Panel types changed to Victorian Clinical Genetics Services
Chromosome Breakage Disorders v0.7 Zornitza Stark Panel name changed from Chromosome breakage disorders_VCGS to Chromosome breakage disorders
Panel types changed to Victorian Clinical Genetics Services
Chondrodysplasia Punctata v0.1 Zornitza Stark Panel name changed from Chondrodysplasia punctata_VCGS to Chondrodysplasia punctata
Panel types changed to Victorian Clinical Genetics Services
Cholestasis v0.2 Zornitza Stark Panel name changed from Cholestasis_VCGS to Cholestasis
Panel types changed to Victorian Clinical Genetics Services
Brain Channelopathies v0.4 Zornitza Stark Panel name changed from Channelopathy_VCGS to Channelopathy
Panel types changed to Victorian Clinical Genetics Services
Cerebral Palsy v0.9 Zornitza Stark Panel name changed from Cerebral Palsy_VCGS to Cerebral Palsy
Panel types changed to Victorian Clinical Genetics Services
Cerebellar and Pontocerebellar Hypoplasia v0.8 Zornitza Stark Panel name changed from Cerebellar and Pontocerebellar hypoplasia_VCGS to Cerebellar and Pontocerebellar hypoplasia
Panel types changed to Victorian Clinical Genetics Services
Central Hypoventilation v0.3 Zornitza Stark Panel name changed from Central Hypoventilation_VCGS to Central Hypoventilation
Panel types changed to Victorian Clinical Genetics Services
Catecholaminergic Polymorphic Ventricular Tachycardia v0.1 Zornitza Stark Panel name changed from Catecholaminergic polymorphic ventricular tachycardia (CPVT)_VCGS to Catecholaminergic polymorphic ventricular tachycardia_CPVT
Panel types changed to Victorian Clinical Genetics Services
Cataract v0.9 Zornitza Stark Panel name changed from Cataract_VCGS to Cataract
Panel types changed to Victorian Clinical Genetics Services
Cardiomyopathy_Adult_SuperPanel v0.10 Zornitza Stark Panel name changed from Cardiomyopathy_SuperPanel_VCGS to Cardiomyopathy_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Cancer Predisposition_Paediatric v0.9 Zornitza Stark Panel name changed from Cancer Predisposition_Paediatric_VCGS to Cancer Predisposition_Paediatric
Panel types changed to Victorian Clinical Genetics Services
Callosome v0.56 Zornitza Stark Panel name changed from Callosome_VCGS to Callosome
Panel types changed to Victorian Clinical Genetics Services
Brugada syndrome v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Publications for gene: ASCC1 were set to
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Classified gene: ASCC1 as Red List (low evidence)
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Added comment: Comment on list classification: Not relevant for testing in an adult hospital. Onset of disease is prenatal and death occurs in the first days or months of life.
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Brain Calcification v0.13 Zornitza Stark Panel name changed from Brain calcification_VCGS to Brain calcification
Panel types changed to Victorian Clinical Genetics Services
Bone Marrow Failure v0.22 Zornitza Stark Panel name changed from Bone Marrow Failure_VCGS to Bone Marrow Failure
Panel types changed to Victorian Clinical Genetics Services
Blepharophimosis v0.1 Zornitza Stark Panel name changed from Blepharophimosis_VCGS to Blepharophimosis
Panel types changed to Victorian Clinical Genetics Services
Bleeding and Platelet Disorders v0.3 Zornitza Stark Panel name changed from Bleeding Disorders_VCGS to Bleeding Disorders
Panel types changed to Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.18 Zornitza Stark Panel name changed from Bardet Biedl syndrome_VCGS to Bardet Biedl syndrome
Panel types changed to Victorian Clinical Genetics Services
Autism v0.37 Zornitza Stark Panel name changed from Autism_VCGS to Autism
Panel types changed to Victorian Clinical Genetics Services
Atypical Haemolytic Uraemic Syndrome_MPGN v0.27 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN
Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital
Atrial Fibrillation v0.1 Zornitza Stark Panel name changed from Atrial fibrilation_VCGS to Atrial fibrillation
Panel types changed to Victorian Clinical Genetics Services
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Arthrogryposis v0.14 Zornitza Stark Panel name changed from Arthrogryposis_VCGS to Arthrogryposis
Panel types changed to Victorian Clinical Genetics Services
Susceptibility to Viral Infections v0.7 Sebastian Lunke Panel name changed from Susceptibility to viral infections_MelbourneGenomics_VCGS to Susceptibility to Viral Infections
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Arrhythmogenic Cardiomyopathy v0.1 Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_VCGS to Arrhythmogenic right ventricular cardiomyopathy_ARVC
Panel types changed to Victorian Clinical Genetics Services
Arrhythmia_SuperPanel v0.2 Zornitza Stark Panel name changed from Arrhythmia_SuperPanel_VCGS to Arrhythmia_SuperPanel
Panel types changed to Superpanel; Victorian Clinical Genetics Services
Aortopathy_Connective Tissue Disorders v0.10 Zornitza Stark Panel name changed from Aortopathy, Connective tissue disorder_VCGS to Aortopathy_Connective tissue disorders
Panel types changed to Victorian Clinical Genetics Services
Anophthalmia_Microphthalmia_Coloboma v0.39 Zornitza Stark Panel name changed from Anophthalmia, microphthalmia, coloboma_VCGS to Anophthalmia_Microphthalmia_Coloboma
Panel types changed to Victorian Clinical Genetics Services
Angelman Rett like syndromes v0.4 Zornitza Stark Panel name changed from Angelman Rett like syndromes_VCGS to Angelman Rett like syndromes
Panel types changed to Victorian Clinical Genetics Services
Alternating Hemiplegia and Hemiplegic Migraine v0.5 Zornitza Stark Panel name changed from Alternating hemiplegia including hemiplegic migraine_VCGS to Alternating hemiplegia including hemiplegic migraine
Panel types changed to Victorian Clinical Genetics Services
Autoinflammatory Disorders v0.10 Sebastian Lunke Panel name changed from Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS to Systemic Autoinflammatory Disease_Periodic Fever
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.1 Sebastian Lunke Panel name changed from Tuberous sclerosis, cortical dysplasia and hemimegalencephaly_AustralianGenomics_VCGS to Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Tubulinopathies v0.1 Sebastian Lunke Panel name changed from Tubulinopathies_AustralianGenomics_VCGS to Tubulinopathies
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services
Alagille syndrome v0.1 Zornitza Stark Panel name changed from Alagille syndrome_VCGS to Alagille syndrome
Panel types changed to Victorian Clinical Genetics Services
Vasculitis v0.6 Sebastian Lunke Panel name changed from Vasculitis_VCGS to Vasculitis
Panel types changed to Victorian Clinical Genetics Services
Ventricular Fibrillation v0.1 Sebastian Lunke Panel name changed from Ventricular fibrillation_VCGS to Ventricular Fibrillation
Panel types changed to Victorian Clinical Genetics Services
Additional findings_Adult v0.2 Zornitza Stark Panel name changed from Additional findings_Adult_MelbGenomics to Additional findings_Adult
Panel types changed to Melbourne Genomics
Intellectual disability syndromic and non-syndromic v0.1594 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Classified gene: HK1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1593 HK1 Natasha Brown Gene: hk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Marked gene: HK1 as ready
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown Gene: hk1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1592 HK1 Natasha Brown gene: HK1 was added
gene: HK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HK1 were set to PMID: 30778173
Mode of pathogenicity for gene: HK1 was set to Other
Review for gene: HK1 was set to GREEN
Added comment: 7 patients from 6 unrelated families with denovo missense variants in the N-terminal half of HK1
Sources: Literature
Bone Marrow Failure v0.21 STN1 Zornitza Stark Marked gene: STN1 as ready
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.21 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.20 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported with a multisystem disorder characterised by premature ageing, pancytopaenia, hypocellular bone marrow, osteopaenia, liver fibrosis, vascular telangiectasia, intracranial calcifications and leukodystrophy.
Sources: Expert list
Mendeliome v0.794 STN1 Zornitza Stark Marked gene: STN1 as ready
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.794 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Mendeliome v0.794 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.793 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Brain Calcification v0.12 STN1 Zornitza Stark Marked gene: STN1 as ready
Brain Calcification v0.12 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.12 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Brain Calcification v0.12 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.11 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341
Review for gene: STN1 was set to AMBER
Added comment: Two individuals from unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1591 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Intellectual disability syndromic and non-syndromic v0.1590 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Intellectual disability syndromic and non-syndromic v0.1589 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.183 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Genetic Epilepsy v0.182 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Genetic Epilepsy v0.181 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.10 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Brain Calcification v0.10 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Brain Calcification v0.10 SNORD118 Zornitza Stark Classified gene: SNORD118 as Green List (high evidence)
Brain Calcification v0.10 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Brain Calcification v0.9 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Review for gene: SNORD118 was set to GREEN
Added comment: Over 30 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Marked gene: FARSB as ready
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1588 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1587 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Marked gene: FARSB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 FARSB Zornitza Stark Phenotypes for gene: FARSB were changed from to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Pulmonary Fibrosis_Interstitial Lung Disease v0.2 FARSB Zornitza Stark Publications for gene: FARSB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.1 FARSB Zornitza Stark Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v0.8 FARSB Zornitza Stark Marked gene: FARSB as ready
Brain Calcification v0.8 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Brain Calcification v0.8 FARSB Zornitza Stark Classified gene: FARSB as Green List (high evidence)
Brain Calcification v0.8 FARSB Zornitza Stark Gene: farsb has been classified as Green List (High Evidence).
Brain Calcification v0.7 FARSB Zornitza Stark gene: FARSB was added
gene: FARSB was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARSB were set to 29573043; 19161147; 29979980; 30014610
Phenotypes for gene: FARSB were set to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability
Review for gene: FARSB was set to GREEN
Added comment: 7 unrelated families reported.
Sources: Expert list
Brain Calcification v0.6 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Brain Calcification v0.6 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Brain Calcification v0.6 AP1S2 Zornitza Stark Classified gene: AP1S2 as Green List (high evidence)
Brain Calcification v0.6 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Brain Calcification v0.5 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Brain calcification_VCGS. Sources: Expert list
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, MIM#304340
Review for gene: AP1S2 was set to GREEN
Added comment: Iron and calcium deposition in the brain is a feature of this condition.
Sources: Expert list
Mendeliome v0.792 Anthony Marty Panel types changed to Victorian Clinical Genetics Services
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Marked gene: GLIS2 as ready
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.92 GLIS2 Zornitza Stark Phenotypes for gene: GLIS2 were changed from to Nephronophthisis 7, OMIM#611498
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Publications for gene: GLIS2 were set to
Renal Ciliopathies and Nephronophthisis v0.91 GLIS2 Zornitza Stark Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Marked gene: B9D1 as ready
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Gene: b9d1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.90 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120 to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Phenotypes for gene: B9D1 were changed from to Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120
Renal Ciliopathies and Nephronophthisis v0.89 B9D1 Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Marked gene: EVC as ready
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.88 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome, MIM#225500 to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.87 EVC Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500
Renal Ciliopathies and Nephronophthisis v0.86 EVC Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.85 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM#602482
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Marked gene: IFT57 as ready
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Gene: ift57 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.84 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from Orofaciodigital syndrome XVIII, MIM#617927 to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.83 IFT57 Zornitza Stark Phenotypes for gene: IFT57 were changed from to Orofaciodigital syndrome XVIII, MIM#617927
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Marked gene: KIF14 as ready
Renal Ciliopathies and Nephronophthisis v0.82 KIF14 Zornitza Stark Gene: kif14 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.82 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Renal Ciliopathies and Nephronophthisis v0.81 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Renal Ciliopathies and Nephronophthisis v0.80 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Marked gene: POC1B as ready
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Gene: poc1b has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.79 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Mode of inheritance for gene: POC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.78 POC1B Zornitza Stark Phenotypes for gene: POC1B were changed from to Cone-rod dystrophy 20, MIM#615973
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Marked gene: SLC41A1 as ready
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.77 SLC41A1 Zornitza Stark Phenotypes for gene: SLC41A1 were changed from to Nephronophthisis; no OMIM number
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Publications for gene: SLC41A1 were set to
Renal Ciliopathies and Nephronophthisis v0.76 SLC41A1 Zornitza Stark Mode of inheritance for gene: SLC41A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Gene: wdr34 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.75 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Renal Ciliopathies and Nephronophthisis v0.74 WDR34 Zornitza Stark Mode of inheritance for gene: WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.73 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, OMIM #613159 to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Renal Ciliopathies and Nephronophthisis v0.72 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Renal Ciliopathies and Nephronophthisis v0.71 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Red List (Low Evidence).
Renal Ciliopathies and Nephronophthisis v0.70 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from Orofaciodigital syndrome XIV, MIM# 615948 to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.69 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948
Renal Ciliopathies and Nephronophthisis v0.68 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Haematuria_Alport v0.24 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Haematuria_Alport v0.23 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Haematuria_Alport v0.22 CUBN Zornitza Stark Marked gene: CUBN as ready
Haematuria_Alport v0.22 CUBN Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 FN1 Zornitza Stark Marked gene: FN1 as ready
Haematuria_Alport v0.22 FN1 Zornitza Stark Gene: fn1 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Haematuria_Alport v0.22 LMX1B Zornitza Stark Gene: lmx1b has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Haematuria_Alport v0.22 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 OCRL Zornitza Stark Marked gene: OCRL as ready
Haematuria_Alport v0.22 OCRL Zornitza Stark Gene: ocrl has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Marked gene: CFHR5 as ready
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Gene: cfhr5 has been classified as Red List (Low Evidence).
Haematuria_Alport v0.22 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from Nephropathy due to CFHR5 deficiency, MIM#614809 to Nephropathy due to CFHR5 deficiency, MIM#614809
Haematuria_Alport v0.21 CFHR5 Zornitza Stark Phenotypes for gene: CFHR5 were changed from to Nephropathy due to CFHR5 deficiency, MIM#614809
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Marked gene: ADAMTS13 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.26 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, OMIM #274150 to Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Atypical Haemolytic Uraemic Syndrome_MPGN v0.25 ADAMTS13 Zornitza Stark Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Atypical Haemolytic Uraemic Syndrome_MPGN v0.24 ADAMTS13 Zornitza Stark Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Marked gene: THBD as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926
Atypical Haemolytic Uraemic Syndrome_MPGN v0.23 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926
Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 THBD Zornitza Stark Publications for gene: THBD were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.22 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.21 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.791 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.791 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Mendeliome v0.791 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Mendeliome v0.790 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Review for gene: JAM2 was set to GREEN
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Brain Calcification v0.4 JAM2 Zornitza Stark Marked gene: JAM2 as ready
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.4 JAM2 Zornitza Stark Classified gene: JAM2 as Green List (high evidence)
Brain Calcification v0.4 JAM2 Zornitza Stark Gene: jam2 has been classified as Green List (High Evidence).
Brain Calcification v0.3 JAM2 Zornitza Stark gene: JAM2 was added
gene: JAM2 was added to Brain calcification_VCGS. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 31851307
Phenotypes for gene: JAM2 were set to Primary brain calcification
Added comment: Three unrelated families with bi-allelic variants reported. The clinical phenotypes of the four patients included parkinsonism (3/4), dysarthria (3/4), seizures (1/4), and probable asymptomatic (1/4), with diverse onset ages.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Marked gene: FAM160B1 as ready
Intellectual disability syndromic and non-syndromic v0.1586 FAM160B1 Zornitza Stark Gene: fam160b1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1586 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090 to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1585 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from to Bartter syndrome, type 3, MIM#607364; Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Marked gene: AP1B1 as ready
Intellectual disability syndromic and non-syndromic v0.1584 AP1B1 Zornitza Stark Gene: ap1b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Marked gene: CLCNKA as ready
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKA Zornitza Stark Gene: clcnka has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1584 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Intellectual disability syndromic and non-syndromic v0.1583 CLCNKB Zornitza Stark Mode of inheritance for gene: CLCNKB was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic, MIM#613090
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Marked gene: COASY as ready
Intellectual disability syndromic and non-syndromic v0.1582 COASY Zornitza Stark Gene: coasy has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1582 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Other to Other
Intellectual disability syndromic and non-syndromic v0.1581 CLCNKA Zornitza Stark Mode of inheritance for gene: CLCNKA was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.1580 COASY Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266 to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1580 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from Congenital disorder of glycosylation, type Iil, MIM#614576 to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Marked gene: COG6 as ready
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6 615643; Pontocerebellar hypoplasia, type 12 618266
Intellectual disability syndromic and non-syndromic v0.1579 COASY Zornitza Stark Publications for gene: COASY were set to 24360804; 30089828
Intellectual disability syndromic and non-syndromic v0.1579 COG6 Zornitza Stark Phenotypes for gene: COG6 were changed from to Congenital disorder of glycosylation, type Iil, MIM#614576
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Publications for gene: COASY were set to
Intellectual disability syndromic and non-syndromic v0.1578 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1577 COG6 Zornitza Stark Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1576 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Intellectual disability syndromic and non-syndromic v0.1575 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Marked gene: ETFA as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Intellectual disability syndromic and non-syndromic v0.1574 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1574 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Marked gene: KLF7 as ready
Intellectual disability syndromic and non-syndromic v0.1574 KLF7 Zornitza Stark Gene: klf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1574 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Intellectual disability syndromic and non-syndromic v0.1573 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Intellectual disability syndromic and non-syndromic v0.1572 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Marked gene: MED17 as ready
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1571 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Intellectual disability syndromic and non-syndromic v0.1570 MED17 Zornitza Stark Publications for gene: MED17 were set to
Intellectual disability syndromic and non-syndromic v0.1569 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Marked gene: METTL5 as ready
Intellectual disability syndromic and non-syndromic v0.1568 METTL5 Zornitza Stark Gene: mettl5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Intellectual disability syndromic and non-syndromic v0.1568 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1568 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Intellectual disability syndromic and non-syndromic v0.1567 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 18513682; 28857146
Intellectual disability syndromic and non-syndromic v0.1567 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1566 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1566 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11, MIM#618234
Intellectual disability syndromic and non-syndromic v0.1565 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Intellectual disability syndromic and non-syndromic v0.1564 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Marked gene: PIGG as ready
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1563 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, MIM#616917 to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1562 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Intellectual disability syndromic and non-syndromic v0.1561 PIGG Zornitza Stark Publications for gene: PIGG were set to 26996948
Intellectual disability syndromic and non-syndromic v0.1560 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Publications for gene: PIGG were set to
Intellectual disability syndromic and non-syndromic v0.1559 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Marked gene: PPP2CA as ready
Intellectual disability syndromic and non-syndromic v0.1558 PPP2CA Zornitza Stark Gene: ppp2ca has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Marked gene: PRKAR1A as ready
Intellectual disability syndromic and non-syndromic v0.1558 PRKAR1A Zornitza Stark Gene: prkar1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Intellectual disability syndromic and non-syndromic v0.1558 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1558 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from to Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000
Intellectual disability syndromic and non-syndromic v0.1557 SCN9A Zornitza Stark Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Classified gene: SCN9A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1556 SCN9A Zornitza Stark Gene: scn9a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Marked gene: SEMA3E as ready
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Gene: sema3e has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1555 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, MIM#214800 to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Intellectual disability syndromic and non-syndromic v0.1554 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Intellectual disability syndromic and non-syndromic v0.1553 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Marked gene: SMPD4 as ready
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1552 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from Severe neurodevelopmental delay, microcephaly, arthrogryposis to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1551 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Intellectual disability syndromic and non-syndromic v0.1550 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Intellectual disability syndromic and non-syndromic v0.1549 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Marked gene: SOX4 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SOX4 Zornitza Stark Gene: sox4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Marked gene: SPART as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Intellectual disability syndromic and non-syndromic v0.1548 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Marked gene: SVBP as ready
Intellectual disability syndromic and non-syndromic v0.1548 SVBP Zornitza Stark Gene: svbp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Intellectual disability syndromic and non-syndromic v0.1548 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Marked gene: TBCD as ready
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1548 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Intellectual disability syndromic and non-syndromic v0.1547 TBCD Zornitza Stark Publications for gene: TBCD were set to
Intellectual disability syndromic and non-syndromic v0.1546 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.789 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.789 TDP2 Zornitza Stark Classified gene: TDP2 as Green List (high evidence)
Mendeliome v0.789 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Mendeliome v0.788 TDP2 Zornitza Stark gene: TDP2 was added
gene: TDP2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 31410782; 30109272; 24658003
Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949
Review for gene: TDP2 was set to GREEN
Added comment: ID is part of the phenotype: 4 families with 6 affected patients, with functional evidence.

1 family with 3 affected sibs with homozygous splice site mutation in the TDP2 gene. Patient cell extracts showed absence of the full-length TDP2 protein and absence of 5-prime TDP activity, consistent with a loss of function, although 3-prime TDP activity, conferred by TDP1, was normal. In addition, patient lymphoblastoid cells were hypersensitive to the TOP2 poison etoposide. The findings indicated impaired capacity for double-strand break repair.

1 unrelated Egyptian patient with a similar disorder was homozygous for a truncating mutation in the TDP2 gene

1 unrelated Caucasian patient with same homozygous splice site mutation in the TDP2 gene. Western blot analysis did not detect TDP2 protein in patient primary skin fibroblasts. Patient fibroblasts showed an inability to rapidly repair topoisomerase-induced DNA double-strand breaks in the nucleus and also showed a profound hypersensitivity to this type of DNA damage. Complementation of patient cells with recombinant human TDP2 restored normal rates of nuclear DSB repair.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Marked gene: TDP2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TDP2 Zornitza Stark Gene: tdp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Marked gene: TERT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Marked gene: TKT as ready
Intellectual disability syndromic and non-syndromic v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Marked gene: TRAF7 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAF7 Zornitza Stark Gene: traf7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Marked gene: TRAPPC11 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRAPPC11 Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.787 TRMT1 Zornitza Stark Classified gene: TRMT1 as Green List (high evidence)
Mendeliome v0.787 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Mendeliome v0.786 TRMT1 Zornitza Stark gene: TRMT1 was added
gene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 30289604; 26308914; 21937992
Phenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302
Review for gene: TRMT1 was set to GREEN
Added comment: 4 families reported:
-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.
-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development
-2 unrelated Pakistani families with 4 patients with impaired intellectual development.
All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Marked gene: TRMT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRMT1 Zornitza Stark Gene: trmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Intellectual disability syndromic and non-syndromic v0.1545 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Intellectual disability syndromic and non-syndromic v0.1545 VPS37A Zornitza Stark Gene: vps37a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Marked gene: WDR37 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WDR37 Zornitza Stark Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Intellectual disability syndromic and non-syndromic v0.1545 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Marked gene: XPA as ready
Intellectual disability syndromic and non-syndromic v0.1545 XPA Zornitza Stark Gene: xpa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Intellectual disability syndromic and non-syndromic v0.1545 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Autism v0.36 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1545 ZSWIM6 Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from to None
Intellectual disability syndromic and non-syndromic v0.1544 ZSWIM6 Zornitza Stark Publications for gene: ZSWIM6 were set to
Intellectual disability syndromic and non-syndromic v0.1543 ZSWIM6 Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865
Intellectual disability syndromic and non-syndromic v0.1542 ZSWIM6 Zornitza Stark Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MAGT1 Zornitza Stark Gene: magt1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Intellectual disability syndromic and non-syndromic v0.1541 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1541 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.785 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Mendeliome v0.785 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Mendeliome v0.785 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.785 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Mendeliome v0.784 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.

1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.783 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Mendeliome v0.782 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Mendeliome v0.782 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.7 SLC35A3 Zornitza Stark Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.6 SLC35A3 Zornitza Stark Publications for gene: SLC35A3 were set to
Congenital Disorders of Glycosylation v0.5 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from to Arthrogryposis, mental retardation, and seizures; OMIM #615553
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Classified gene: SLC35A3 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v0.4 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.781 SLC9A7 Zornitza Stark Classified gene: SLC9A7 as Amber List (moderate evidence)
Mendeliome v0.781 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.780 SLC9A7 Zornitza Stark gene: SLC9A7 was added
gene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024
Review for gene: SLC9A7 was set to AMBER
Added comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Marked gene: SLC9A7 as ready
Intellectual disability syndromic and non-syndromic v0.1540 SLC9A7 Zornitza Stark Gene: slc9a7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Marked gene: SNRPN as ready
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Gene: snrpn has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 SNRPN Zornitza Stark Tag SV/CNV tag was added to gene: SNRPN.
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Classified gene: TCTN3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1540 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.779 KIAA1161 Zornitza Stark Classified gene: KIAA1161 as Green List (high evidence)
Mendeliome v0.779 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Mendeliome v0.778 KIAA1161 Zornitza Stark gene: KIAA1161 was added
gene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Brain Calcification v0.2 KIAA1161 Zornitza Stark Marked gene: KIAA1161 as ready
Brain Calcification v0.2 KIAA1161 Zornitza Stark Gene: kiaa1161 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.38 Zornitza Stark removed gene:TEMN3-AS1 from the panel
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Marked gene: TEMN3-AS1 as ready
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Classified gene: TEMN3-AS1 as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v0.37 TEMN3-AS1 Zornitza Stark Gene: temn3-as1 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.36 TEMN3-AS1 Zornitza Stark gene: TEMN3-AS1 was added
gene: TEMN3-AS1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list
Mode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEMN3-AS1 were set to 27103084; 30513139; 30513139; 22766609
Phenotypes for gene: TEMN3-AS1 were set to Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145
Review for gene: TEMN3-AS1 was set to GREEN
Added comment: Three families with syndromic microphthalmia and one family with non-syndromic microphthalmia reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Intellectual disability syndromic and non-syndromic v0.1539 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Marked gene: TUFM as ready
Intellectual disability syndromic and non-syndromic v0.1539 TUFM Zornitza Stark Gene: tufm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Intellectual disability syndromic and non-syndromic v0.1539 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Mendeliome v0.777 ZC3H14 Zornitza Stark Added comment: Comment when marking as ready: Two families reported.
Mendeliome v0.777 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.777 ZC3H14 Zornitza Stark Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125
Mendeliome v0.776 ZC3H14 Zornitza Stark Publications for gene: ZC3H14 were set to
Mendeliome v0.775 ZC3H14 Zornitza Stark Classified gene: ZC3H14 as Amber List (moderate evidence)
Mendeliome v0.775 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Marked gene: ZC3H14 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ZC3H14 Zornitza Stark Gene: zc3h14 has been classified as Amber List (Moderate Evidence).
Brain Calcification v0.2 KIAA1161 Chirag Patel Classified gene: KIAA1161 as Green List (high evidence)
Brain Calcification v0.2 KIAA1161 Chirag Patel Gene: kiaa1161 has been classified as Green List (High Evidence).
Brain Calcification v0.1 KIAA1161 Chirag Patel gene: KIAA1161 was added
gene: KIAA1161 was added to Brain calcification_VCGS. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PubMed: 30656188, 30649222, 30460687, 29910000
Phenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317
Review for gene: KIAA1161 was set to GREEN
Added comment: Total 9 families, but no functional evidence:

12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function.

1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.

2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed.

4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed.
Sources: Literature
Mendeliome v0.774 ZFHX3 Zornitza Stark Marked gene: ZFHX3 as ready
Mendeliome v0.774 ZFHX3 Zornitza Stark Added comment: Comment when marking as ready: Emerging evidence.
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.774 ZFHX3 Zornitza Stark Classified gene: ZFHX3 as Amber List (moderate evidence)
Mendeliome v0.774 ZFHX3 Zornitza Stark Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.773 ZFHX3 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1539 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Marked gene: EIF2B5 as ready
Intellectual disability syndromic and non-syndromic v0.1538 EIF2B5 Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 IGF2 Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Marked gene: KLLN as ready
Mendeliome v0.773 KLLN Zornitza Stark Added comment: Comment when marking as ready: Epigenetic modification of the promoter linked to Cowden syndrome.
Mendeliome v0.773 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Mendeliome v0.773 KLLN Zornitza Stark Publications for gene: KLLN were set to
Mendeliome v0.772 KLLN Zornitza Stark Classified gene: KLLN as Red List (low evidence)
Mendeliome v0.772 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Marked gene: KLLN as ready
Intellectual disability syndromic and non-syndromic v0.1538 KLLN Zornitza Stark Gene: klln has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Marked gene: LSM1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 LSM1 Zornitza Stark Gene: lsm1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Marked gene: MACROD2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MACROD2 Zornitza Stark Gene: macrod2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Marked gene: SPTBN2 as ready
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Gene: sptbn2 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.3 SPTBN2 Bryony Thompson Phenotypes for gene: SPTBN2 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar ataxia 5; Spinocerebellar ataxia 5, 600224; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; Autosomal recessive spinocerebellar ataxia 14, 615386 to Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386
Ectodermal Dysplasia v0.0 KREMEN1 Bryony Thompson gene: KREMEN1 was added
gene: KREMEN1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392
Ectodermal Dysplasia v0.0 TSPEAR Bryony Thompson gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Ectodermal Dysplasia v0.0 KRT74 Bryony Thompson gene: KRT74 was added
gene: KRT74 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KRT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT74 were set to 24714551
Phenotypes for gene: KRT74 were set to ?Ectodermal dysplasia 7, hair/nail type, 614929
Ectodermal Dysplasia v0.0 KRT85 Bryony Thompson gene: KRT85 was added
gene: KRT85 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal Dysplasia v0.0 CST6 Bryony Thompson gene: CST6 was added
gene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CST6 were set to 30425301
Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Ectodermal Dysplasia v0.0 MSX1 Bryony Thompson gene: MSX1 was added
gene: MSX1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type, 189500
Ectodermal Dysplasia v0.0 KDF1 Bryony Thompson gene: KDF1 was added
gene: KDF1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDF1 were set to 30977908; 27838789; 24075906
Phenotypes for gene: KDF1 were set to ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal Dysplasia v0.0 WNT10A Bryony Thompson gene: WNT10A was added
gene: WNT10A was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
Ectodermal Dysplasia v0.0 WDR35 Bryony Thompson gene: WDR35 was added
gene: WDR35 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Ectodermal Dysplasia v0.0 TP63 Bryony Thompson gene: TP63 was added
gene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Ectodermal Dysplasia v0.0 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Ectodermal Dysplasia v0.0 NECTIN4 Bryony Thompson gene: NECTIN4 was added
gene: NECTIN4 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1
Ectodermal Dysplasia v0.0 PRKD1 Bryony Thompson gene: PRKD1 was added
gene: PRKD1 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Congenital heart defects and ectodermal dysplasia
Ectodermal Dysplasia v0.0 PORCN Bryony Thompson gene: PORCN was added
gene: PORCN was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia
Ectodermal Dysplasia v0.0 PAX9 Bryony Thompson gene: PAX9 was added
gene: PAX9 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to Tooth agenesis, selective, 3
Ectodermal Dysplasia v0.0 MPLKIP Bryony Thompson gene: MPLKIP was added
gene: MPLKIP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive
Ectodermal Dysplasia v0.0 LRP6 Bryony Thompson gene: LRP6 was added
gene: LRP6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7
Ectodermal Dysplasia v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia, Naxos disease
Ectodermal Dysplasia v0.0 IFT122 Bryony Thompson gene: IFT122 was added
gene: IFT122 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
Ectodermal Dysplasia v0.0 HR Bryony Thompson gene: HR was added
gene: HR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HR were set to Hypotrichosis 4, Atrichia with papular lesions, Alopecia universalis congenita
Ectodermal Dysplasia v0.0 HOXC13 Bryony Thompson gene: HOXC13 was added
gene: HOXC13 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9
Ectodermal Dysplasia v0.0 GJB6 Bryony Thompson gene: GJB6 was added
gene: GJB6 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB6 were set to Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Ectodermal Dysplasia v0.0 GJB2 Bryony Thompson gene: GJB2 was added
gene: GJB2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Ectodermal Dysplasia v0.0 EVC2 Bryony Thompson gene: EVC2 was added
gene: EVC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, Weyers acrodental dysostosis
Ectodermal Dysplasia v0.0 EVC Bryony Thompson gene: EVC was added
gene: EVC was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EVC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Weyers acrofacial dysostosis, Ellis-van Creveld syndrome
Ectodermal Dysplasia v0.0 ERCC2 Bryony Thompson gene: ERCC2 was added
gene: ERCC2 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2
Ectodermal Dysplasia v0.0 EDARADD Bryony Thompson gene: EDARADD was added
gene: EDARADD was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal Dysplasia v0.0 EDAR Bryony Thompson gene: EDAR was added
gene: EDAR was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology
Ectodermal Dysplasia v0.0 EDA Bryony Thompson gene: EDA was added
gene: EDA was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Ectodermal Dysplasia v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Ectodermal Dysplasia v0.0 CDH3 Bryony Thompson gene: CDH3 was added
gene: CDH3 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia v0.0 BCS1L Bryony Thompson gene: BCS1L was added
gene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1
Ectodermal Dysplasia v0.0 Bryony Thompson Added panel Ectodermal Dysplasia_RMH
Gastrointestinal neuromuscular disease v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy
Gastrointestinal neuromuscular disease v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX10 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 SGO1 Bryony Thompson gene: SGO1 was added
gene: SGO1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201
Gastrointestinal neuromuscular disease v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RET were set to {Hirschsprung disease, susceptibility to, 1}, 142623
Gastrointestinal neuromuscular disease v0.0 RAD21 Bryony Thompson gene: RAD21 was added
gene: RAD21 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD21 were set to Mungan syndrome: Barrett esophagus, megaduodenum, cardiac abnormalities
Gastrointestinal neuromuscular disease v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
Gastrointestinal neuromuscular disease v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYLK were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210
Gastrointestinal neuromuscular disease v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31044419; 31427716; 25407000
Phenotypes for gene: MYH11 were set to Patent ductus arteriosus in 1 individual; Aortic aneurysm, familial thoracic 4, 132900
Gastrointestinal neuromuscular disease v0.0 LMOD1 Bryony Thompson gene: LMOD1 was added
gene: LMOD1 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD1 were set to 28292896
Phenotypes for gene: LMOD1 were set to Megacystis microcolon intestinal hypoperistalsis syndrome
Gastrointestinal neuromuscular disease v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Periventricular heterotopia in males, seizures in females
Gastrointestinal neuromuscular disease v0.0 EDNRB Bryony Thompson gene: EDNRB was added
gene: EDNRB was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDNRB were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 EDN3 Bryony Thompson gene: EDN3 was added
gene: EDN3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EDN3 were set to Waardenburg syndrome w/pigmentary abnormalities
Gastrointestinal neuromuscular disease v0.0 CHRM3 Bryony Thompson gene: CHRM3 was added
gene: CHRM3 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRM3 were set to Posterior urethral valves & prune belly syndrome
Gastrointestinal neuromuscular disease v0.0 ACTG2 Bryony Thompson gene: ACTG2 was added
gene: ACTG2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG2 were set to Visceral myopathy, 155310
Gastrointestinal neuromuscular disease v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Visceral Myopathy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis
Gastrointestinal neuromuscular disease v0.0 Bryony Thompson Added panel Visceral Myopathy_RMH
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Marked gene: MET as ready
Intellectual disability syndromic and non-syndromic v0.1538 MET Zornitza Stark Gene: met has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MFN2 Zornitza Stark Gene: mfn2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGME1 Zornitza Stark Gene: mgme1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Marked gene: MGP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MGP Zornitza Stark Gene: mgp has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Marked gene: MID2 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MID2 Zornitza Stark Gene: mid2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Intellectual disability syndromic and non-syndromic v0.1538 MNX1 Zornitza Stark Gene: mnx1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Marked gene: MPZ as ready
Intellectual disability syndromic and non-syndromic v0.1538 MPZ Zornitza Stark Gene: mpz has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Marked gene: MRAP as ready
Intellectual disability syndromic and non-syndromic v0.1538 MRAP Zornitza Stark Gene: mrap has been classified as Red List (Low Evidence).
Usher Syndrome v0.0 WHRN Bryony Thompson gene: WHRN was added
gene: WHRN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383
Usher Syndrome v0.0 USH2A Bryony Thompson gene: USH2A was added
gene: USH2A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809
Usher Syndrome v0.0 USH1G Bryony Thompson gene: USH1G was added
gene: USH1G was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943
Usher Syndrome v0.0 USH1C Bryony Thompson gene: USH1C was added
gene: USH1C was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904
Usher Syndrome v0.0 PEX6 Bryony Thompson gene: PEX6 was added
gene: PEX6 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Heimler syndrome 2, 616617
Usher Syndrome v0.0 PEX1 Bryony Thompson gene: PEX1 was added
gene: PEX1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580
Usher Syndrome v0.0 PDZD7 Bryony Thompson gene: PDZD7 was added
gene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Usher Syndrome v0.0 PCDH15 Bryony Thompson gene: PCDH15 was added
gene: PCDH15 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome Type 1F; Usher syndrome, type 1D/F digenic
Usher Syndrome v0.0 MYO7A Bryony Thompson gene: MYO7A was added
gene: MYO7A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900
Usher Syndrome v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Usher Syndrome v0.0 ESPN Bryony Thompson gene: ESPN was added
gene: ESPN was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESPN were set to ?Usher syndrome, type 1M, 618632; Deafness, autosomal recessive 36, 609006
Usher Syndrome v0.0 CLRN1 Bryony Thompson gene: CLRN1 was added
gene: CLRN1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180
Usher Syndrome v0.0 CIB2 Bryony Thompson gene: CIB2 was added
gene: CIB2 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869
Usher Syndrome v0.0 CEP78 Bryony Thompson gene: CEP78 was added
gene: CEP78 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-Rod Dystrophy and Hearing Loss, 617236
Usher Syndrome v0.0 CEP250 Bryony Thompson gene: CEP250 was added
gene: CEP250 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP250 were set to Usher-like disease; Cone-rod dystrophy and hearing loss 2, 618358
Usher Syndrome v0.0 CDH23 Bryony Thompson gene: CDH23 was added
gene: CDH23 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D 601067; Usher syndrome, type 1D/F digenic 601067
Usher Syndrome v0.0 ARSG Bryony Thompson gene: ARSG was added
gene: ARSG was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144
Usher Syndrome v0.0 ADGRV1 Bryony Thompson gene: ADGRV1 was added
gene: ADGRV1 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Usher Syndrome v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857; Usher syndrome type 3
Usher Syndrome v0.0 Bryony Thompson Added panel Usher Syndrome_RMH
Rhabdomyolysis and Metabolic Myopathy v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505
Rhabdomyolysis and Metabolic Myopathy v0.0 TSEN54 Bryony Thompson gene: TSEN54 was added
gene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470
Rhabdomyolysis and Metabolic Myopathy v0.0 TK2 Bryony Thompson gene: TK2 was added
gene: TK2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Rhabdomyolysis and Metabolic Myopathy v0.0 TANGO2 Bryony Thompson gene: TANGO2 was added
gene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Rhabdomyolysis and Metabolic Myopathy v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Rhabdomyolysis and Metabolic Myopathy v0.0 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140
Rhabdomyolysis and Metabolic Myopathy v0.0 SIL1 Bryony Thompson gene: SIL1 was added
gene: SIL1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800
Rhabdomyolysis and Metabolic Myopathy v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Paramyotonia congenita, 168300; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Myasthenic syndrome, congenital, 16, 614198; Hyperkalemic periodic paralysis, type 2, 170500
Rhabdomyolysis and Metabolic Myopathy v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, 145600; Central core disease, 117000; King-Denborough syndrome, 145600; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Minicore myopathy with external ophthalmoplegia, 255320
Rhabdomyolysis and Metabolic Myopathy v0.0 RRM2B Bryony Thompson gene: RRM2B was added
gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Rhabdomyolysis and Metabolic Myopathy v0.0 RBCK1 Bryony Thompson gene: RBCK1 was added
gene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Rhabdomyolysis and Metabolic Myopathy v0.0 PYGM Bryony Thompson gene: PYGM was added
gene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR
Rhabdomyolysis and Metabolic Myopathy v0.0 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Rhabdomyolysis and Metabolic Myopathy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Progressive external ophthalmoplegia, autosomal recessive 1 258450
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKB Bryony Thompson gene: PHKB was added
gene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Rhabdomyolysis and Metabolic Myopathy v0.0 PHKA1 Bryony Thompson gene: PHKA1 was added
gene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559
Rhabdomyolysis and Metabolic Myopathy v0.0 PGM1 Bryony Thompson gene: PGM1 was added
gene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921
Rhabdomyolysis and Metabolic Myopathy v0.0 PGK1 Bryony Thompson gene: PGK1 was added
gene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653
Rhabdomyolysis and Metabolic Myopathy v0.0 PGAM2 Bryony Thompson gene: PGAM2 was added
gene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670
Rhabdomyolysis and Metabolic Myopathy v0.0 PFKM Bryony Thompson gene: PFKM was added
gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800
Rhabdomyolysis and Metabolic Myopathy v0.0 LPIN1 Bryony Thompson gene: LPIN1 was added
gene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200
Rhabdomyolysis and Metabolic Myopathy v0.0 LDHA Bryony Thompson gene: LDHA was added
gene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933
Rhabdomyolysis and Metabolic Myopathy v0.0 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: LAMP2 were set to Danon disease 300257
Rhabdomyolysis and Metabolic Myopathy v0.0 ISCU Bryony Thompson gene: ISCU was added
gene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Rhabdomyolysis and Metabolic Myopathy v0.0 GYS1 Bryony Thompson gene: GYS1 was added
gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556
Rhabdomyolysis and Metabolic Myopathy v0.0 GYG1 Bryony Thompson gene: GYG1 was added
gene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Rhabdomyolysis and Metabolic Myopathy v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500
Rhabdomyolysis and Metabolic Myopathy v0.0 GAA Bryony Thompson gene: GAA was added
gene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II 232300
Rhabdomyolysis and Metabolic Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama congenital muscular dystrophy
Rhabdomyolysis and Metabolic Myopathy v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680
Rhabdomyolysis and Metabolic Myopathy v0.0 ENO3 Bryony Thompson gene: ENO3 was added
gene: ENO3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII 612932
Rhabdomyolysis and Metabolic Myopathy v0.0 DYSF Bryony Thompson gene: DYSF was added
gene: DYSF was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130
Rhabdomyolysis and Metabolic Myopathy v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Becker muscular dystrophy 300376
Rhabdomyolysis and Metabolic Myopathy v0.0 CYP2C8 Bryony Thompson gene: CYP2C8 was added
gene: CYP2C8 was added to Rhabdomyolysis_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: CYP2C8 was set to Unknown
Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced
Rhabdomyolysis and Metabolic Myopathy v0.0 CPT2 Bryony Thompson gene: CPT2 was added
gene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Rhabdomyolysis and Metabolic Myopathy v0.0 CAV3 Bryony Thompson gene: CAV3 was added
gene: CAV3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC 607801; Rippling muscle disease 606072; Myopathy, distal, Tateyama type 614321
Rhabdomyolysis and Metabolic Myopathy v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887
Rhabdomyolysis and Metabolic Myopathy v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307
Rhabdomyolysis and Metabolic Myopathy v0.0 AMPD1 Bryony Thompson gene: AMPD1 was added
gene: AMPD1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency 615511; Rhabdomyolysis
Rhabdomyolysis and Metabolic Myopathy v0.0 ALDOA Bryony Thompson gene: ALDOA was added
gene: ALDOA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881
Rhabdomyolysis and Metabolic Myopathy v0.0 AGL Bryony Thompson gene: AGL was added
gene: AGL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400
Rhabdomyolysis and Metabolic Myopathy v0.0 ACADVL Bryony Thompson gene: ACADVL was added
gene: ACADVL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Rhabdomyolysis and Metabolic Myopathy v0.0 ACADM Bryony Thompson gene: ACADM was added
gene: ACADM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450; Rhabdomyolysis
Rhabdomyolysis and Metabolic Myopathy v0.0 ACAD9 Bryony Thompson gene: ACAD9 was added
gene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Rhabdomyolysis and Metabolic Myopathy v0.0 Bryony Thompson Added panel Rhabdomyolysis_RMH
Proteinuria v0.98 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Proteinuria v0.98 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.98 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Proteinuria v0.98 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Marked gene: ANLN as ready
Proteinuria v0.98 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.97 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.96 ANLN Zornitza Stark Publications for gene: ANLN were set to
Proteinuria v0.95 ANLN Zornitza Stark Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.94 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Proteinuria v0.94 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.94 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.93 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.92 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Proteinuria v0.91 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v0.0 VAMP1 Bryony Thompson gene: VAMP1 was added
gene: VAMP1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAMP1 were set to presynaptic CMS; Congenital myasthenic syndrome
Congenital Myasthenia v0.0 UNC13A Bryony Thompson gene: UNC13A was added
gene: UNC13A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: UNC13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 19558619; 27648472
Phenotypes for gene: UNC13A were set to microcephaly, cortical hyperexcitability, and fatal myasthenia
Congenital Myasthenia v0.0 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic, 616040
Congenital Myasthenia v0.0 SNAP25 Bryony Thompson gene: SNAP25 was added
gene: SNAP25 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330
Congenital Myasthenia v0.0 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143; Hereditory motor neuropathy
Congenital Myasthenia v0.0 SLC25A1 Bryony Thompson gene: SLC25A1 was added
gene: SLC25A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic; 618197
Congenital Myasthenia v0.0 SLC18A3 Bryony Thompson gene: SLC18A3 was added
gene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239
Congenital Myasthenia v0.0 SCN4A Bryony Thompson gene: SCN4A was added
gene: SCN4A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN4A were set to Myasthenic syndrome, congenital, 16, 614198
Congenital Myasthenia v0.0 RPH3A Bryony Thompson gene: RPH3A was added
gene: RPH3A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPH3A were set to 29441694
Phenotypes for gene: RPH3A were set to Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
Congenital Myasthenia v0.0 RAPSN Bryony Thompson gene: RAPSN was added
gene: RAPSN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset
Congenital Myasthenia v0.0 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PREPL were set to congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency; ?Myasthenic syndrome, congenital, 22, 616224
Congenital Myasthenia v0.0 MYO9A Bryony Thompson gene: MYO9A was added
gene: MYO9A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO9A were set to congenital myasthenic syndrome 24, presynaptic 618198
Congenital Myasthenia v0.0 MUSK Bryony Thompson gene: MUSK was added
gene: MUSK was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
Congenital Myasthenia v0.0 LRP4 Bryony Thompson gene: LRP4 was added
gene: LRP4 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Myasthenic syndrome, congenital, 17, 616304
Congenital Myasthenia v0.0 LAMB2 Bryony Thompson gene: LAMB2 was added
gene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
Congenital Myasthenia v0.0 LAMA5 Bryony Thompson gene: LAMA5 was added
gene: LAMA5 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 28544784
Phenotypes for gene: LAMA5 were set to muscle weakness, myopia, and facial tics
Congenital Myasthenia v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Congenital Myasthenia v0.0 GFPT1 Bryony Thompson gene: GFPT1 was added
gene: GFPT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome
Congenital Myasthenia v0.0 DPAGT1 Bryony Thompson gene: DPAGT1 was added
gene: DPAGT1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; Congenital disorder of glycosylation, type Ij, 608093
Congenital Myasthenia v0.0 DOK7 Bryony Thompson gene: DOK7 was added
gene: DOK7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial
Congenital Myasthenia v0.0 COLQ Bryony Thompson gene: COLQ was added
gene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
Congenital Myasthenia v0.0 COL13A1 Bryony Thompson gene: COL13A1 was added
gene: COL13A1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, 616720
Congenital Myasthenia v0.0 CHRNG Bryony Thompson gene: CHRNG was added
gene: CHRNG was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient
Congenital Myasthenia v0.0 CHRNE Bryony Thompson gene: CHRNE was added
gene: CHRNE was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809
Congenital Myasthenia v0.0 CHRND Bryony Thompson gene: CHRND was added
gene: CHRND was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322; Myasthenic syndrome, slow-channel congenital, 601462; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
Congenital Myasthenia v0.0 CHRNB1 Bryony Thompson gene: CHRNB1 was added
gene: CHRNB1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Congenital Myasthenia v0.0 CHRNA1 Bryony Thompson gene: CHRNA1 was added
gene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462
Congenital Myasthenia v0.0 CHAT Bryony Thompson gene: CHAT was added
gene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210
Congenital Myasthenia v0.0 ALG2 Bryony Thompson gene: ALG2 was added
gene: ALG2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation CDG type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Congenital Myasthenia v0.0 ALG14 Bryony Thompson gene: ALG14 was added
gene: ALG14 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Congenital Myasthenia v0.0 AGRN Bryony Thompson gene: AGRN was added
gene: AGRN was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Congenital Myasthenia v0.0 Bryony Thompson Added panel Congenital Myaesthenic Syndrome_RMH
Heterotaxy v0.3 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Heterotaxy v0.3 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Heterotaxy v0.3 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Heterotaxy v0.2 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Heterotaxy v0.1 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliary Dyskinesia v0.5 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from to Ciliary dyskinesia, primary, 22, MIM#615444
Ciliary Dyskinesia v0.4 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Ciliary Dyskinesia v0.3 ZMYND10 Zornitza Stark Mode of inheritance for gene: ZMYND10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Haem degradation and bilirubin metabolism defects v0.0 UROS Bryony Thompson gene: UROS was added
gene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700
Haem degradation and bilirubin metabolism defects v0.0 UROD Bryony Thompson gene: UROD was added
gene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Haem degradation and bilirubin metabolism defects v0.0 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PPOX were set to Porphyria variegata 176200
Haem degradation and bilirubin metabolism defects v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HMBS were set to Porphyria, acute intermittent, 176000; Porphyria, acute intermittent, nonerythroid variant, 176000
Haem degradation and bilirubin metabolism defects v0.0 HFE Bryony Thompson gene: HFE was added
gene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200
Haem degradation and bilirubin metabolism defects v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 25251786; 17148589
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria
Haem degradation and bilirubin metabolism defects v0.0 FECH Bryony Thompson gene: FECH was added
gene: FECH was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FECH were set to Protoporphyria, erythropoietic, autosomal recessive, 177000
Haem degradation and bilirubin metabolism defects v0.0 CPOX Bryony Thompson gene: CPOX was added
gene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300
Haem degradation and bilirubin metabolism defects v0.0 ALAS2 Bryony Thompson gene: ALAS2 was added
gene: ALAS2 was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ALAS2 were set to Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751
Haem degradation and bilirubin metabolism defects v0.0 ALAD Bryony Thompson gene: ALAD was added
gene: ALAD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias)
Haem degradation and bilirubin metabolism defects v0.0 Bryony Thompson Added panel Porphyria_RMH
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Marked gene: ZMYND10 as ready
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Added comment: Comment when marking as ready: More than 10 Families with hom and comp het variants and PCD
Ciliary Dyskinesia v0.2 ZMYND10 Sebastian Lunke Gene: zmynd10 has been classified as Green List (High Evidence).
Mendeliome v0.771 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.55 NR2E1 Zornitza Stark Marked gene: NR2E1 as ready
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.55 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.54 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Marked gene: OTOG as ready
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.229 OTOG Zornitza Stark Publications for gene: OTOG were set to
Deafness_IsolatedAndComplex v0.228 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B, MIM#614945
Deafness_IsolatedAndComplex v0.227 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim Deleted their review
Deafness_IsolatedAndComplex v0.226 OTOG Chern Lim reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 29800624; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to dilated cardiomyopathy; Distal myopathy; HMERF; Myofibrillar myopathy; Congenital myopathy; Muscular dystrophy, limb-girdle, type 2J, 608807; arthrogryposis
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRIM32 Bryony Thompson gene: TRIM32 was added
gene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TRAPPC11 Bryony Thompson gene: TRAPPC11 was added
gene: TRAPPC11 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TNPO3 Bryony Thompson gene: TNPO3 was added
gene: TNPO3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TNPO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TNPO3 were set to Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 TCAP Bryony Thompson gene: TCAP was added
gene: TCAP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SYNE1 Bryony Thompson gene: SYNE1 was added
gene: SYNE1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCG Bryony Thompson gene: SGCG was added
gene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCD Bryony Thompson gene: SGCD was added
gene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCB Bryony Thompson gene: SGCB was added
gene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 SGCA Bryony Thompson gene: SGCA was added
gene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PYROXD1 Bryony Thompson gene: PYROXD1 was added
gene: PYROXD1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 30515627
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT2 Bryony Thompson gene: POMT2 was added
gene: POMT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMT1 Bryony Thompson gene: POMT1 was added
gene: POMT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMK Bryony Thompson gene: POMK was added
gene: POMK was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT2 Bryony Thompson gene: POMGNT2 was added
gene: POMGNT2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POMGNT1 Bryony Thompson gene: POMGNT1 was added
gene: POMGNT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 POGLUT1 Bryony Thompson gene: POGLUT1 was added
gene: POGLUT1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 PLEC Bryony Thompson gene: PLEC was added
gene: PLEC was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Muscular dystrophy with epidermolysis bullosa simplex, 226670
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 MTM1 Bryony Thompson gene: MTM1 was added
gene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 LAMA2 Bryony Thompson gene: LAMA2 was added
gene: LAMA2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ISPD Bryony Thompson gene: ISPD was added
gene: ISPD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 HNRNPDL Bryony Thompson gene: HNRNPDL was added
gene: HNRNPDL was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, type 1G 609115
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 GMPPB Bryony Thompson gene: GMPPB was added
gene: GMPPB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKTN Bryony Thompson gene: FKTN was added
gene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Limb-girdle muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 FHL1 Bryony Thompson gene: FHL1 was added
gene: FHL1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 EMD Bryony Thompson gene: EMD was added
gene: EMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DYSF Bryony Thompson gene: DYSF was added
gene: DYSF was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Myopathy, distal, with anterior tibial onset, 606768; Miyoshi muscular dystrophy 1, 254130; Muscular dystrophy, limb-girdle, type 2B, 253601
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DNAJB6 Bryony Thompson gene: DNAJB6 was added
gene: DNAJB6 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb-girdle, type 1E, 603511
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy 310200; Becker muscular dystrophy 300376
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 DAG1 Bryony Thompson gene: DAG1 was added
gene: DAG1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A3 Bryony Thompson gene: COL6A3 was added
gene: COL6A3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A2 Bryony Thompson gene: COL6A2 was added
gene: COL6A2 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 COL6A1 Bryony Thompson gene: COL6A1 was added
gene: COL6A1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Bethlem myopathy 1 158810
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 CAPN3 Bryony Thompson gene: CAPN3 was added
gene: CAPN3 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.0 Bryony Thompson Added panel Limb Girdle Muscular Dystrophy_RMH
Hereditary Neuropathy - complex v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy - complex v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Hereditary Neuropathy - complex v0.0 MFF Bryony Thompson gene: MFF was added
gene: MFF was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus)
Hereditary Neuropathy - complex v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy - complex v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy - complex v0.0 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy - complex v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy - complex v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
Hereditary Neuropathy - complex v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy - complex v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy - complex v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATAD3A were set to Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy
Hereditary Neuropathy - complex v0.0 NGLY1 Bryony Thompson gene: NGLY1 was added
gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy - complex v0.0 SNAP29 Bryony Thompson gene: SNAP29 was added
gene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy - complex v0.0 AMACR Bryony Thompson gene: AMACR was added
gene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy - complex v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy - complex v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
Hereditary Neuropathy - complex v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALDH18A1 were set to Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities
Hereditary Neuropathy - complex v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy - complex v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy - complex v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy
Hereditary Neuropathy - complex v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Hereditary Neuropathy - complex v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy
Hereditary Neuropathy - complex v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Hereditary Neuropathy - complex v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to HMSN; Spastic paraplegia 15
Hereditary Neuropathy - complex v0.0 DNAJC3 Bryony Thompson gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
Hereditary Neuropathy - complex v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy - complex v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy - complex v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
Hereditary Neuropathy - complex v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary Neuropathy - complex v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
Hereditary Neuropathy - complex v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy - complex v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy_CMT - isolated v0.0 VAPB Bryony Thompson gene: VAPB was added
gene: VAPB was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 UBA1 Bryony Thompson gene: UBA1 was added
gene: UBA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2
Hereditary Neuropathy_CMT - isolated v0.0 TRPA1 Bryony Thompson gene: TRPA1 was added
gene: TRPA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN
Hereditary Neuropathy - complex v0.0 TRIP4 Bryony Thompson gene: TRIP4 was added
gene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1
Hereditary Neuropathy - complex v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive; HSAN/SFN
Hereditary Neuropathy - complex v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SYT2 Bryony Thompson gene: SYT2 was added
gene: SYT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYT2 were set to 25192047; 30533528; 26519543
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SH3BP4 Bryony Thompson gene: SH3BP4 was added
gene: SH3BP4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: SH3BP4 was set to
Publications for gene: SH3BP4 were set to 24627108
Phenotypes for gene: SH3BP4 were set to HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SCN10A Bryony Thompson gene: SCN10A was added
gene: SCN10A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551
Hereditary Neuropathy - complex v0.0 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like phenotype; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN
Hereditary Neuropathy - complex v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 24627108
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN
Hereditary Neuropathy - complex v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 21419568
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6
Hereditary Neuropathy_CMT - isolated v0.0 KLHL13 Bryony Thompson gene: KLHL13 was added
gene: KLHL13 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: KLHL13 was set to
Publications for gene: KLHL13 were set to 24627108
Phenotypes for gene: KLHL13 were set to HMSN
Hereditary Neuropathy - complex v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 19409521
Phenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN
Hereditary Neuropathy - complex v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy - complex v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Hereditary Neuropathy - complex v0.0 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type; HMSN
Hereditary Neuropathy - complex v0.0 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Galactosylceramide beta-galactosidase deficiency; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FLVCR1 Bryony Thompson gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 31408049; 28766925; 24628582
Phenotypes for gene: FLVCR1 were set to Posterior column ataxia with retinitis pigmentosa; HSAN/SFN
Hereditary Neuropathy - complex v0.0 EXOSC8 Bryony Thompson gene: EXOSC8 was added
gene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c
Hereditary Neuropathy - complex v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 DGAT2 Bryony Thompson gene: DGAT2 was added
gene: DGAT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2
Hereditary Neuropathy - complex v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to HMSN; Cholestanol storage disease
Hereditary Neuropathy - complex v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN
Hereditary Neuropathy - complex v0.0 CLP1 Bryony Thompson gene: CLP1 was added
gene: CLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary Neuropathy - complex v0.0 ASCC1 Bryony Thompson gene: ASCC1 was added
gene: ASCC1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2
Hereditary Neuropathy - complex v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy
Hereditary Neuropathy - complex v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease
Hereditary Neuropathy - complex v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia
Hereditary Neuropathy_CMT - isolated v0.0 TRIM2 Bryony Thompson gene: TRIM2 was added
gene: TRIM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, 615490; HMSN
Hereditary Neuropathy - complex v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary Neuropathy - complex v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant; Spasticity; Hereditary Neuropathies
Hereditary Neuropathy - complex v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SMN1 Bryony Thompson gene: SMN1 was added
gene: SMN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Hereditary Neuropathy - complex v0.0 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy - complex v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Hereditary Neuropathy_CMT - isolated v0.0 SCO2 Bryony Thompson gene: SCO2 was added
gene: SCO2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia
Hereditary Neuropathy - complex v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN
Hereditary Neuropathy - complex v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI
Hereditary Neuropathy - complex v0.0 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN
Hereditary Neuropathy - complex v0.0 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN
Hereditary Neuropathy - complex v0.0 NTRK1 Bryony Thompson gene: NTRK1 was added
gene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary Neuropathy_CMT - isolated v0.0 NAGLU Bryony Thompson gene: NAGLU was added
gene: NAGLU was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN
Hereditary Neuropathy - complex v0.0 MYH14 Bryony Thompson gene: MYH14 was added
gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN
Hereditary Neuropathy - complex v0.0 MCM3AP Bryony Thompson gene: MCM3AP was added
gene: MCM3AP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary Neuropathy_CMT - isolated v0.0 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Hereditary Neuropathy - complex v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500
Hereditary Neuropathy_CMT - isolated v0.0 KIF1B Bryony Thompson gene: KIF1B was added
gene: KIF1B was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF1B were set to Charcot Marie Tooth disease, type 2A1, 118210; HMSN
Hereditary Neuropathy - complex v0.0 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Hereditary Neuropathy - complex v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015; HMSN
Hereditary Neuropathy - complex v0.0 GJB3 Bryony Thompson gene: GJB3 was added
gene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GJB3 was set to
Phenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy
Hereditary Neuropathy - complex v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Hereditary Neuropathy - complex v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary Neuropathy - complex v0.0 DCAF8 Bryony Thompson gene: DCAF8 was added
gene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN
Hereditary Neuropathy - complex v0.0 CTDP1 Bryony Thompson gene: CTDP1 was added
gene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN
Hereditary Neuropathy - complex v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary Neuropathy - complex v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN
Hereditary Neuropathy - complex v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN
Hereditary Neuropathy - complex v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies
Hereditary Neuropathy - complex v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 YARS Bryony Thompson gene: YARS was added
gene: YARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YARS were set to Charcot Marie Tooth disease, dominant intermediate C, 608323; HMSN
Hereditary Neuropathy - complex v0.0 XK Bryony Thompson gene: XK was added
gene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary Neuropathy_CMT - isolated v0.0 WNK1 Bryony Thompson gene: WNK1 was added
gene: WNK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492
Hereditary Neuropathy_CMT - isolated v0.0 WARS Bryony Thompson gene: WARS was added
gene: WARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721
Hereditary Neuropathy_CMT - isolated v0.0 VRK1 Bryony Thompson gene: VRK1 was added
gene: VRK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; HMSN; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Charcot-Marie-Tooth disease, type 2Y
Hereditary Neuropathy - complex v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN
Hereditary Neuropathy - complex v0.0 TUBB3 Bryony Thompson gene: TUBB3 was added
gene: TUBB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; HMSN
Hereditary Neuropathy - complex v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 TRPV4 Bryony Thompson gene: TRPV4 was added
gene: TRPV4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071
Hereditary Neuropathy_CMT - isolated v0.0 TFG Bryony Thompson gene: TFG was added
gene: TFG was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; HMSN; Hereditary motor and sensory neuropathy, proximal type, 604484
Hereditary Neuropathy_CMT - isolated v0.0 SPTLC2 Bryony Thompson gene: SPTLC2 was added
gene: SPTLC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 SPTLC1 Bryony Thompson gene: SPTLC1 was added
gene: SPTLC1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC1 were set to HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Hereditary Neuropathy_CMT - isolated v0.0 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X
Hereditary Neuropathy_CMT - isolated v0.0 SLC5A7 Bryony Thompson gene: SLC5A7 was added
gene: SLC5A7 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA
Hereditary Neuropathy_CMT - isolated v0.0 SLC25A46 Bryony Thompson gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505; HMSN
Hereditary Neuropathy - complex v0.0 SLC12A6 Bryony Thompson gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SIGMAR1 Bryony Thompson gene: SIGMAR1 was added
gene: SIGMAR1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 SH3TC2 Bryony Thompson gene: SH3TC2 was added
gene: SH3TC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353
Hereditary Neuropathy - complex v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy_CMT - isolated v0.0 SEPT9 Bryony Thompson gene: SEPT9 was added
gene: SEPT9 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 SCN9A Bryony Thompson gene: SCN9A was added
gene: SCN9A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythermalgia, primary; Hereditary sensory and autonomic neuropathy type IID; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 SCN11A Bryony Thompson gene: SCN11A was added
gene: SCN11A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN11A were set to Episodic pain syndrome, familial, 3, 615552; HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type VII, 615548
Hereditary Neuropathy_CMT - isolated v0.0 SBF2 Bryony Thompson gene: SBF2 was added
gene: SBF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, 604563
Hereditary Neuropathy_CMT - isolated v0.0 SBF1 Bryony Thompson gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3, 615284; HMSN
Hereditary Neuropathy - complex v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 RETREG1 Bryony Thompson gene: RETREG1 was added
gene: RETREG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 REEP1 Bryony Thompson gene: REEP1 was added
gene: REEP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REEP1 were set to Cardiomyopathy; ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant 610250; HMSN, dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 RAB7A Bryony Thompson gene: RAB7A was added
gene: RAB7A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAB7A were set to HMSN, HSAN/SFN; Charcot-Marie-Tooth disease, type 2B, 600882
Hereditary Neuropathy_CMT - isolated v0.0 PRX Bryony Thompson gene: PRX was added
gene: PRX was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 PRPS1 Bryony Thompson gene: PRPS1 was added
gene: PRPS1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN
Hereditary Neuropathy - complex v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Prion diseases
Hereditary Neuropathy_CMT - isolated v0.0 PRDM12 Bryony Thompson gene: PRDM12 was added
gene: PRDM12 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to hereditary sensory & autonomic neuropathy type VIII; HSAN/SFN
Hereditary Neuropathy - complex v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN
Hereditary Neuropathy_CMT - isolated v0.0 PMP22 Bryony Thompson gene: PMP22 was added
gene: PMP22 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 PMP2 Bryony Thompson gene: PMP2 was added
gene: PMP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PMP2 were set to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Hereditary Neuropathy_CMT - isolated v0.0 PLEKHG5 Bryony Thompson gene: PLEKHG5 was added
gene: PLEKHG5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEKHG5 were set to HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Hereditary Neuropathy - complex v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy - complex v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy - complex v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 NGF Bryony Thompson gene: NGF was added
gene: NGF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, 608654
Hereditary Neuropathy_CMT - isolated v0.0 NEFL Bryony Thompson gene: NEFL was added
gene: NEFL was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734
Hereditary Neuropathy_CMT - isolated v0.0 NEFH Bryony Thompson gene: NEFH was added
gene: NEFH was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 NDRG1 Bryony Thompson gene: NDRG1 was added
gene: NDRG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455
Hereditary Neuropathy_CMT - isolated v0.0 MTMR2 Bryony Thompson gene: MTMR2 was added
gene: MTMR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 MPV17 Bryony Thompson gene: MPV17 was added
gene: MPV17 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE
Hereditary Neuropathy_CMT - isolated v0.0 MORC2 Bryony Thompson gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 MME Bryony Thompson gene: MME was added
gene: MME was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MME was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MME were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2T, 617017
Hereditary Neuropathy_CMT - isolated v0.0 MFN2 Bryony Thompson gene: MFN2 was added
gene: MFN2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Hereditary motor and sensory neuropathy VI, 601152; Charcot Marie Tooth disease, type 2A2, 609260; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot Marie Toothe disease, axonal, type 2P, 614436; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Malouf syndrome, 212112; Heart hand syndrome, Slovenian type, 610140; Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001; Hutchinson Gilford progeria, 176670; Charcot Marie Tooth disease, type 2B1, 605588; Lipodystrophy, familial partial, 2, 151660; Mandibuloacral dysplasia, 248370; Cardiomyopathy, dilated, 1A, 115200; Emery Dreifuss muscular dystrophy 3, AR, 181350; Restrictive dermopathy, lethal, 275210; Emery Dreifuss muscular dystrophy 2, AD, 181350; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 LITAF Bryony Thompson gene: LITAF was added
gene: LITAF was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LITAF were set to HMSN; Charcot Marie Tooth disease, type 1C, 601098
Hereditary Neuropathy_CMT - isolated v0.0 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant; Hereditary Neuropathies; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213
Hereditary Neuropathy_CMT - isolated v0.0 INF2 Bryony Thompson gene: INF2 was added
gene: INF2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 IGHMBP2 Bryony Thompson gene: IGHMBP2 was added
gene: IGHMBP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320
Hereditary Neuropathy_CMT - isolated v0.0 HSPB8 Bryony Thompson gene: HSPB8 was added
gene: HSPB8 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPB8 were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIA, 158590; Charcot Marie Tooth disease, axonal, type 2L, 608673
Hereditary Neuropathy_CMT - isolated v0.0 HSPB3 Bryony Thompson gene: HSPB3 was added
gene: HSPB3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPB3 were set to HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376
Hereditary Neuropathy_CMT - isolated v0.0 HSPB1 Bryony Thompson gene: HSPB1 was added
gene: HSPB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HSPB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HSPB1 were set to Charcot Marie Tooth disease, axonal, type 2F, 606595; HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type IIB, 608634
Hereditary Neuropathy_CMT - isolated v0.0 HK1 Bryony Thompson gene: HK1 was added
gene: HK1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to HMSN; Hemolytic anemia due to hexokinase deficiency, 235700; Neuropathy, hereditary motor and sensory, Russe type, 605285
Hereditary Neuropathy_CMT - isolated v0.0 HINT1 Bryony Thompson gene: HINT1 was added
gene: HINT1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia
Hereditary Neuropathy_CMT - isolated v0.0 HARS Bryony Thompson gene: HARS was added
gene: HARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HARS were set to Charcot-Marie-Tooth disease, axonal, type 2w; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 GNB4 Bryony Thompson gene: GNB4 was added
gene: GNB4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185; HMSN
Hereditary Neuropathy - complex v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease
Hereditary Neuropathy_CMT - isolated v0.0 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GJB1 were set to Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 GDAP1 Bryony Thompson gene: GDAP1 was added
gene: GDAP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot Marie Tooth disease, axonal, type 2K, 607831; HMSN; Charcot Marie Tooth disease, type 4A, 214400; Charcot Marie Tooth disease, recessive intermediate, A, 608340
Hereditary Neuropathy_CMT - isolated v0.0 GARS Bryony Thompson gene: GARS was added
gene: GARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472
Hereditary Neuropathy - complex v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1
Hereditary Neuropathy_CMT - isolated v0.0 FIG4 Bryony Thompson gene: FIG4 was added
gene: FIG4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FGD4 Bryony Thompson gene: FGD4 was added
gene: FGD4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot Marie Tooth disease, type 4H, 609311; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 FBXO38 Bryony Thompson gene: FBXO38 was added
gene: FBXO38 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy_CMT - isolated v0.0 ELP1 Bryony Thompson gene: ELP1 was added
gene: ELP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 EGR2 Bryony Thompson gene: EGR2 was added
gene: EGR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EGR2 were set to HMSN; Charcot Marie Tooth disease, type 1D, 607678
Hereditary Neuropathy_CMT - isolated v0.0 DYNC1H1 Bryony Thompson gene: DYNC1H1 was added
gene: DYNC1H1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228
Hereditary Neuropathy_CMT - isolated v0.0 DST Bryony Thompson gene: DST was added
gene: DST was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 DRP2 Bryony Thompson gene: DRP2 was added
gene: DRP2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 22764250; 26227883; 31217940
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 DNMT1 Bryony Thompson gene: DNMT1 was added
gene: DNMT1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNMT1 were set to Neuropathy, hereditary sensory, type IE, 614116; Dementia, Deafness, and Sensory Neuropathy; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 DNM2 Bryony Thompson gene: DNM2 was added
gene: DNM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM2 were set to HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482
Hereditary Neuropathy_CMT - isolated v0.0 DNAJB2 Bryony Thompson gene: DNAJB2 was added
gene: DNAJB2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJB2 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, distal, autosomal recessive, 5, MIM#614881
Hereditary Neuropathy_CMT - isolated v0.0 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHTKD1 were set to HMSN; Charcot Marie Tooth disease, axonal, type 2Q, 615025; 2 aminoadipic 2 oxoadipic aciduria, 204750
Hereditary Neuropathy_CMT - isolated v0.0 DCTN1 Bryony Thompson gene: DCTN1 was added
gene: DCTN1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DCTN1 were set to HMSN, dHMN/dSMA; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641
Hereditary Neuropathy_CMT - isolated v0.0 COX6A1 Bryony Thompson gene: COX6A1 was added
gene: COX6A1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; HMSN
Hereditary Neuropathy - complex v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
Hereditary Neuropathy_CMT - isolated v0.0 CHCHD10 Bryony Thompson gene: CHCHD10 was added
gene: CHCHD10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685
Hereditary Neuropathy_CMT - isolated v0.0 BICD2 Bryony Thompson gene: BICD2 was added
gene: BICD2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3; dHMN/dSMA
Hereditary Neuropathy_CMT - isolated v0.0 ATP1A1 Bryony Thompson gene: ATP1A1 was added
gene: ATP1A1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Hereditary Neuropathy_CMT - isolated v0.0 ATL3 Bryony Thompson gene: ATL3 was added
gene: ATL3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN
Hereditary Neuropathy_CMT - isolated v0.0 ATL1 Bryony Thompson gene: ATL1 was added
gene: ATL1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID, 613708
Hereditary Neuropathy_CMT - isolated v0.0 ARHGEF10 Bryony Thompson gene: ARHGEF10 was added
gene: ARHGEF10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364
Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN
Hereditary Neuropathy - complex v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN
Hereditary Neuropathy_CMT - isolated v0.0 AARS Bryony Thompson gene: AARS was added
gene: AARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA
Hereditary Neuropathy - complex v0.0 Bryony Thompson Added panel Hereditary Neuropathy - complex_RMH
Hereditary Neuropathy_CMT - isolated v0.0 Bryony Thompson Added panel Hereditary Neuropathy - isolated_RMH
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v0.48 Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen
Hereditary Spastic Paraplegia - paediatric v0.4 KLC2 Bryony Thompson Tag SV/CNV tag was added to gene: KLC2.
Immunological disorders_SuperPanel v0.101 Zornitza Stark Changed child panels to: Combined immunodeficiency_MelbourneGenomics_VCGS; Disorders of immune dysregulation_MelbourneGenomics_VCGS; Predominantly antibody deficiency_MelbourneGenomics_VCGS; Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS; Susceptibility to viral infections_MelbourneGenomics_VCGS; Neutrophil defects_MelbourneGenomics_VCGS; Complement deficiencies_MelbourneGenomics_VCGS; Phagocyte defects_MelbourneGenomics_VCGS; Common Variable Immunodeficiency_MelbourneGenomics_VCGS; Defects of innate immunity_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS; Susceptibility to fungal infections_MelbourneGenomics_VCGS; Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_VCGS; Mendelian susceptibility to Immune Disorders_MelbourneGenomics_VCGS; Hyper-IgE syndrome_MelbourneGenomics_VCGS; Hereditary angioedema_MelbourneGenomics_VCGS; Inflammatory bowel disease_VCGS
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Marked gene: RIPK1 as ready
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Classified gene: RIPK1 as Green List (high evidence)
Disorders of immune dysregulation v0.20 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.19 RIPK1 Zornitza Stark gene: RIPK1 was added
gene: RIPK1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: RIPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK1 were set to 30026316
Phenotypes for gene: RIPK1 were set to Immunodeficiency 57, MIM#618108
Review for gene: RIPK1 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Marked gene: RASGRP1 as ready
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Classified gene: RASGRP1 as Green List (high evidence)
Disorders of immune dysregulation v0.18 RASGRP1 Zornitza Stark Gene: rasgrp1 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.17 RASGRP1 Zornitza Stark gene: RASGRP1 was added
gene: RASGRP1 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP1 were set to 29155103; 28822832; 17675473; 27776107; 29282224
Phenotypes for gene: RASGRP1 were set to Immunodeficiency 64, MIM#618534
Review for gene: RASGRP1 was set to GREEN
Added comment: At least four families reported; mouse model.
Sources: Expert list
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Predominantly Antibody Deficiency v0.9 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.8 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 29455859
Phenotypes for gene: OAS1 were set to infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia
Review for gene: OAS1 was set to GREEN
Added comment: Five individuals from three unrelated families including 3 sibs where the variant was present at mosaic level in one parent.
Sources: Literature
Congenital Heart Defect v0.4 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Congenital Heart Defect v0.4 MEF2C Zornitza Stark Gene: mef2c has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.4 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Congenital Heart Defect_VCGS. Sources: Expert list
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEF2C were set to 29104469; 22498567; 26811383
Phenotypes for gene: MEF2C were set to Congenital heart disease
Review for gene: MEF2C was set to RED
Added comment: Two families described and an animal model. This is very low level of evidence considering the prevalence of CHD.
Sources: Expert list
Congenital Heart Defect v0.3 IRX4 Zornitza Stark Marked gene: IRX4 as ready
Congenital Heart Defect v0.3 IRX4 Zornitza Stark Gene: irx4 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.3 IRX4 Zornitza Stark gene: IRX4 was added
gene: IRX4 was added to Congenital Heart Defect_VCGS. Sources: Expert list
Mode of inheritance for gene: IRX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRX4 were set to 21544582
Phenotypes for gene: IRX4 were set to Ventricular septal defect
Review for gene: IRX4 was set to RED
Added comment: Two individuals with novel missense variants identified in a large cohort in 2011.
Sources: Expert list
Ciliopathies v0.60 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.60 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Ciliopathies v0.60 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.59 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family plus functional data.
Sources: Expert list
Ciliopathies v0.58 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.58 C8orf37 Zornitza Stark Classified gene: C8orf37 as Green List (high evidence)
Ciliopathies v0.58 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Green List (High Evidence).
Ciliopathies v0.57 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863; 22177090; 25113443; 26865426; 25802487
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500
Review for gene: C8orf37 was set to GREEN
Added comment: Two individuals reported with BBS phenotype; at least 7 families with retinal ciliopathy (RP, cone-rod dystrophy)
Sources: Expert list
Ciliopathies v0.56 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.56 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Ciliopathies v0.56 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.55 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Ciliopathies v0.54 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Ciliopathies v0.54 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Ciliopathies v0.54 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Ciliopathies v0.53 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.52 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Ciliopathies v0.52 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.52 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Ciliopathies v0.51 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Ciliopathies v0.50 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.49 WDPCP Zornitza Stark Classified gene: WDPCP as Amber List (moderate evidence)
Ciliopathies v0.49 WDPCP Zornitza Stark Gene: wdpcp has been classified as Amber List (Moderate Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.48 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Ciliopathies v0.48 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Ciliopathies v0.47 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Ciliopathies_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Bardet Biedl syndrome v0.17 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Bardet Biedl syndrome v0.16 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Bardet Biedl syndrome v0.15 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Classified gene: WDPCP as Red List (low evidence)
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.13 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.12 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.10 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well.
Sources: Expert list
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.8 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Microcephaly v0.69 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Genetic Epilepsy v0.180 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families and functional data.
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1538 AGMO Zornitza Stark Publications for gene: AGMO were set to 31555905
Mendeliome v0.770 MDH1 Zornitza Stark Marked gene: MDH1 as ready
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.770 MDH1 Zornitza Stark Classified gene: MDH1 as Amber List (moderate evidence)
Mendeliome v0.770 MDH1 Zornitza Stark Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.769 MDH1 Zornitza Stark gene: MDH1 was added
gene: MDH1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Review for gene: MDH1 was set to AMBER
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID; some functional data.
Sources: Literature
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Hydrocephalus_Ventriculomegaly v0.10 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus_Ventriculomegaly v0.9 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.768 ISLR2 Zornitza Stark Marked gene: ISLR2 as ready
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.768 ISLR2 Zornitza Stark Classified gene: ISLR2 as Amber List (moderate evidence)
Mendeliome v0.768 ISLR2 Zornitza Stark Gene: islr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.767 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Review for gene: ISLR2 was set to AMBER
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.766 AGMO Sue White Marked gene: AGMO as ready
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.766 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Mendeliome v0.766 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Mendeliome v0.765 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic LOF and missense reported
Sources: Literature
Microcephaly v0.68 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Microcephaly v0.68 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Microcephaly v0.67 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Microcephaly v0.67 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Microcephaly v0.66 AGMO Sue White Marked gene: AGMO as ready
Microcephaly v0.66 AGMO Sue White Gene: agmo has been classified as Red List (Low Evidence).
Microcephaly v0.66 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Microcephaly_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic LOF and missense variants reported
Sources: Literature
Genetic Epilepsy v0.179 AGMO Sue White Marked gene: AGMO as ready
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.179 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Genetic Epilepsy v0.179 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Genetic Epilepsy v0.178 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic LOF and missense variants reported
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Marked gene: AGMO as ready
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Classified gene: AGMO as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1537 AGMO Sue White Gene: agmo has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1536 AGMO Sue White gene: AGMO was added
gene: AGMO was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGMO were set to 31555905
Phenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy
Penetrance for gene: AGMO were set to Complete
Review for gene: AGMO was set to GREEN
Added comment: biallelic missense and LOF variants reported
Sources: Literature
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Marked gene: VWF as ready
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Gene: vwf has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.2 VWF Zornitza Stark Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480
Bleeding and Platelet Disorders v0.1 VWF Zornitza Stark Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.177 MDH1 Sue White Marked gene: MDH1 as ready
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.177 MDH1 Sue White Classified gene: MDH1 as Amber List (moderate evidence)
Genetic Epilepsy v0.177 MDH1 Sue White Gene: mdh1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.176 MDH1 Sue White gene: MDH1 was added
gene: MDH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH1 were set to 31538237
Phenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability
Penetrance for gene: MDH1 were set to Complete
Added comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID
Sources: Literature
Arthrogryposis v0.13 ISLR2 Sue White Marked gene: ISLR2 as ready
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.13 ISLR2 Sue White Classified gene: ISLR2 as Amber List (moderate evidence)
Arthrogryposis v0.13 ISLR2 Sue White Gene: islr2 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.12 ISLR2 Sue White gene: ISLR2 was added
gene: ISLR2 was added to Arthrogryposis_VCGS. Sources: Literature
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Penetrance for gene: ISLR2 were set to Complete
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Literature
Mendeliome v0.764 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.764 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Mendeliome v0.764 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Mendeliome v0.763 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to unknown
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
gene: NOTCH2NL was marked as current diagnostic
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Regression v0.59 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.59 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.58 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to Incomplete
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Bleeding and Platelet Disorders v0.0 VWF Chern Lim changed review comment from: Loss of function variants have been reported in both dominant and recessive form of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually carries null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).; to: Loss of function variants have been reported in both dominant and recessive forms of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually associated with null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).
Bleeding and Platelet Disorders v0.0 VWF Chern Lim reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM#193400, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554, von Willibrand disease, type 3, MIM#277480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.762 RFC1 Sue White Marked gene: RFC1 as ready
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.762 RFC1 Sue White Classified gene: RFC1 as Green List (high evidence)
Mendeliome v0.762 RFC1 Sue White Gene: rfc1 has been classified as Green List (High Evidence).
Mendeliome v0.761 RFC1 Sue White gene: RFC1 was added
gene: RFC1 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Penetrance for gene: RFC1 were set to unknown
Mode of pathogenicity for gene: RFC1 was set to Other
Review for gene: RFC1 was set to GREEN
Added comment: adult onset ataxia due to biallelic intronic STR expansion
Sources: Literature
Mendeliome v0.760 AVPR2 Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539
Mendeliome v0.759 AVPR2 Zornitza Stark Publications for gene: AVPR2 were set to
Mendeliome v0.758 AVPR2 Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.757 TRAC Zornitza Stark Marked gene: TRAC as ready
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.757 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Mendeliome v0.757 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Mendeliome v0.756 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to GREEN
Added comment: Sources: Expert list
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Marked gene: TRAC as ready
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Classified gene: TRAC as Green List (high evidence)
Combined Immunodeficiency v0.36 TRAC Zornitza Stark Gene: trac has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.35 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to GREEN
Added comment: Sources: Expert list
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Classified gene: SKIV2L as Green List (high evidence)
Predominantly Antibody Deficiency v0.7 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.6 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 22444670
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM#614602
Review for gene: SKIV2L was set to GREEN
Added comment: Immunodeficiency is part of the phenotype.
Sources: Expert list
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.17 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
Review for gene: SAMD9 was set to GREEN
Added comment: Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections.
Sources: Expert list
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Classified gene: PMS2 as Green List (high evidence)
Combined Immunodeficiency v0.34 PMS2 Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.33 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, MIM# 276300
Review for gene: PMS2 was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Marked gene: PEPD as ready
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Classified gene: PEPD as Green List (high evidence)
Disorders of immune dysregulation v0.16 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.15 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, MIM#170100
Review for gene: PEPD was set to GREEN
Added comment: Recurrent infections, SLE.
Sources: Expert list
Mendeliome v0.755 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
Mendeliome v0.755 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.755 NSMCE3 Zornitza Stark Mode of inheritance for gene: NSMCE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.754 NSMCE3 Zornitza Stark Phenotypes for gene: NSMCE3 were changed from to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Mendeliome v0.753 NSMCE3 Zornitza Stark Publications for gene: NSMCE3 were set to
Mendeliome v0.752 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Mendeliome v0.752 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.751 NSMCE3 Zornitza Stark reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27427983; Phenotypes: Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Marked gene: NSMCE3 as ready
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Classified gene: NSMCE3 as Amber List (moderate evidence)
Combined Immunodeficiency v0.32 NSMCE3 Zornitza Stark Gene: nsmce3 has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v0.31 NSMCE3 Zornitza Stark gene: NSMCE3 was added
gene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE3 were set to 27427983
Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Review for gene: NSMCE3 was set to AMBER
Added comment: Two unrelated families, some functional data.
Sources: Expert list
Combined Immunodeficiency v0.30 NBN Zornitza Stark Marked gene: NBN as ready
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.30 NBN Zornitza Stark Classified gene: NBN as Green List (high evidence)
Combined Immunodeficiency v0.30 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.29 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260
Review for gene: NBN was set to GREEN
Added comment: Immunodeficiency is a recognised feature.
Sources: Expert list
Mendeliome v0.751 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.751 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Mendeliome v0.751 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Mendeliome v0.750 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 4288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.15 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.27 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Marked gene: MSN as ready
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Mendeliome v0.749 AVPR2 Belinda Chong reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9127330, PubMed: 15872203; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Susceptibility to Viral Infections v0.6 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.5 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Marked gene: SALL2 as ready
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark Gene: sall2 has been classified as Red List (Low Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.35 SALL2 Zornitza Stark gene: SALL2 was added
gene: SALL2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Other
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820
Review for gene: SALL2 was set to RED
Added comment: Single family reported, supportive functional data.
Sources: Other
Mendeliome v0.749 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.749 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Mendeliome v0.749 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Mendeliome v0.748 STAG2 Zornitza Stark gene: STAG2 was added
gene: STAG2 was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Phenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022
Review for gene: STAG2 was set to GREEN
Added comment: 12 unrelated families reported both males and females affected.
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Marked gene: STAG2 as ready
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1535 STAG2 Zornitza Stark Phenotypes for gene: STAG2 were changed from to Mullegama-Klein-Martinez syndrome, MIM#301022
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Classified gene: STAG2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1534 STAG2 Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1533 STAG2 Dean Phelan gene: STAG2 was added
gene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list
Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690
Added comment: 12 unrelated families reported both males and females affected (OMIM).
Sources: Expert list
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Marked gene: PLA2G5 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Classified gene: PLA2G5 as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Added comment: Comment on list classification: Have features of RP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.2 PLA2G5 Bryony Thompson Gene: pla2g5 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Marked gene: OAT as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Classified gene: OAT as Green List (high evidence)
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Added comment: Comment on list classification: Can have features of RP
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.1 OAT Bryony Thompson Gene: oat has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.7 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.35 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from Mental retardation with language impairment and with or without autistic features, MIM# 613670 to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Autism v0.34 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Autism v0.34 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.6 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Autism v0.34 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Cerebellar and Pontocerebellar Hypoplasia v0.5 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.33 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Mendeliome v0.747 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Mendeliome v0.747 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Autism v0.33 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.747 IRF3 Zornitza Stark Phenotypes for gene: IRF3 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Autism v0.32 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.31 FOXP1 Zornitza Stark reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26633542, 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features, MIM# 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Mendeliome v0.746 IRF3 Zornitza Stark Publications for gene: IRF3 were set to
Intellectual disability syndromic and non-syndromic v0.1533 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Intellectual disability syndromic and non-syndromic v0.1532 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Intellectual disability syndromic and non-syndromic v0.1531 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.745 IRF3 Zornitza Stark Mode of inheritance for gene: IRF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.744 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Mendeliome v0.744 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.743 IRF3 Zornitza Stark reviewed gene: IRF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Marked gene: IRF3 as ready
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Classified gene: IRF3 as Amber List (moderate evidence)
Susceptibility to Viral Infections v0.4 IRF3 Zornitza Stark Gene: irf3 has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v0.3 IRF3 Zornitza Stark gene: IRF3 was added
gene: IRF3 was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: IRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF3 were set to 26216125; 20660188; 26513235
Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Penetrance for gene: IRF3 were set to Incomplete
Review for gene: IRF3 was set to AMBER
Added comment: Two affected individuals reported, reduced penetrance, mouse model.
Sources: Expert list
Mendeliome v0.743 MESD Zornitza Stark Marked gene: MESD as ready
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.743 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Mendeliome v0.743 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Mendeliome v0.742 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Mendeliome_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five families reported.
Sources: Other
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.10 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Skeletal dysplasia v0.5 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal dysplasia v0.5 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal dysplasia v0.4 MESD Zornitza Stark Gene: mesd has been classified as Red List (Low Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Marked gene: MESD as ready
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Osteogenesis Imperfecta and Osteoporosis v0.2 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal dysplasia v0.4 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Intellectual disability syndromic and non-syndromic v0.1530 FOXP1 Michelle Torres reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26633542, PMID: 28741757; Phenotypes: Mental retardation with language impairment and with or without autistic features 613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Osteogenesis Imperfecta and Osteoporosis v0.1 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Osteogenesis imperfecta_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.10 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD; 2. Brain small vessel disease with or without ocular anomalies, 175780, AD; 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD; 4. ?Retinal arteries, tortuosity of, 180000, AD; 5. {Hemorrhage, intracerebral, susceptibility to}, 614519
Polymicrogyria and Schizencephaly v0.9 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Polymicrogyria and Schizencephaly v0.8 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.1530 COASY Michelle Torres reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24360804, PMID: 30089828; Phenotypes: Neurodegeneration with brain iron accumulation 6 615643, Pontocerebellar hypoplasia, type 12 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.7 COL4A1 Michelle Torres reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23065703, PMID: 31719132; Phenotypes: 1. Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 AD, 2. Brain small vessel disease with or without ocular anomalies, 175780, AD, 3. Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564, AD, 4. ?Retinal arteries, tortuosity of, 180000, AD, 5. {Hemorrhage, intracerebral, susceptibility to}, 614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported.
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1530 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Genetic Epilepsy v0.175 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.57 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Regression v0.57 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.57 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Genetic Epilepsy v0.174 NUP214 Zornitza Stark gene: NUP214 was added
gene: NUP214 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 30758658
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Literature
Regression v0.56 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Regression v0.55 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Regression v0.55 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.5 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to ?Retinal arteries, tortuosity of MIM#180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564
Muscular dystrophy and myopathy_Paediatric v0.4 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Muscular dystrophy and myopathy_Paediatric v0.3 COL4A1 Zornitza Stark Mode of pathogenicity for gene: COL4A1 was changed from to Other
Mendeliome v0.741 EHHADH Zornitza Stark Marked gene: EHHADH as ready
Mendeliome v0.741 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Muscular dystrophy and myopathy_Paediatric v0.2 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.741 EHHADH Zornitza Stark Phenotypes for gene: EHHADH were changed from to Fanconi renotubular syndrome 3; OMIM#615605
Mendeliome v0.740 EHHADH Zornitza Stark Publications for gene: EHHADH were set to
Mendeliome v0.739 EHHADH Zornitza Stark Classified gene: EHHADH as Red List (low evidence)
Mendeliome v0.739 EHHADH Zornitza Stark Gene: ehhadh has been classified as Red List (Low Evidence).
Mendeliome v0.738 EHHADH Zornitza Stark reviewed gene: EHHADH: Rating: RED; Mode of pathogenicity: None; Publications: 24401050; Phenotypes: Fanconi renotubular syndrome 3, OMIM#615605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Marked gene: VTN as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Added comment: Comment when marking as ready: Downgraded to Red after review against Genomics England panel.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.20 VTN Zornitza Stark Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome
Mendeliome v0.738 VTN Zornitza Stark Marked gene: VTN as ready
Mendeliome v0.738 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.19 VTN Zornitza Stark Publications for gene: VTN were set to
Mendeliome v0.738 VTN Zornitza Stark Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome
Mendeliome v0.737 VTN Zornitza Stark Publications for gene: VTN were set to
Atypical Haemolytic Uraemic Syndrome_MPGN v0.18 VTN Zornitza Stark Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.736 VTN Zornitza Stark Mode of inheritance for gene: VTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.735 VTN Zornitza Stark Classified gene: VTN as Red List (low evidence)
Mendeliome v0.735 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Mendeliome v0.734 VTN Zornitza Stark reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: Atypical haemolytic uraemic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.734 ANLN Zornitza Stark Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.733 ANLN Zornitza Stark Classified gene: ANLN as Amber List (moderate evidence)
Mendeliome v0.733 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.732 ANLN Zornitza Stark reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.732 ARHGAP24 Zornitza Stark Marked gene: ARHGAP24 as ready
Mendeliome v0.732 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.732 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Mendeliome v0.731 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Mendeliome v0.730 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.729 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Mendeliome v0.729 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Mendeliome v0.728 ARHGAP24 Zornitza Stark reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.728 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Mendeliome v0.728 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.728 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Mendeliome v0.727 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Mendeliome v0.726 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.725 CD2AP Zornitza Stark Classified gene: CD2AP as Amber List (moderate evidence)
Mendeliome v0.725 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.724 CD2AP Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.724 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.724 ITSN1 Zornitza Stark Classified gene: ITSN1 as Green List (high evidence)
Mendeliome v0.724 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Mendeliome v0.723 ITSN1 Zornitza Stark gene: ITSN1 was added
gene: ITSN1 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITSN1 were set to 29773874
Review for gene: ITSN1 was set to GREEN
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Expert list
Mendeliome v0.722 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.722 LAMA5 Zornitza Stark Classified gene: LAMA5 as Amber List (moderate evidence)
Mendeliome v0.722 LAMA5 Zornitza Stark Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.89 PODXL Zornitza Stark Marked gene: PODXL as ready
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Proteinuria v0.89 PODXL Zornitza Stark Classified gene: PODXL as Green List (high evidence)
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.721 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Mendeliome v0.721 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Mendeliome v0.720 TNS2 Zornitza Stark gene: TNS2 was added
gene: TNS2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNS2 were set to 29773874
Phenotypes for gene: TNS2 were set to Nephrotic syndrome
Review for gene: TNS2 was set to GREEN
Added comment: Five families reported in this paper reporting multiple new SRNS genes.
Sources: Expert list
Mendeliome v0.719 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Mendeliome v0.719 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Proteinuria v0.88 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Proteinuria v0.88 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Proteinuria v0.88 TPRKB Zornitza Stark Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, OMIM #617731
Proteinuria v0.87 TPRKB Zornitza Stark Publications for gene: TPRKB were set to
Proteinuria v0.86 TPRKB Zornitza Stark Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Classified gene: FOXC2 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.4 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.3 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Classified gene: LAMB2 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.2 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Classified gene: JAG1 as Green List (high evidence)
Eye Anterior Segment Abnormalities v0.1 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v0.1 COL4A1 Chern Lim reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23065703, 20818663; Phenotypes: ?Retinal arteries, tortuosity of MIM#180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.17 Zornitza Stark Panel name changed from Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH to Atypical Haemolytic Uraemic Syndrome_MPGN_KidGen_VCGS_RMH
Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 THBD Chirag Patel Classified gene: THBD as Amber List (moderate evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.16 THBD Chirag Patel Gene: thbd has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 THBD Chirag Patel reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, OMIM #612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 VTN Zornitza Stark Classified gene: VTN as Red List (low evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.15 VTN Zornitza Stark Gene: vtn has been classified as Red List (Low Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Marked gene: CFHR2 as ready
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Classified gene: CFHR2 as Green List (high evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.14 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.13 CFHR2 Zornitza Stark gene: CFHR2 was added
gene: CFHR2 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list
Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFHR2 were set to 24334459; 23728178; 20800271
Phenotypes for gene: CFHR2 were set to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Review for gene: CFHR2 was set to GREEN
Added comment: Variants currently not detectable by NGS: the pathogenic mutations in CFHR5, CFHR1 and CFHR2 that are known to cause disease are all gene duplication/fusion/rearrangement events which all lead to the production of elongated proteins, see Gale, 20800271; Tortajada 23728178; Chen, 24334459.
Sources: Expert list
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 CFHR5 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR5.
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 ADAMTS13 Chirag Patel Classified gene: ADAMTS13 as Amber List (moderate evidence)
Atypical Haemolytic Uraemic Syndrome_MPGN v0.12 ADAMTS13 Chirag Patel Gene: adamts13 has been classified as Amber List (Moderate Evidence).
Atypical Haemolytic Uraemic Syndrome_MPGN v0.11 ADAMTS13 Chirag Patel reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombotic thrombocytopenic purpura, familial, OMIM #274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 TPRKB Chirag Patel reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, OMIM #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Proteinuria v0.85 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.83 TNS2 Zornitza Stark gene: TNS2 was added
gene: TNS2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNS2 were set to 29773874
Phenotypes for gene: TNS2 were set to Nephrotic syndrome
Review for gene: TNS2 was set to GREEN
Added comment: Five families reported in this paper reporting multiple new SRNS genes.
Sources: Expert list
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.79 LAMA5 Chirag Patel reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Eye Anterior Segment Abnormalities v0.0 JAG1 Chris Richmond gene: JAG1 was added
gene: JAG1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 21730847; 10051485; 18097983; 9951486
Phenotypes for gene: JAG1 were set to Alagille syndrome 118450
Penetrance for gene: JAG1 were set to Complete
Review for gene: JAG1 was set to GREEN
Added comment: From PMID 21730847: "Ocular anomalies are seen in 78-95% of patients, primarily posterior embryotoxon, although other ASDs such as iris hypoplasia and small corneal diameters are also common and irido-corneal synechiae and corectopia have been occasionally reported (PMIDs 10051485, 18097983, 9951486)"
Sources: Literature
Proteinuria v0.79 KANK1 Chirag Patel Classified gene: KANK1 as Red List (low evidence)
Proteinuria v0.79 KANK1 Chirag Patel Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.79 KANK4 Chirag Patel Classified gene: KANK4 as Red List (low evidence)
Proteinuria v0.79 KANK4 Chirag Patel Gene: kank4 has been classified as Red List (Low Evidence).
Proteinuria v0.78 KANK1 Chirag Patel reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 KANK4 Chirag Patel reviewed gene: KANK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v0.0 LAMB2 Chris Richmond gene: LAMB2 was added
gene: LAMB2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 21730847; 18672223; 15367484; 20556798
Phenotypes for gene: LAMB2 were set to Pierson syndrome 609049
Penetrance for gene: LAMB2 were set to Complete
Review for gene: LAMB2 was set to GREEN
Added comment: From PMID 21730847 review: "The primary ocular feature is miosis. Other eye defects that are occasionally observed include iris hypoplasia, ectropion uveae, microcornea, glaucoma, cataract, posterior embryotoxon, microphthalmia, posterior lenticonus, microspherophakia, cloudy or enlarged corneas, and generalized anterior segment dysgenesis (PMID 18672223). The full spectrum of mutations and associated phenotypes was recently reviewed (PMID 20556798). The majority of mutations are truncating; while missense mutations are typically associated with later onset of renal disease and lack of neurologic abnormalities, phenotypic variability is not perfectly correlated to LAMB2 genotype"
Sources: Literature
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.76 ITSN1 Chirag Patel gene: ITSN1 was added
gene: ITSN1 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITSN1 were set to PMID: 29773874
Phenotypes for gene: ITSN1 were set to Early childhood SSNS
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Literature
Eye Anterior Segment Abnormalities v0.0 COL4A1 Chris Richmond gene: COL4A1 was added
gene: COL4A1 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 21730847; 16598045; 16107487; 20385946
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 175780; Microangiopathy and leukoencephalopathy, pontine 618564
Penetrance for gene: COL4A1 were set to unknown
Review for gene: COL4A1 was set to GREEN
Added comment: PMID 21730847: "Anterior segment ocular anomalies (Table 2) including early-onset cataract, ARA, corneal opacities, congenital cataract, microcornea, elevated intraocular pressure, and/or
glaucoma"
Sources: Literature
Proteinuria v0.75 CD2AP Chirag Patel Classified gene: CD2AP as Amber List (moderate evidence)
Proteinuria v0.75 CD2AP Chirag Patel Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.74 CD2AP Chirag Patel reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Eye Anterior Segment Abnormalities v0.0 FOXC2 Chris Richmond gene: FOXC2 was added
gene: FOXC2 was added to Eye Anterior Segment Abnormalities_VCGS. Sources: Literature
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 12766066; 21730847
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome 153400
Penetrance for gene: FOXC2 were set to unknown
Review for gene: FOXC2 was set to GREEN
Added comment: Ocular examination of patients with lymphedema-distichiasis syndrome and mutations in FOXC2, another member of the forkhead family, identified mild ASD, including partial iris hypoplasia, corectopia, reduced corneal diameter, and localized corneal opacification, in those with mutations within the forkhead domain (PMID: 21730847). No subsequent studies have investigated the role of FOXC2 in anterior segment dysgenesis.
Sources: Literature
Proteinuria v0.74 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to 21911940
Proteinuria v0.73 ARHGAP24 Zornitza Stark Marked gene: ARHGAP24 as ready
Proteinuria v0.73 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.73 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Proteinuria v0.72 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Proteinuria v0.71 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.70 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Proteinuria v0.70 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.69 ARHGAP24 Zornitza Stark reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.69 APOL1 Chirag Patel Classified gene: APOL1 as Red List (low evidence)
Proteinuria v0.69 APOL1 Chirag Patel Gene: apol1 has been classified as Red List (Low Evidence).
Proteinuria v0.68 APOL1 Chirag Patel reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.67 ANLN Chirag Patel reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Familial hypercholesterolaemia v0.5 SLC25A13 Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, adult-onset type II, MIM#603471; Citrullinemia, type II, neonatal-onset, MIM#605814
Familial hypercholesterolaemia v0.4 SLC25A13 Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.3 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence)
Familial hypercholesterolaemia v0.3 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence).
Familial hypercholesterolaemia v0.2 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, adult-onset type II, MIM#603471, Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Marked gene: LPL as ready
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Gene: lpl has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.2 LPL Zornitza Stark Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250
Familial hypercholesterolaemia v0.1 LPL Zornitza Stark Mode of inheritance for gene: LPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.0 LPL Zornitza Stark reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A13 was set to Unknown
Familial hypercholesterolaemia v0.0 PCSK9 Zornitza Stark gene: PCSK9 was added
gene: PCSK9 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCSK9 was set to Unknown
Familial hypercholesterolaemia v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LPL was set to Unknown
Familial hypercholesterolaemia v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPA was set to Unknown
Familial hypercholesterolaemia v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDLRAP1 was set to Unknown
Familial hypercholesterolaemia v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDLR was set to Unknown
Familial hypercholesterolaemia v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27A1 was set to Unknown
Familial hypercholesterolaemia v0.0 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOE was set to Unknown
Familial hypercholesterolaemia v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOB was set to Unknown
Familial hypercholesterolaemia v0.0 ABCG8 Zornitza Stark gene: ABCG8 was added
gene: ABCG8 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG8 was set to Unknown
Familial hypercholesterolaemia v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCG5 was set to Unknown
Familial hypercholesterolaemia v0.0 Zornitza Stark Added panel Familial hypercholesterolaemia_VCGS
Ciliary Dyskinesia v0.2 ZMYND10 Chern Lim reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22, MIM#615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.0 PCSK9 Bryony Thompson gene: PCSK9 was added
gene: PCSK9 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LPL Bryony Thompson gene: LPL was added
gene: LPL was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Dyslipidaemia v0.0 LMF1 Bryony Thompson gene: LMF1 was added
gene: LMF1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Combined lipase deficiency
Dyslipidaemia v0.0 LIPA Bryony Thompson gene: LIPA was added
gene: LIPA was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease
Dyslipidaemia v0.0 LDLRAP1 Bryony Thompson gene: LDLRAP1 was added
gene: LDLRAP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LDLR Bryony Thompson gene: LDLR was added
gene: LDLR was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Dyslipidaemia v0.0 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID
Dyslipidaemia v0.0 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREB3L3 were set to Hypertriglyceridaemia
Dyslipidaemia v0.0 APOE Bryony Thompson gene: APOE was added
gene: APOE was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Dyslipidaemia v0.0 APOC3 Bryony Thompson gene: APOC3 was added
gene: APOC3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APOC3 were set to Apolipoprotein C-III deficiency
Dyslipidaemia v0.0 APOC2 Bryony Thompson gene: APOC2 was added
gene: APOC2 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib
Dyslipidaemia v0.0 APOB Bryony Thompson gene: APOB was added
gene: APOB was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia
Dyslipidaemia v0.0 APOA5 Bryony Thompson gene: APOA5 was added
gene: APOA5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia
Dyslipidaemia v0.0 APOA1 Bryony Thompson gene: APOA1 was added
gene: APOA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA1 were set to Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia
Dyslipidaemia v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Dyslipidaemia v0.0 ABCG8 Bryony Thompson gene: ABCG8 was added
gene: ABCG8 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCG5 Bryony Thompson gene: ABCG5 was added
gene: ABCG5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia
Dyslipidaemia v0.0 Bryony Thompson Added panel Hyperlipidaemia_RMH
Proteinuria v0.67 DLC1 Zornitza Stark Marked gene: DLC1 as ready
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.67 DLC1 Zornitza Stark Classified gene: DLC1 as Green List (high evidence)
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.66 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLC1 were set to 29773874
Phenotypes for gene: DLC1 were set to Neprhotic syndrome
Review for gene: DLC1 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Combined Immunodeficiency v0.26 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.25 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
Added comment: Neutropaenia is a feature of this metabolic condition.
Sources: Expert list
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Marked gene: HELLS as ready
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Classified gene: HELLS as Green List (high evidence)
Combined Immunodeficiency v0.24 HELLS Zornitza Stark Gene: hells has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.23 HELLS Zornitza Stark gene: HELLS was added
gene: HELLS was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HELLS were set to 26216346
Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911
Review for gene: HELLS was set to GREEN
Added comment: Five individuals from four unrelated families.
Sources: Expert list
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Marked gene: GINS1 as ready
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Classified gene: GINS1 as Green List (high evidence)
Combined Immunodeficiency v0.22 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.21 GINS1 Zornitza Stark gene: GINS1 was added
gene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS1 were set to 28414293
Phenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827
Review for gene: GINS1 was set to GREEN
Added comment: IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported.
Sources: Expert list
Phagocyte Defects v0.4 G6PD Zornitza Stark Marked gene: G6PD as ready
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Phagocyte Defects v0.4 G6PD Zornitza Stark Classified gene: G6PD as Green List (high evidence)
Phagocyte Defects v0.4 G6PD Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence).
Phagocyte Defects v0.3 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Phagocyte defects_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to GREEN
Added comment: Neutrophil leukocytosis
Sources: Expert list
Progressive Myoclonic Epilepsy v0.0 TPP1 Bryony Thompson gene: TPP1 was added
gene: TPP1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Progressive Myoclonic Epilepsy v0.0 TBC1D24 Bryony Thompson gene: TBC1D24 was added
gene: TBC1D24 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16 615338; DOORS syndrome 220500; Myoclonic epilepsy, infantile, familial 605021
Progressive Myoclonic Epilepsy v0.0 SERPINI1 Bryony Thompson gene: SERPINI1 was added
gene: SERPINI1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies
Progressive Myoclonic Epilepsy v0.0 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Progressive Myoclonic Epilepsy v0.0 PRICKLE1 Bryony Thompson gene: PRICKLE1 was added
gene: PRICKLE1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PRICKLE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B 612437
Progressive Myoclonic Epilepsy v0.0 PPT1 Bryony Thompson gene: PPT1 was added
gene: PPT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730
Progressive Myoclonic Epilepsy v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Progressive Myoclonic Epilepsy v0.0 NHLRC1 Bryony Thompson gene: NHLRC1 was added
gene: NHLRC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 NEU1 Bryony Thompson gene: NEU1 was added
gene: NEU1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type II
Progressive Myoclonic Epilepsy v0.0 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7 610951
Progressive Myoclonic Epilepsy v0.0 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Progressive Myoclonic Epilepsy v0.0 KCNC1 Bryony Thompson gene: KCNC1 was added
gene: KCNC1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to Epilepsy, progressive myoclonic 7 616187
Progressive Myoclonic Epilepsy v0.0 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRN were set to Ceroid lipofuscinosis, neuronal, 11, MIM#614706
Progressive Myoclonic Epilepsy v0.0 GOSR2 Bryony Thompson gene: GOSR2 was added
gene: GOSR2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Progressive Myoclonic Epilepsy v0.0 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2, 617829
Progressive Myoclonic Epilepsy v0.0 FOLR1 Bryony Thompson gene: FOLR1 was added
gene: FOLR1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures
Progressive Myoclonic Epilepsy v0.0 FARS2 Bryony Thompson gene: FARS2 was added
gene: FARS2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946
Progressive Myoclonic Epilepsy v0.0 EPM2A Bryony Thompson gene: EPM2A was added
gene: EPM2A was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Progressive Myoclonic Epilepsy v0.0 DNAJC5 Bryony Thompson gene: DNAJC5 was added
gene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Progressive Myoclonic Epilepsy v0.0 CTSF Bryony Thompson gene: CTSF was added
gene: CTSF was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Progressive Myoclonic Epilepsy v0.0 CTSD Bryony Thompson gene: CTSD was added
gene: CTSD was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127
Progressive Myoclonic Epilepsy v0.0 CSTB Bryony Thompson gene: CSTB was added
gene: CSTB was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Unverricht-Lundborg syndrome; Epilepsy, progressive myoclonic type 1
Progressive Myoclonic Epilepsy v0.0 CLN8 Bryony Thompson gene: CLN8 was added
gene: CLN8 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; Ceroid lipofuscinosis, neuronal, 8 600143
Progressive Myoclonic Epilepsy v0.0 CLN6 Bryony Thompson gene: CLN6 was added
gene: CLN6 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780
Progressive Myoclonic Epilepsy v0.0 CLN5 Bryony Thompson gene: CLN5 was added
gene: CLN5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM#256731
Progressive Myoclonic Epilepsy v0.0 CLN3 Bryony Thompson gene: CLN3 was added
gene: CLN3 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 204200
Progressive Myoclonic Epilepsy v0.0 CERS1 Bryony Thompson gene: CERS1 was added
gene: CERS1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230
Progressive Myoclonic Epilepsy v0.0 BRAT1 Bryony Thompson gene: BRAT1 was added
gene: BRAT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Progressive Myoclonic Epilepsy v0.0 ATP13A2 Bryony Thompson gene: ATP13A2 was added
gene: ATP13A2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Progressive Myoclonic Epilepsy v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Progressive Myoclonic Epilepsy v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Progressive Myoclonic Epilepsy v0.0 Bryony Thompson Added panel Progressive Myoclonic Epilepsy_RMH
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1529 EXTL3 Zornitza Stark Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Intellectual disability syndromic and non-syndromic v0.1528 EXTL3 Zornitza Stark Publications for gene: EXTL3 were set to
Intellectual disability syndromic and non-syndromic v0.1527 EXTL3 Zornitza Stark Mode of inheritance for gene: EXTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.1526 EXTL3 Zornitza Stark reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690, 28148688; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Combined Immunodeficiency v0.20 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.19 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690; 28148688
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Review for gene: EXTL3 was set to GREEN
Added comment: 12 individuals from 7 families reported.
Sources: Expert list
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.13 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Review for gene: ERCC6L2 was set to GREEN
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Combined Immunodeficiency v0.18 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.17 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Mendeliome v0.718 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.718 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Mendeliome v0.718 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Mendeliome v0.717 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.8 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Marked gene: DNASE1L3 as ready
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Classified gene: DNASE1L3 as Green List (high evidence)
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.6 DNASE1L3 Zornitza Stark gene: DNASE1L3 was added
gene: DNASE1L3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE1L3 were set to 22019780; 30008451
Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, MIM# 614420
Review for gene: DNASE1L3 was set to GREEN
Added comment: Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift.
Sources: Expert list
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.
Sources: Expert list
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Marked gene: CDCA7 as ready
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Classified gene: CDCA7 as Green List (high evidence)
Combined Immunodeficiency v0.16 CDCA7 Zornitza Stark Gene: cdca7 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.15 CDCA7 Zornitza Stark gene: CDCA7 was added
gene: CDCA7 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDCA7 were set to 26216346
Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Review for gene: CDCA7 was set to GREEN
Added comment: Five patients from four unrelated families; presents with recurrent infections in childhood, dysmorphic features and ID variable.
Sources: Expert list
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Marked gene: CD70 as ready
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Classified gene: CD70 as Green List (high evidence)
Disorders of immune dysregulation v0.14 CD70 Zornitza Stark Gene: cd70 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.13 CD70 Zornitza Stark gene: CD70 was added
gene: CD70 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD70 were set to 28011864; 28011863
Phenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261
Review for gene: CD70 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Complement Deficiencies v0.5 CD55 Zornitza Stark Marked gene: CD55 as ready
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.5 CD55 Zornitza Stark Classified gene: CD55 as Green List (high evidence)
Complement Deficiencies v0.5 CD55 Zornitza Stark Gene: cd55 has been classified as Green List (High Evidence).
Complement Deficiencies v0.4 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Complement deficiencies_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD55 were set to 28657829; 28657861
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Review for gene: CD55 was set to GREEN
Added comment: Nine families reported.
Sources: Expert list
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Marked gene: CD40 as ready
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Classified gene: CD40 as Green List (high evidence)
Combined Immunodeficiency v0.14 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.13 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD40 were set to 11675497; 12915844
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Review for gene: CD40 was set to GREEN
Added comment: Sources: Expert list
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Marked gene: CARMIL2 as ready
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Classified gene: CARMIL2 as Green List (high evidence)
Disorders of immune dysregulation v0.12 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.11 CARMIL2 Zornitza Stark gene: CARMIL2 was added
gene: CARMIL2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: CARMIL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARMIL2 were set to 29479355; 28112205; 27896283
Phenotypes for gene: CARMIL2 were set to Immunodeficiency 58, MIM# 618131
Review for gene: CARMIL2 was set to GREEN
Added comment: Eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses; inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Effective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired
Sources: Expert list
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Inflammatory bowel disease v0.2 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.1 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Inflammatory bowel disease_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Marked gene: BACH2 as ready
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Classified gene: BACH2 as Green List (high evidence)
Disorders of immune dysregulation v0.10 BACH2 Zornitza Stark Gene: bach2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.9 BACH2 Zornitza Stark gene: BACH2 was added
gene: BACH2 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: BACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BACH2 were set to 28530713
Phenotypes for gene: BACH2 were set to Immunodeficiency 60, MIM# 618394; inflammatory bowel disease; recurrent sinopulmonary infections
Review for gene: BACH2 was set to GREEN
Added comment: Two families and a mouse model.
Sources: Expert list
Mendeliome v0.716 IGHM Zornitza Stark Marked gene: IGHM as ready
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.716 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Mendeliome v0.716 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Mendeliome v0.715 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHM were set to 12370281; 8890099
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM# 601495
Review for gene: IGHM was set to GREEN
Added comment: Multiple families reported; please note a 40kb deletion as well as SNVs.
Sources: Expert list
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Marked gene: RPSA as ready
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital, MIM# 271400
Defects of intrinsic and innate immunity v0.4 RPSA Zornitza Stark Publications for gene: RPSA were set to
Defects of intrinsic and innate immunity v0.3 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Defects of intrinsic and innate immunity v0.2 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497; Phenotypes: Asplenia, isolated congenital, MIM# 271400; Mode of inheritance: None
Combined Immunodeficiency v0.12 MSN Zornitza Stark Marked gene: MSN as ready
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.12 MSN Zornitza Stark Classified gene: MSN as Green List (high evidence)
Combined Immunodeficiency v0.12 MSN Zornitza Stark Gene: msn has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.11 MSN Zornitza Stark gene: MSN was added
gene: MSN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MSN were set to 27405666
Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988
Review for gene: MSN was set to GREEN
Added comment: Seven males from five unrelated families reported.
Sources: Expert list
Severe Combined Immunodeficiency (absent T present B cells) v0.4 LAT Zornitza Stark Marked gene: LAT as ready
Severe Combined Immunodeficiency (absent T present B cells) v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v0.4 LAT Zornitza Stark Classified gene: LAT as Green List (high evidence)
Severe Combined Immunodeficiency (absent T present B cells) v0.4 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T present B cells) v0.3 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Severe combined immunodeficiency (absent T, present B cells)_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27522155; 27242165; 10204488
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Review for gene: LAT was set to GREEN
Added comment: At least two families and good functional data.
Sources: Expert list
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Marked gene: IGHM as ready
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Predominantly Antibody Deficiency v0.5 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.4 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHM were set to 12370281; 8890099
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, MIM# 601495
Review for gene: IGHM was set to GREEN
Added comment: Multiple families reported; please note a 40kb deletion as well as SNVs.
Sources: Expert list
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.10 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Marked gene: ARPC1B as ready
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.3 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Common Variable Immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972
Review for gene: ATP6AP1 was set to GREEN
Added comment: 11 patients from 6 families reported.
Sources: Expert list
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.9 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Classified gene: ARPC1B as Green List (high evidence)
Combined Immunodeficiency v0.8 ARPC1B Zornitza Stark Gene: arpc1b has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.7 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 28368018
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Review for gene: ARPC1B was set to GREEN
Added comment: Three patients from two families with functional data.
Sources: Expert list
Mendeliome v0.714 ANGPTL6 Zornitza Stark Marked gene: ANGPTL6 as ready
Mendeliome v0.714 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.714 ANGPTL6 Zornitza Stark Phenotypes for gene: ANGPTL6 were changed from to Cerebral aneurysm
Mendeliome v0.713 ANGPTL6 Zornitza Stark Publications for gene: ANGPTL6 were set to
Mendeliome v0.712 ANGPTL6 Zornitza Stark Mode of inheritance for gene: ANGPTL6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.711 ANGPTL6 Zornitza Stark Classified gene: ANGPTL6 as Red List (low evidence)
Mendeliome v0.711 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Red List (Low Evidence).
Mendeliome v0.710 ANGPTL6 Zornitza Stark reviewed gene: ANGPTL6: Rating: RED; Mode of pathogenicity: None; Publications: 29304371; Phenotypes: Cerebral aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Classified gene: RAB34 as Red List (low evidence)
Macrocephaly_Megalencephaly v0.11 RAB34 Zornitza Stark Gene: rab34 has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.10 RAB34 Zornitza Stark reviewed gene: RAB34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.31 RANBP17 Zornitza Stark Marked gene: RANBP17 as ready
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.31 RANBP17 Zornitza Stark Classified gene: RANBP17 as Red List (low evidence)
Autism v0.31 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Autism v0.30 RANBP17 Zornitza Stark reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.1526 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Regression v0.54 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.710 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Mendeliome v0.710 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.709 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Marked gene: NUP214 as ready
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Classified gene: NUP214 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.1525 NUP214 Sue White Gene: nup214 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.1524 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Penetrance for gene: NUP214 were set to Complete
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Mendeliome v0.708 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Mendeliome v0.708 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Mendeliome v0.707 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to unknown
Review for gene: ATP2B2 was set to GREEN
gene: ATP2B2 was marked as current diagnostic
Added comment: Sources: Literature
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Marked gene: ATP2B2 as ready
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Classified gene: ATP2B2 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.226 ATP2B2 Sue White Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.225 ATP2B2 Sue White gene: ATP2B2 was added
gene: ATP2B2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B2 were set to 30535804
Phenotypes for gene: ATP2B2 were set to progressive sensorineural deafness
Penetrance for gene: ATP2B2 were set to Incomplete
Review for gene: ATP2B2 was set to GREEN
Added comment: onset in first decade
LOF
Sources: Literature
Incidentalome v0.6 RABL3 Sue White Marked gene: RABL3 as ready