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BabyScreen+ newborn screening v0.1200 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1199 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Marked gene: GJC2 as ready
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1199 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from Pelizaeus-Merzbacher-like disease to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
BabyScreen+ newborn screening v0.1198 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1197 GJC2 Zornitza Stark Classified gene: GJC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1197 GJC2 Zornitza Stark Gene: gjc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1196 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1196 GJB1 Zornitza Stark Marked gene: GJB1 as ready
BabyScreen+ newborn screening v0.1196 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1196 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
BabyScreen+ newborn screening v0.1195 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1194 GJB1 Zornitza Stark Classified gene: GJB1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1194 GJB1 Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1193 GJB1 Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1193 GIF Zornitza Stark Marked gene: GIF as ready
BabyScreen+ newborn screening v0.1193 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1193 GIF Zornitza Stark Phenotypes for gene: GIF were changed from Intrinsic factor deficiency, MIM# 261000; Intrinsic factor deficiency # 261000 to Intrinsic factor deficiency, MIM# 261000
BabyScreen+ newborn screening v0.1192 GIF Zornitza Stark Publications for gene: GIF were set to
BabyScreen+ newborn screening v0.1191 GIF Zornitza Stark Tag new gene name tag was added to gene: GIF.
Tag treatable tag was added to gene: GIF.
Tag haematological tag was added to gene: GIF.
BabyScreen+ newborn screening v0.1191 GIF Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intrinsic factor deficiency MIM#261000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Marked gene: CHUK as ready
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Classified gene: CHUK as Amber List (moderate evidence)
Combined Immunodeficiency v1.31 CHUK Zornitza Stark Gene: chuk has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.30 CHUK Zornitza Stark gene: CHUK was added
gene: CHUK was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to 34533979
Phenotypes for gene: CHUK were set to Combined immunodeficiency, MONDO:0015131, CHUK-related
Review for gene: CHUK was set to AMBER
Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.
Sources: Literature
Mendeliome v1.540 CHUK Zornitza Stark Phenotypes for gene: CHUK were changed from Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome to Combined immunodeficiency, MONDO:0015131, CHUK-related; Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome
Mendeliome v1.539 CHUK Zornitza Stark Publications for gene: CHUK were set to 25691407; 20961246; 10195895; 10195896; 29523099; 28513979
Mendeliome v1.538 CHUK Zornitza Stark edited their review of gene: CHUK: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, CHUK-related, Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome
Mendeliome v1.538 CHUK Zornitza Stark edited their review of gene: CHUK: Added comment: PMID 34533979: single individual reported with homozygous missense variant in this gene and recurrent infections, skeletal abnormalities, absent secondary lymphoid structures, reduced B cell numbers, hypogammaglobulinemia, and lymphocytic infiltration of intestine. Supportive functional data.; Changed publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979, 34533979
Susceptibility to Viral Infections v0.108 IRF7 Zornitza Stark Publications for gene: IRF7 were set to 25814066; 15800576
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Susceptibility to Viral Infections v0.107 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Susceptibility to Viral Infections v0.106 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811
Mendeliome v1.538 IRF7 Zornitza Stark Publications for gene: IRF7 were set to 25814066; 15800576
Mendeliome v1.537 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Mendeliome v1.537 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Defects of intrinsic and innate immunity v0.127 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Mendeliome v1.536 IRF7 Zornitza Stark Classified gene: IRF7 as Green List (high evidence)
Mendeliome v1.536 IRF7 Zornitza Stark Gene: irf7 has been classified as Green List (High Evidence).
Mendeliome v1.535 IRF7 Zornitza Stark edited their review of gene: IRF7: Changed rating: GREEN
Defects of intrinsic and innate immunity v0.126 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed rating: GREEN; Changed publications: 25814066, 15800576, 35986347, 35670811
Mendeliome v1.535 IRF7 Zornitza Stark edited their review of gene: IRF7: Added comment: Additional individuals reported PMIDs 35986347, 35670811: total of 7; Changed publications: 25814066, 15800576, 35986347, 35670811
BabyScreen+ newborn screening v0.1191 SLC16A1 Zornitza Stark Mode of inheritance for gene: SLC16A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1190 SLC16A1 Zornitza Stark Tag metabolic tag was added to gene: SLC16A1.
BabyScreen+ newborn screening v0.1190 SLC16A1 Zornitza Stark reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1190 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
BabyScreen+ newborn screening v0.1190 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1190 SLC13A5 Zornitza Stark reviewed gene: SLC13A5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1190 SLC25A38 Zornitza Stark Tag treatable tag was added to gene: SLC25A38.
Tag haematological tag was added to gene: SLC25A38.
BabyScreen+ newborn screening v0.1190 SLC25A20 Zornitza Stark Tag metabolic tag was added to gene: SLC25A20.
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1190 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
BabyScreen+ newborn screening v0.1189 TNFRSF11A Zornitza Stark Tag treatable tag was added to gene: TNFRSF11A.
Tag skeletal tag was added to gene: TNFRSF11A.
BabyScreen+ newborn screening v0.1189 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
BabyScreen+ newborn screening v0.1189 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1189 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease to Paget disease of bone 5, juvenile-onset MIM#239000
BabyScreen+ newborn screening v0.1188 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
BabyScreen+ newborn screening v0.1187 TNFRSF11B Zornitza Stark Classified gene: TNFRSF11B as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1187 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1186 TNFRSF11B Zornitza Stark Tag for review tag was added to gene: TNFRSF11B.
Tag skeletal tag was added to gene: TNFRSF11B.
BabyScreen+ newborn screening v0.1186 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
BabyScreen+ newborn screening v0.1186 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1186 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 to Osteopetrosis, autosomal recessive 2 MIM#259710
BabyScreen+ newborn screening v0.1185 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
BabyScreen+ newborn screening v0.1184 TNFSF11 Zornitza Stark Classified gene: TNFSF11 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1184 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1183 TNFSF11 Zornitza Stark Tag for review tag was added to gene: TNFSF11.
Tag skeletal tag was added to gene: TNFSF11.
BabyScreen+ newborn screening v0.1183 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1183 TNNI2 Zornitza Stark Marked gene: TNNI2 as ready
BabyScreen+ newborn screening v0.1183 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1183 TNNI2 Zornitza Stark Phenotypes for gene: TNNI2 were changed from Distal arthrogryposis syndrome 2b to Arthrogryposis, distal, type 2B1 MIM#601680
BabyScreen+ newborn screening v0.1182 TNNI2 Zornitza Stark Publications for gene: TNNI2 were set to
BabyScreen+ newborn screening v0.1181 TNNI2 Zornitza Stark Classified gene: TNNI2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1181 TNNI2 Zornitza Stark Gene: tnni2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1180 TNNT1 Zornitza Stark Marked gene: TNNT1 as ready
BabyScreen+ newborn screening v0.1180 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1180 TNNT1 Zornitza Stark Phenotypes for gene: TNNT1 were changed from Nemaline myopathy, Amish type to Nemaline myopathy 5, Amish type MIM#605355
BabyScreen+ newborn screening v0.1179 TNNT1 Zornitza Stark Publications for gene: TNNT1 were set to
BabyScreen+ newborn screening v0.1178 TNNT1 Zornitza Stark Classified gene: TNNT1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1178 TNNT1 Zornitza Stark Gene: tnnt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1177 TNNT1 Zornitza Stark reviewed gene: TNNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Marked gene: ELP2 as ready
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Gene: elp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5120 ELP2 Zornitza Stark Phenotypes for gene: ELP2 were changed from to intellectual disability, autosomal recessive 58 MONDO:0014996
Intellectual disability syndromic and non-syndromic v0.5119 ELP2 Zornitza Stark Publications for gene: ELP2 were set to
Intellectual disability syndromic and non-syndromic v0.5118 ELP2 Zornitza Stark Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5117 ELP2 Zornitza Stark reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: intellectual disability, autosomal recessive 58 MONDO:0014996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5117 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, OMIM:300373
Intellectual disability syndromic and non-syndromic v0.5116 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Intellectual disability syndromic and non-syndromic v0.5115 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Marked gene: DLD as ready
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5114 DLD Zornitza Stark Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Intellectual disability syndromic and non-syndromic v0.5113 DLD Zornitza Stark Publications for gene: DLD were set to
Intellectual disability syndromic and non-syndromic v0.5112 DLD Zornitza Stark Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5111 DLD Zornitza Stark reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5111 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis, MIM# 602398
Intellectual disability syndromic and non-syndromic v0.5110 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Intellectual disability syndromic and non-syndromic v0.5109 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Gene: dock8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5108 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to intellectual developmental disorder, autosomal dominant 2, MIM#614113
Intellectual disability syndromic and non-syndromic v0.5107 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Intellectual disability syndromic and non-syndromic v0.5106 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5105 CDC42 Zornitza Stark Publications for gene: CDC42 were set to
Intellectual disability syndromic and non-syndromic v0.5104 CDC42 Zornitza Stark Phenotypes for gene: CDC42 were changed from to Takenouchi-Kosaki syndrome, MIM#616737
Intellectual disability syndromic and non-syndromic v0.5103 CDC42 Zornitza Stark Mode of inheritance for gene: CDC42 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5102 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Intellectual disability syndromic and non-syndromic v0.5101 ALMS1 Zornitza Stark Publications for gene: ALMS1 were set to
Intellectual disability syndromic and non-syndromic v0.5100 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5099 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
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Marked gene: BLM as ready
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5099 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Intellectual disability syndromic and non-syndromic v0.5098 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5097 BLM Zornitza Stark Classified gene: BLM as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5097 BLM Zornitza Stark Gene: blm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1177 TNNT3 Zornitza Stark Marked gene: TNNT3 as ready
BabyScreen+ newborn screening v0.1177 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1177 TNNT3 Zornitza Stark Phenotypes for gene: TNNT3 were changed from Arthyrgryposis, distal to Arthrogryposis, distal MIM#618435
BabyScreen+ newborn screening v0.1176 TNNT3 Zornitza Stark Publications for gene: TNNT3 were set to
BabyScreen+ newborn screening v0.1175 TNNT3 Zornitza Stark Classified gene: TNNT3 as Red List (low evidence)
BabyScreen+ newborn screening v0.1175 TNNT3 Zornitza Stark Gene: tnnt3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1174 TP53 Zornitza Stark Marked gene: TP53 as ready
BabyScreen+ newborn screening v0.1174 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1174 TP53 Zornitza Stark Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome to Li-Fraumeni syndrome MIM#151623
BabyScreen+ newborn screening v0.1173 TP53 Zornitza Stark Publications for gene: TP53 were set to
BabyScreen+ newborn screening v0.1172 TP53 Zornitza Stark Tag for review tag was added to gene: TP53.
Tag cancer tag was added to gene: TP53.
Tag treatable tag was added to gene: TP53.
BabyScreen+ newborn screening v0.1172 TPM2 Zornitza Stark Marked gene: TPM2 as ready
BabyScreen+ newborn screening v0.1172 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1172 TPM2 Zornitza Stark Phenotypes for gene: TPM2 were changed from Nemaline myopathy; Arthrogryposis multiplex congenita, distal to Arthrgryposis MIM#108120; Nemaline myopathy MIM#609285
BabyScreen+ newborn screening v0.1171 TPM2 Zornitza Stark Publications for gene: TPM2 were set to
BabyScreen+ newborn screening v0.1170 TPM2 Zornitza Stark Classified gene: TPM2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1170 TPM2 Zornitza Stark Gene: tpm2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5096 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from to Peters Plus Syndrome (MIM 261540); Peters anomaly; Growth retardation; Brachydactyly; ID
Intellectual disability syndromic and non-syndromic v0.5095 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Intellectual disability syndromic and non-syndromic v0.5094 B3GLCT Zornitza Stark Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1169 TPM3 Zornitza Stark Marked gene: TPM3 as ready
BabyScreen+ newborn screening v0.1169 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1169 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy; Congenital fiber-type disproportion myopathy to CAP myopathy 1, MIM# 609284; Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284
BabyScreen+ newborn screening v0.1168 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
BabyScreen+ newborn screening v0.1167 TPM3 Zornitza Stark Classified gene: TPM3 as Red List (low evidence)
BabyScreen+ newborn screening v0.1167 TPM3 Zornitza Stark Gene: tpm3 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5093 AP1S1 Zornitza Stark Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome, MIM# 609313
Intellectual disability syndromic and non-syndromic v0.5092 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to 30244301; 24754424; 19057675; 23423674
Intellectual disability syndromic and non-syndromic v0.5091 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to
Intellectual disability syndromic and non-syndromic v0.5090 AP1S1 Zornitza Stark Mode of inheritance for gene: AP1S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5089 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis MIM #228000
Intellectual disability syndromic and non-syndromic v0.5088 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Intellectual disability syndromic and non-syndromic v0.5087 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Marked gene: SLC26A3 as ready
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Gene: slc26a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1166 SLC26A3 Seb Lunke Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type to Diarrhoea 1, secretory chloride, congenital, MIM# 214700
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Marked gene: DPM1 as ready
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Gene: dpm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5086 DPM1 Zornitza Stark Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, MIM# 608799
BabyScreen+ newborn screening v0.1165 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diarrhoea 1, secretory chloride, congenital, MIM# 214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5085 DPM1 Zornitza Stark Publications for gene: DPM1 were set to 10642602; 23856421; 16641202; 15669674; 10642597
Intellectual disability syndromic and non-syndromic v0.5085 DPM1 Zornitza Stark Publications for gene: DPM1 were set to
Intellectual disability syndromic and non-syndromic v0.5084 DPM1 Zornitza Stark Mode of inheritance for gene: DPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Mendeliome v1.535 LIG1 Zornitza Stark Phenotypes for gene: LIG1 were changed from Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis to Immunodeficiency 96, MIM# 619774; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Tag for review tag was added to gene: SLC26A2.
BabyScreen+ newborn screening v0.1165 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from Achondrogenesis 1B to Achondrogenesis 1B, MIM#600972
BabyScreen+ newborn screening v0.1164 SLC26A2 Seb Lunke Classified gene: SLC26A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1164 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Red List (Low Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v1.3 LIG1 Zornitza Stark Marked gene: LIG1 as ready
Severe Combined Immunodeficiency (absent T absent B cells) v1.3 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v1.3 LIG1 Zornitza Stark Phenotypes for gene: LIG1 were changed from Severe combined immunodeficiency to Immunodeficiency 96, MIM# 619774
BabyScreen+ newborn screening v0.1163 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achondrogenesis 1B, MIM#600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v1.2 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Severe Combined Immunodeficiency (absent T absent B cells) v1.2 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v1.1 LIG1 Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 96, MIM# 619774; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Marked gene: SLC25A4 as ready
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1163 SLC25A4 Seb Lunke Phenotypes for gene: SLC25A4 were changed from Progressive external ophthalmoplegia to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
BabyScreen+ newborn screening v0.1162 SLC25A4 Seb Lunke Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1161 SLC25A4 Seb Lunke Classified gene: SLC25A4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1161 SLC25A4 Seb Lunke Gene: slc25a4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1160 SLC25A4 Seb Lunke reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Marked gene: CENPF as ready
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5083 CENPF Zornitza Stark Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)
Intellectual disability syndromic and non-syndromic v0.5082 CENPF Zornitza Stark Publications for gene: CENPF were set to
Intellectual disability syndromic and non-syndromic v0.5081 CENPF Zornitza Stark Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.0 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5080 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5080 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.187 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.187 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Autism v0.187 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Autism v0.186 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.534 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Mendeliome v1.534 NLGN4X Zornitza Stark Added comment: Comment when marking as ready: Definitive assessment by ClinGen noted, as well as 'limited' assessments by G2P and Genomics England. Many of the variants are multi-gene deletions; phenotypes are not well delineated, with several individuals not having ID.
Mendeliome v1.534 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
Mendeliome v1.534 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674
Mendeliome v1.533 NLGN4X Zornitza Stark Classified gene: NLGN4X as Amber List (moderate evidence)
Mendeliome v1.533 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1160 SLC16A1 Seb Lunke Marked gene: SLC16A1 as ready
BabyScreen+ newborn screening v0.1160 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1160 SLC16A1 Seb Lunke Publications for gene: SLC16A1 were set to
BabyScreen+ newborn screening v0.1159 SLC16A1 Seb Lunke Tag for review tag was added to gene: SLC16A1.
BabyScreen+ newborn screening v0.1159 SLC16A1 Seb Lunke Classified gene: SLC16A1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1159 SLC16A1 Seb Lunke Gene: slc16a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1158 SLC16A1 Seb Lunke reviewed gene: SLC16A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301549; Phenotypes: Monocarboxylate transporter 1 deficiency, MIM# 616095; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1158 SLC13A5 Seb Lunke Classified gene: SLC13A5 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1158 SLC13A5 Seb Lunke Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1157 SLC13A5 Seb Lunke gene: SLC13A5 was added
gene: SLC13A5 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC13A5.
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 29895383
Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Established gene-disease association.

Childhood onset, neurological condition

Treatment: Ketogenic diet, stiripentol effective in one study of three related patients

Non-genetic confirmatory test: plasma and CSF citrate levels
Sources: Literature
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1156 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
BabyScreen+ newborn screening v0.1155 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Marked gene: SLC25A20 as ready
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Gene: slc25a20 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1155 SLC25A20 Seb Lunke Publications for gene: SLC25A20 were set to
BabyScreen+ newborn screening v0.1154 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie edited their review of gene: TNFRSF11A: Changed rating: GREEN
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie changed review comment from: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
No treatment



NB AD phenotype has later onset; to: strong gene disease association
Infant onset osteopetrosis and immunodeficiency
Treatment bone marrow transplant



NB AD phenotype has later onset
BabyScreen+ newborn screening v0.1154 TNFSF11 Lilian Downie changed review comment from: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment; to: Strong gene disease association (gene also known as RANKL)
Infant, early childhood onset increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia.
No treatment
BabyScreen+ newborn screening v0.1154 TNFRSF11A Lilian Downie reviewed gene: TNFRSF11A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36031188, PMID: 35812760; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 TNFRSF11B Lilian Downie reviewed gene: TNFRSF11B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 25108083, PMID: 34166796, PMID: 29080812; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 TNFSF11 Lilian Downie edited their review of gene: TNFSF11: Changed rating: RED
BabyScreen+ newborn screening v0.1154 TNFSF11 Lilian Downie reviewed gene: TNFSF11: Rating: ; Mode of pathogenicity: None; Publications: PMID:17632511, PMID: 36031188, PMID: 32940787; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 TNNI2 Lilian Downie reviewed gene: TNNI2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34502093; Phenotypes: Arthrogryposis, distal, type 2B1 MIM#601680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.186 NLGN4X Krithika Murali gene: NLGN4X was added
gene: NLGN4X was added to Autism. Sources: Expert list
Mode of inheritance for gene: NLGN4X 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: NLGN4X were set to PMID:26350204; PMID:14963808; PMID:12669065; PMID:23352163; PMID:28263302; PMID:16648374
Phenotypes for gene: NLGN4X were set to Intellectual developmental disorder, X-linked - MIM#300495
Review for gene: NLGN4X was set to GREEN
Added comment: ClinGen ID/Autism GCEP 1/8/2018: Definitive association. Decision was made to lump into X-linked complex neurodevelopmental disorder encompassing autism spectrum disorders, intellectual disability, attention deficit hyperactivity disorder (ADHD), and/or cerebral palsy phenotypes.

Clinvar P/LP SNV's identified through clinical testing entries reviewed:
c.1747C>T (p.Arg583Trp) - dev delay, ASD, ADHD, cardiac defects, dysmorphism
c.625+1G>A - no disease assertion provided (2022 entry)
c.334dup (p.Gln112fs) - no clinical information
c.301C>T (p.Arg101Ter) - 3 entries - x1 ASD susceptibility disease assertion - reported in an individual with BCS1L variant also who had short stature, failure to thrive, rickets, Fanconi syndrome, delayed motor milestones, absent speech, developmental regression, intellectual disability, hypotonia, seizure disorder, gait ataxia, abnormal movements (laughing behavior and tongue protrusion), dysmorphic features, microcephaly, history of seizure disorder.

Decipher - LP c.456C>G; p.Tyr152Ter - Cited in the literature PMID 26350204 - male XY with ID.
Sources: Expert list
Mendeliome v1.532 NLGN4X Krithika Murali reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5079 NLGN4X Krithika Murali reviewed gene: NLGN4X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:26350204, PMID:14963808, PMID:12669065, PMID:23352163, PMID:28263302, PMID:16648374; Phenotypes: Intellectual developmental disorder, X-linked - MIM#300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1154 TNNT1 Lilian Downie reviewed gene: TNNT1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29931346, 10952871; Phenotypes: Nemaline myopathy 5, Amish type MIM#605355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 CENPF Mark Williams reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.172 CENPF Mark Williams Deleted their review
Microcephaly v1.172 CENPF Mark Williams reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35488810, 31953238, 26820108; Phenotypes: Stromme syndrome, microcephaly, intestinal atresia, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 ELP2 Renee Crooks changed review comment from: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;
-spastic diplegia
-cortico-cerebullar
-nodular heterotopia
-epilepsy
-severe motor development delay
-short stature
-neuropsychiatric problems
-choreoathetosis
-nystagmus; to: Phenotype of Intellectual Disability has been observed in the PMIDs listed above in the following forms;
-spastic diplegia
-cortico-cerebullar
-nodular heterotopia
-epilepsy
-severe motor development delay
-short stature
-neuropsychiatric problems
-choreoathetosis
-nystagmus

NB - review submit by Renée Crooks ( aka using google account as Lee Ren)
Intellectual disability syndromic and non-syndromic v0.5079 ELP2 Renee Crooks reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33510603: 33976153: 33393008: 34653680: 25847581; Phenotypes: Intellectual Diability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 AMER1 Deepak Subramanian reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19079258, 22987541, 23401208, 28497491, 32879452, 35186393, 20950377, 22043478; Phenotypes: Osteopathia striata with cranial sclerosis, OMIM:300373, Osteopathia striata-cranial sclerosis syndrome, ORPHA:2780, Intellectual disability, HP:0001249; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5079 DLD Philip Adam Harraka reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34745891, 33092611, 8968745; Phenotypes: Dihydrolipoamide dehydrogenase deficiency, hepatic and neurological disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DHCR24 Nicolle Hua reviewed gene: DHCR24: 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: PMID: 11519011, 24961299, 29175559, 21559050, 12457401, 21671375; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DOCK8 Shannon Nicolson reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736, 29930340, 29191242, 33455084, 32978894, 25435912; Phenotypes: MIM#614113 intellectual developmental disorder, autosomal dominant 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 CDC42 Lorraine Skalicka reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29925821, 26708094, 26386261, 29394990; Phenotypes: Takenouchi-Kosaki syndrome, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 ALMS1 Christa Whelan reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: MIM # 203800, 27142762, 25846608, 18154657, 25296579, 17146208, 17940554, 22043170, 31889847, 2231654, 8418611, 8181924, 8556827, 9663233, 25864795, 8556827, 11941369.; Phenotypes: Alström Syndrome (multisystemic), characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus, Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence, Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 BLM Ken Lee Wan reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
BabyScreen+ newborn screening v0.1154 TNNT3 Lilian Downie reviewed gene: TNNT3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19309503; Phenotypes: Arthrogryposis, distal MIM#618435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1154 TP53 Lilian Downie reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28572266; Phenotypes: Li-Fraumeni syndrome MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1154 TPM2 Lilian Downie reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27726070; Phenotypes: Arthrgryposis MIM#108120, Nemaline myopathy MIM#609285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 B3GLCT Jessica Wright reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301637, 16909395, 17032646, 18199743, 25544610; Phenotypes: Peters Plus Syndrome (MIM 261540), Peters anomaly, Growth retardation, Brachydactyly, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 TPM3 Lilian Downie reviewed gene: TPM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26307083,PMID: 35668205; Phenotypes: Myopathy 255310, 609284, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5079 AP1S1 Gemma O'Farrell changed review comment from: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.

OMIM: 603531

AP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.; to: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.

OMIM: 603531

AP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.
Intellectual disability syndromic and non-syndromic v0.5079 AP1S1 Gemma O'Farrell reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244301, 24754424, 19057675, 23423674; Phenotypes: MENDIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 ASAH1 Jacqueline Montgomery reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875576; Phenotypes: Farber lipogranulomatosis MIM #228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5079 DPM1 Sindhu V changed review comment from: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.; to: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.
Intellectual disability syndromic and non-syndromic v0.5079 DPM1 Sindhu V reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10642602, 23856421, 16641202, 15669674, 10642597; Phenotypes: Acquired microcephaly, developmental delay, epilepsy, strabismus, hypotonia, cortical vision impairment, elevated creatine kinase, growth failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency (absent T absent B cells) v1.1 LIG1 Peter McNaughton changed review comment from: Sources: Literature; to: 3x individuals from 2x kindreds presenting with SCID.
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5079 BCKDK Zornitza Stark Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923
Intellectual disability syndromic and non-syndromic v0.5078 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Intellectual disability syndromic and non-syndromic v0.5077 BCKDK Zornitza Stark Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5076 BCKDK Zornitza Stark changed review comment from: At least 5 unrelated families reported. ID if untreated. Treatment available.; to: At least 5 unrelated families reported. ID/autism/seizures are part of the phenotype.

Treatment available: Branched-chain amino acid supplementation: improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s); improves systemic manifestations
Intellectual disability syndromic and non-syndromic v0.5076 BCKDK Zornitza Stark reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5076 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from to Joubert Syndrome 3 OMIM #608629
Intellectual disability syndromic and non-syndromic v0.5075 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Intellectual disability syndromic and non-syndromic v0.5074 AHI1 Zornitza Stark Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5073 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464
Intellectual disability syndromic and non-syndromic v0.5072 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Intellectual disability syndromic and non-syndromic v0.5071 CEP41 Zornitza Stark Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5070 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Intellectual disability syndromic and non-syndromic v0.5069 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Intellectual disability syndromic and non-syndromic v0.5068 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 BCKDK Savige Judy reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16875466, PMID: 22956686; Phenotypes: Intellectual disability, autism, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5067 AHI1 Caleb Cartagena reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15322546, 16453322, 21937992; Phenotypes: Joubert Syndrome 3 OMIM #608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 CEP41 Mitchell O'Brien reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 DAG1 Nicholas Clark reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: (PMID: 25934851, 29337005, 24052401, 21388311, 25503980, 30450679, 12140559, 21388311); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 HCFC1 John Christodoulou reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301503, PMID: 26893841, PMID: 35337626; Phenotypes: nonimmune hydrops, cardiomyopathy, intrauterine growth restriction, microcephaly, global dev delay, ID, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1154 HADH John Christodoulou reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16176262, PMID: 20936362; Phenotypes: hypoketotic hypoglycaemia, hyperinsulinism, fatty liver; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GYS2 John Christodoulou reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33489759; Phenotypes: fasting hypoglycaemia, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GUSB John Christodoulou reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31661765, PMID: 32063397; Phenotypes: facial dysmorphisms, skeletal deformities, cardiac valve involvement, ocular involvement, motor delay, developmental delay, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GRHPR John Christodoulou reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301742; Phenotypes: nephrolithiasis, haematuria, renal colic, obstruction of the urinary tract, Nephrocalcinosis, End-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GOT2 John Christodoulou reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31422819, PMID: 33990986; Phenotypes: neonatal hypotonia, feeding difficulties, global developmental delay, severe ID, infantile seizures, absent speech, spastic tetraplegia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GNS John Christodoulou reviewed gene: GNS: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31536183; Phenotypes: ID, Coarse facies, Thick hair and hirsutism, Hepatosplenomegaly, Joint stiffness, Hearing loss, Frequent upper-respiratory and ear infections, Inguinal and/or umbilical hernias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 GNPTG John Christodoulou reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301784; Phenotypes: Growth rate deceleration, Joint stiffness of the fingers, shoulders, and hips, Gradual mild coarsening of facial features, Genu valgum, scoliosis, hyperlordosis, mitral valve thickening; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Marked gene: ALPL as ready
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Marked gene: AIRE as ready
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Marked gene: AGXT as ready
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 Zornitza Stark promoted panel to version 1.0
Proteinuria v0.214 WT1 Chirag Patel reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Phenotypes: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kidneyome_SuperPanel v7.288 Chirag Patel Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulointerstitial Disease; Haematuria_Alport; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Renal Amyloidosis; Renal Tubulopathies and related disorders
Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Genetic Health Queensland
Renal Tubulopathies and related disorders v0.18 Chirag Patel Panel status changed from internal to public
Renal Tubulopathies and related disorders v0.17 SLC3A1 Chirag Patel reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25964309; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC6A19 Chirag Patel reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15286788; Phenotypes: Hartnup disorder, MIM# 234500, Hyperglycinuria, MIM# 138500, Iminoglycinuria, MIM# 242600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC4A4 Chirag Patel reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 10545938, 11274232, 35260236, 33439394; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278, hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Classified gene: SLC36A2 as Green List (high evidence)
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Gene: slc36a2 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v0.16 SLC36A2 Chirag Patel reviewed gene: SLC36A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC1A1 Chirag Patel reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC2A2 Chirag Patel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM #227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC7A9 Chirag Patel reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SCN4A Chirag Patel reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.16 GLA Chirag Patel reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28613767, 33673160; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Calcium and Phosphate disorders v0.79 CYP27B1 Chirag Patel reviewed gene: CYP27B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9486994, 9415400, 12050193, 27473561, 34492747, 33823104; Phenotypes: Vitamin D-dependent rickets, type I MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.15 CACNA1S Chirag Patel reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.15 CA2 Chirag Patel reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5067 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Regression v0.513 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Regression. Sources: Literature
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 24334290; 29654549; 21944046; 22562699; 26741492; 24334290
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
Review for gene: BOLA3 was set to GREEN
Added comment: At least 5 unrelated families reported. Clinical course is characterised by regression.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5066 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Intellectual disability syndromic and non-syndromic v0.5065 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5064 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5064 BOLA3 Layla Zhu reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24334290, PMID: 29654549, PMID: 21944046, PMID: 22562699, PMID: 26741492, PMID: 24334290; Phenotypes: multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.4 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A3R1 were set to 18784102
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Renal Tubulopathies and related disorders v0.4 SLC26A1 Zornitza Stark gene: SLC26A1 was added
gene: SLC26A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC26A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC26A1 were set to 27125215; 20160351; 30383413; 27210743
Phenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030
Renal Tubulopathies and related disorders v0.4 EGFR Zornitza Stark gene: EGFR was added
gene: EGFR was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Renal Tubulopathies and related disorders v0.4 EGF Zornitza Stark gene: EGF was added
gene: EGF was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGF were set to 17671655
Phenotypes for gene: EGF were set to Hypomagnesemia 4, renal, MIM#611718
Renal Tubulopathies and related disorders v0.4 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Renal Tubulopathies and related disorders v0.4 SLC36A2 Zornitza Stark gene: SLC36A2 was added
gene: SLC36A2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 26141664; 19033659; 27604308
Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic MIM#242600; Hyperglycinuria MIM#138500; Disorders of amino acid transport
Renal Tubulopathies and related disorders v0.4 SLC1A1 Zornitza Stark gene: SLC1A1 was added
gene: SLC1A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A1 were set to 21123949
Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM# 222730
Renal Tubulopathies and related disorders v0.4 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 27466185
Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913
Renal Tubulopathies and related disorders v0.4 KL Zornitza Stark gene: KL was added
gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber
Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KL were set to 17710231; 31013726; 9363890
Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
Renal Tubulopathies and related disorders v0.4 FXYD2 Zornitza Stark gene: FXYD2 was added
gene: FXYD2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Amber
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FXYD2 were set to 17980699; 18448590; 12763862; 25765846; 27014088; 11062458
Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937
Renal Tubulopathies and related disorders v0.4 EHHADH Zornitza Stark gene: EHHADH was added
gene: EHHADH was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHHADH were set to 24401050
Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3, MIM#615605
Renal Tubulopathies and related disorders v0.4 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKA were set to 18310267; 15044642
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090
Renal Tubulopathies and related disorders v0.4 ADCY10 Zornitza Stark gene: ADCY10 was added
gene: ADCY10 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY10 were set to 11932268
Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870
Renal Tubulopathies and related disorders v0.4 XDH Zornitza Stark gene: XDH was added
gene: XDH was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 32071838
Phenotypes for gene: XDH were set to Xanthinuria, type I (MIM#278300)
Renal Tubulopathies and related disorders v0.4 WNK4 Zornitza Stark gene: WNK4 was added
gene: WNK4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK4 were set to 31044551; 22266938
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, MIM# 614491
Renal Tubulopathies and related disorders v0.4 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK1 were set to 11498583; 32790646
Phenotypes for gene: WNK1 were set to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Renal Tubulopathies and related disorders v0.4 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028803; 30779877
Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA
Renal Tubulopathies and related disorders v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 31777725; 31240160; 24415890; 15052268
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Renal Tubulopathies and related disorders v0.4 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 20190753; 35151346
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Renal Tubulopathies and related disorders v0.4 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 17970811; 9005998; 2849209
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Renal Tubulopathies and related disorders v0.4 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 12471200; 12629136
Phenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000
Renal Tubulopathies and related disorders v0.4 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 21669885
Phenotypes for gene: TRPM6 were set to Hypomagnesaemia 1, intestinal (MIM#602014)
Renal Tubulopathies and related disorders v0.4 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 27666369
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Renal Tubulopathies and related disorders v0.4 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to 27338644; 15579741; 14561710; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Renal Tubulopathies and related disorders v0.4 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 30311510, 28688840, 27170158, 17522105
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy; OMIM #611087
Renal Tubulopathies and related disorders v0.4 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 10471498
Phenotypes for gene: SLC7A9 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 10080182; 18716612
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700
Renal Tubulopathies and related disorders v0.4 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Renal Tubulopathies and related disorders v0.4 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 15286788
Phenotypes for gene: SLC6A19 were set to Hyperglycinuria, MIM# 138500; Hartnup disorder, MIM# 234500; Iminoglycinuria, MIM# 242600
Renal Tubulopathies and related disorders v0.4 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC5A2 were set to 21165652; 12436245; 26376857
Phenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM# 233100
Renal Tubulopathies and related disorders v0.4 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 29914390; 10545938; 11274232; 35260236; 33439394
Phenotypes for gene: SLC4A4 were set to Hemiplegic migraine; Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Renal Tubulopathies and related disorders v0.4 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC4A1 were set to 10926824; 9312167; 9854053; 9600966
Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700; MONDO:0008368; Distal renal tubular acidosis 1, MIM# 179800
Renal Tubulopathies and related disorders v0.4 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 25964309
Phenotypes for gene: SLC3A1 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A3 were set to 32524022
Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Renal Tubulopathies and related disorders v0.4 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 33099630; 32216560; 31188746; 30943683; 26047794; 33516786; 30778725; 12324554; 32866123
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Hypercalcaemia, infantile, 2 MIM#616963
Renal Tubulopathies and related disorders v0.4 SLC2A9 Zornitza Stark gene: SLC2A9 was added
gene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765
Phenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076
Renal Tubulopathies and related disorders v0.4 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22145468; 30950137
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810
Renal Tubulopathies and related disorders v0.4 SLC22A12 Zornitza Stark gene: SLC22A12 was added
gene: SLC22A12 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A12 were set to 34756726; 34412930; 26821810; 34829836; 14655203
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, MIM# 220150, MONDO:0020728
Renal Tubulopathies and related disorders v0.4 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 8528245; 11102542
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome, MIM# 263800
Renal Tubulopathies and related disorders v0.4 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A1 were set to 8640224, 9355073, 28095294
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678
Renal Tubulopathies and related disorders v0.4 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 22207244; 31655555; 28484659; 30801930
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 2, MIM# 618114
Renal Tubulopathies and related disorders v0.4 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 1, MIM# 177200
Renal Tubulopathies and related disorders v0.4 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 28710092; 31301676
Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD
Renal Tubulopathies and related disorders v0.4 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN4A were set to 34671263; 11591859; 8385748
Phenotypes for gene: SCN4A were set to Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345; Paramyotonia congenita , MIM#168300; Hyperkalemic periodic paralysis, type 2, MIM# 170500
Renal Tubulopathies and related disorders v0.4 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 35790048; 28236339; 36041817; 34570399
Phenotypes for gene: SARS2 were set to neurodevelopmental disorder MONDO#070009, SARS1-related
Renal Tubulopathies and related disorders v0.4 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 32827185; 24741716
Phenotypes for gene: RRM2B were set to Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Renal Tubulopathies and related disorders v0.4 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 18835491; 23022099; 25604853; 23022098; 26395190
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11 MIM#614922
Renal Tubulopathies and related disorders v0.4 RET Zornitza Stark gene: RET was added
gene: RET was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 8099202; 7906866
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400
Renal Tubulopathies and related disorders v0.4 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045
Renal Tubulopathies and related disorders v0.4 PTH Zornitza Stark gene: PTH was added
gene: PTH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH were set to 2212001, 1302009, 10523031, 35165722, 32421798
Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200
Renal Tubulopathies and related disorders v0.4 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PHEX 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: PHEX were set to 31065622
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800
Renal Tubulopathies and related disorders v0.4 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, MIM# 112410
Renal Tubulopathies and related disorders v0.4 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24848070; 24204001
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Renal Tubulopathies and related disorders v0.4 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: OCRL 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: OCRL were set to 19773212, 27625797
Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000
Renal Tubulopathies and related disorders v0.4 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C2 were set to 11134129; 11344206; 9662404; 16972228; 12788847
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Renal Tubulopathies and related disorders v0.4 NR3C1 Zornitza Stark gene: NR3C1 was added
gene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340
Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962
Renal Tubulopathies and related disorders v0.4 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 1977311; 11528502; 12948746
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
Renal Tubulopathies and related disorders v0.4 MOCOS Zornitza Stark gene: MOCOS was added
gene: MOCOS was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCOS were set to 17368066; 34356852; 11302742; 32073534; 14624414; 27919260; 25967871; 30758870
Phenotypes for gene: MOCOS were set to Xanthinuria type II, MIM#603592
Renal Tubulopathies and related disorders v0.4 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Renal Tubulopathies and related disorders v0.4 MAGED2 Zornitza Stark gene: MAGED2 was added
gene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAGED2 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: MAGED2 were set to 34895150; 35668994; 27120771
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Renal Tubulopathies and related disorders v0.4 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 6624548; 30720493
Phenotypes for gene: LCAT were set to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
Renal Tubulopathies and related disorders v0.4 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Renal Tubulopathies and related disorders v0.4 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 24574546; 22203740; 24420545; 21311022
Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677
Renal Tubulopathies and related disorders v0.4 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to deafness; Renal tubulopathy; Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
Renal Tubulopathies and related disorders v0.4 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780
Renal Tubulopathies and related disorders v0.4 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200
Renal Tubulopathies and related disorders v0.4 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 32316562; 11026449
Phenotypes for gene: KCNA1 were set to Epilepsy, MONDO:0005027, KCNA1-related; Episodic ataxia/myokymia syndrome, MIM# 160120
Renal Tubulopathies and related disorders v0.4 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Renal Tubulopathies and related disorders v0.4 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD11B2 were set to 7670488; 17314322; 9683587
Phenotypes for gene: HSD11B2 were set to MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030
Renal Tubulopathies and related disorders v0.4 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPRT1 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: HPRT1 were set to 20176575
Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)
Renal Tubulopathies and related disorders v0.4 HOGA1 Zornitza Stark gene: HOGA1 was added
gene: HOGA1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 21896830; 20797690; 22391140
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616
Renal Tubulopathies and related disorders v0.4 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 31875549; 30005691; 28458902; 24285859; 22802087
Phenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
Renal Tubulopathies and related disorders v0.4 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 27234911
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920
Renal Tubulopathies and related disorders v0.4 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 11030416; 24116921; 10484776
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824
Renal Tubulopathies and related disorders v0.4 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 15331575
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic (612462) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Osseous heteroplasia, progressive (166350) AD; Pseudopseudohypoparathyroidism (612463)
Renal Tubulopathies and related disorders v0.4 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 27334330; 23802536; 23802516; 26818911; 24823460
Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcemia, type II MIM#145981; Hypocalcemia, autosomal dominant 2 MIM#615361
Renal Tubulopathies and related disorders v0.4 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,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)
Publications for gene: GLA were set to 8878432; 30681346; 31613176
Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)
Renal Tubulopathies and related disorders v0.4 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to 27745835, 20190276, 34967908, 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Renal Tubulopathies and related disorders v0.4 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATM were set to 29654216
Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600
Renal Tubulopathies and related disorders v0.4 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Renal Tubulopathies and related disorders v0.4 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 20358599; 32125652; 15133511
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Renal Tubulopathies and related disorders v0.4 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 12642503; 29242249; 9843211
Phenotypes for gene: FOXI1 were set to autosomal recessive distal renal tubular acidosis MONDO:0018440
Renal Tubulopathies and related disorders v0.4 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGF23 were set to 25378588; 34444516; 16151858; 16030159; 15590700; 11062477; 14966565
Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Renal Tubulopathies and related disorders v0.4 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476
Phenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775
Renal Tubulopathies and related disorders v0.4 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 24196488; 23697977; 23434854; 23468644; 25827751; 24756937; 21549343; 24259279; 21990045; 26502894
Phenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Renal Tubulopathies and related disorders v0.4 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 33010201; 32996714; 23684011; 32765931
Phenotypes for gene: FAM111A were set to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Renal Tubulopathies and related disorders v0.4 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 8318997; 8364576; 8253378; 1401056; 25681080
Phenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161
Renal Tubulopathies and related disorders v0.4 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENPP1 were set to 15605415; 20016754; 12881724; 20137772; 20137773; 33005041; 35220637; 28964717; 24075184; 26617416; 32598042
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Renal Tubulopathies and related disorders v0.4 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 32920683; 17033621; 17033625
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets MIM#241520
Renal Tubulopathies and related disorders v0.4 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Renal Tubulopathies and related disorders v0.4 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 27473561; 34492747; 12050193; 9486994; 33823104; 9415400
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I MIM#264700
Renal Tubulopathies and related disorders v0.4 CYP24A1 Zornitza Stark gene: CYP24A1 was added
gene: CYP24A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 21675912; 33186763; 32743688; 33516786; 32866123; 22047572
Phenotypes for gene: CYP24A1 were set to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Renal Tubulopathies and related disorders v0.4 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP21A2 were set to 11397897; 12930931; 12915679
Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Renal Tubulopathies and related disorders v0.4 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Renal Tubulopathies and related disorders v0.4 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 9360501; 9814506; 12788848; 8439335; 8772616; 15240589
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Renal Tubulopathies and related disorders v0.4 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP11B1 were set to 29703198; 1731223
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900
Renal Tubulopathies and related disorders v0.4 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 22266938
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, MIM# 614496
Renal Tubulopathies and related disorders v0.4 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 20301574, 9537412, 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Renal Tubulopathies and related disorders v0.4 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 11477613; 12410208; 8358442; 8651281
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110
Renal Tubulopathies and related disorders v0.4 CNNM2 Zornitza Stark gene: CNNM2 was added
gene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 35170241; 34604137
Phenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Renal Tubulopathies and related disorders v0.4 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 22422540; 27530400; 17033971
Phenotypes for gene: CLDN19 were set to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Renal Tubulopathies and related disorders v0.4 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 16501001; 32869508; 10878661; 26426912
Phenotypes for gene: CLDN16 were set to amelogenesis imperfecta MONDO#0019507, CLDN16-related; Hypomagnesemia 3, renal MIM#248250
Renal Tubulopathies and related disorders v0.4 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN10 were set to 28686597
Phenotypes for gene: CLDN10 were set to HELIX syndrome, MIM#617671
Renal Tubulopathies and related disorders v0.4 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 18310267; 15044642; 9326936
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090
Renal Tubulopathies and related disorders v0.4 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCN5 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: CLCN5 were set to 28580211; 8559248, 9596078
Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554
Renal Tubulopathies and related disorders v0.4 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN2 were set to 29403012; 29403011
Phenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635
Renal Tubulopathies and related disorders v0.4 CDKN1B Zornitza Stark gene: CDKN1B was added
gene: CDKN1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 24819502, 17030811, 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Renal Tubulopathies and related disorders v0.4 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to 12434154
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Renal Tubulopathies and related disorders v0.4 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 30760291; 8813042; 27234911
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980
Renal Tubulopathies and related disorders v0.4 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 11591859; 28012042
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, MIM# 170400
Renal Tubulopathies and related disorders v0.4 CACNA1H Zornitza Stark gene: CACNA1H was added
gene: CACNA1H was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1H were set to 25907736; 31126930; 27729216
Phenotypes for gene: CACNA1H were set to MONDO:0014875; Hyperaldosteronism, familial, type IV MIM#617027
Renal Tubulopathies and related disorders v0.4 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to 23913001; 32336187; 30698561
Phenotypes for gene: CACNA1D were set to MONDO:0014200; Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Renal Tubulopathies and related disorders v0.4 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Renal Tubulopathies and related disorders v0.4 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 21269598; 30174009; 11687798; 12574213; 27234911
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, MIM# 602522
Renal Tubulopathies and related disorders v0.4 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 26563427; 17314340; 24172246
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358
Renal Tubulopathies and related disorders v0.4 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: AVPR2 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: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203
Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800
Renal Tubulopathies and related disorders v0.4 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12414817; 9916796; 18798332; 16611712
Phenotypes for gene: ATP6V1B1 were set to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Renal Tubulopathies and related disorders v0.4 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 10973252; 12414817
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Renal Tubulopathies and related disorders v0.4 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036; Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314
Renal Tubulopathies and related disorders v0.4 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7537761; 11536078; 9649557; 20301356; 27156763; 7524315
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Renal Tubulopathies and related disorders v0.4 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 1353080; 2227934; 3680503; 7915931
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723
Renal Tubulopathies and related disorders v0.4 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 33729479; 3204769; 23222959; 29479578; 33168530; 31723423
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Renal Tubulopathies and related disorders v0.4 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AMMECR1 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: AMMECR1 were set to 28089922; 27811305; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Renal Tubulopathies and related disorders v0.4 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPL were set to 23688511; 19500388
Phenotypes for gene: ALPL were set to Hypophosphatasia, childhood, OMIM #241510; Odontohypophosphatasia, OMIM #146300; Hypophosphatasia, adult, OMIM # 146300; Hypophosphatasia, infantile, OMIM #241500
Renal Tubulopathies and related disorders v0.4 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AIRE were set to 35521792
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Renal Tubulopathies and related disorders v0.4 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 10453743; 2039493; 1703535; 19479957
Phenotypes for gene: AGXT were set to MONDO:0009823; Hyperoxaluria, primary, type 1, MIM# 259900
Mendeliome v1.532 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mendeliome v1.532 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Marked gene: CBS as ready
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5064 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Homocystinuria (MIM# 236200)
Intellectual disability syndromic and non-syndromic v0.5063 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5062 CBS Zornitza Stark reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria (MIM# 236200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Marked gene: DCLRE1B as ready
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita, autosomal recessive 8 to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Green List (high evidence)
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Mendeliome v1.531 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mendeliome v1.531 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.531 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mendeliome v1.531 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.530 MPC2 Zornitza Stark gene: MPC2 was added
gene: MPC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mitochondrial disease v0.849 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.529 Zornitza Stark removed gene:NPC1 from the panel
Intellectual disability syndromic and non-syndromic v0.5062 BOLA3 Layla Zhu Deleted their review
Intellectual disability syndromic and non-syndromic v0.5062 BOLA3 Layla Zhu reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29654549; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.849 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1813 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Genetic Epilepsy v0.1812 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Genetic Epilepsy v0.1811 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Mendeliome v1.528 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Mendeliome v1.527 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Mendeliome v1.527 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Marked gene: EMILIN1 as ready
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.75 EMILIN1 Zornitza Stark Publications for gene: EMILIN1 were set to PMID: 36351433
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31978608, 26462740; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Green List (high evidence)
Aortopathy_Connective Tissue Disorders v1.74 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Mendeliome v1.526 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio changed review comment from: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported.; to: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported. A deep intronic variant shown to affect splicing is recurrent.
Regression v0.512 EPRS Zornitza Stark Marked gene: EPRS as ready
Regression v0.512 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Regression v0.512 EPRS Zornitza Stark Classified gene: EPRS as Green List (high evidence)
Regression v0.512 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v1.526 LEMD2 Seb Lunke Phenotypes for gene: LEMD2 were changed from Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587; Cataract 46, juvenile-onset, OMIM# 212500
Mendeliome v1.525 LEMD2 Seb Lunke Publications for gene: LEMD2 were set to PMID: 30905398
Intellectual disability syndromic and non-syndromic v0.5062 EPRS Zornitza Stark Marked gene: EPRS as ready
Intellectual disability syndromic and non-syndromic v0.5062 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v1.524 LEMD2 Seb Lunke Mode of inheritance for gene: LEMD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.523 LEMD2 Seb Lunke reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31061923, 26788539, 30905398, 36377660; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322, arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587, Cataract 46, juvenile-onset, OMIM# 212500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Marked gene: LEMD2 as ready
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5062 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features
Intellectual disability syndromic and non-syndromic v0.5061 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5061 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Regression v0.511 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Regression v0.511 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Regression v0.511 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features
Regression v0.510 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Amber List (moderate evidence)
Regression v0.510 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Amber List (moderate evidence)
Genetic Epilepsy v0.1810 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.523 NUP54 Zornitza Stark Marked gene: NUP54 as ready
Mendeliome v1.523 NUP54 Zornitza Stark Gene: nup54 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.523 NUP54 Zornitza Stark Phenotypes for gene: NUP54 were changed from Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia
Mendeliome v1.522 NUP54 Zornitza Stark Mode of pathogenicity for gene: NUP54 was changed from None to None
Regression v0.509 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Regression v0.509 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.; Set current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5060 CBS Lloyd Pereira changed review comment from: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).

Multiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):

Multiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).

Multiple CBS variants reported in CBS deficiency (PMID: 12124992).

ClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).

Recent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.; to: Listed in OMIM with a strong disease association (MIM #236200 homocysteinuria).

Multiple experimental and clinical studies demonstrate link between CBS and homocysteinuria (see below):

Multiple LOF variants classified as pathogenic or likely pathogenic in ClinVar and reported in the literature in multiple homozygote and compound heterozygote individuals affected with homocystinuria, e.g. c.19dup p.(Gln7fs) (PMID: 25218699; 12124992) and c.919G>A p.(Gly307Ser) (PMID: 7506602, 7581402, 8744616, 9889017, 23733603).

Multiple CBS variants reported in CBS deficiency (PMID: 12124992).

ClinGen classify as definitive for Homocysteinuria. Clingen states- Twenty-one unique variants were curated (missense, nonsense, frameshift, and splice site) in 15 probands from 8 publications, and three of these probands each had two affected siblings in whom CBS variants were identified (PMID 1301198, 10408774, 7762555, 12815602, 16307898, 25455305, 26667307, 29508359). Gene-disease relationship is supported by the biochemical function of CBS, which is consistent with the biochemical features in patients with homocystinuria (including elevated plasma total homocysteine and methionine) (PMID 13654400, 15890029), functional studies in yeast, bacteria, and cultured cells, including chaperone studies in fibroblasts from patients with homocystinuria (PMID 9590298, 25331909), as well as the biochemical and clinical features of mouse models (PMID 18987302) and enzyme replacement studies in mice (PMID 29398487).

Recent review reports on role of CBS in down syndrome (PMID: 31955501). However, caveat that multiple genes are associated with down syndrome. Not a strong body of research available linking CBS variants and down syndrome.
Mendeliome v1.521 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mendeliome v1.521 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.24 DCLRE1B Manny Jacobs gene: DCLRE1B was added
gene: DCLRE1B was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCLRE1B were set to 10699141; 20479256; 35007328
Phenotypes for gene: DCLRE1B were set to Dyskeratosis congenita, autosomal recessive 8
Review for gene: DCLRE1B was set to GREEN
Added comment: PMID 35007328
3 unrelated individuals with progressive bone marrow failure in early childhood. Other variable features reported: growth restriction, mild microcephaly (-2.5 SD), facial dysmorphism, and speech delay or learning difficulties, one patient with mucocutaneous features. Two individuals developed esophageal strictures and the third developed inflammatory ulcerative colitis.
2 patients chet for truncating/missense variant
1 patient hom for missense variant
Patient cell lines demonstrated telomere fragility and instability and an increase in spontaneous radial chromosomes, chromosome breaks and sister chromatid exchanges, as well as reduced cell survival. CRISPR introduction of one WT allele in one patient complemented DNA repair defects.

PMID: 20479256
One individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients. Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”) No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection.
Sources: Literature
Mendeliome v1.520 FEM1C Zornitza Stark Marked gene: FEM1C as ready
Mendeliome v1.520 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Mendeliome v1.520 FEM1C Zornitza Stark Classified gene: FEM1C as Green List (high evidence)
Mendeliome v1.520 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Intellectual disability syndromic and non-syndromic v0.5060 CBS Lloyd Pereira reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocysteinuria B6-responsive and nonresponsive types, Thrombosis hyperhomocysteinemic.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty edited their review of gene: TCEAL1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related, hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features
Genetic Epilepsy v0.1809 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to AMBER
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals had seizures = amber for this panel at this stage.
Sources: Literature
Mendeliome v1.519 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Mendeliome v1.518 DCLRE1B Zornitza Stark Publications for gene: DCLRE1B were set to 20479256; 21647296
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence)
Arrhythmogenic Cardiomyopathy v0.66 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic Cardiomyopathy v0.65 LEMD2 Seb Lunke gene: LEMD2 was added
gene: LEMD2 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature
founder tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660
Phenotypes for gene: LEMD2 were set to arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Penetrance for gene: LEMD2 were set to Incomplete
Review for gene: LEMD2 was set to AMBER
Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.

Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)

Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).

It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time.
Sources: Literature
Cataract v0.348 LEMD2 Seb Lunke Marked gene: LEMD2 as ready
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Regression v0.509 EPRS Lucy Spencer gene: EPRS was added
gene: EPRS was added to Regression. Sources: Literature
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 36411955, 29576217
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951
Review for gene: EPRS was set to GREEN
Added comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter abnormality, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 3 with microcephaly, 1 noted to have some facial dysmorphism.
Sources: Literature
Cataract v0.348 LEMD2 Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence)
Cataract v0.348 LEMD2 Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.517 DCLRE1B Zornitza Stark Mode of inheritance for gene: DCLRE1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.516 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Green List (high evidence)
Mendeliome v1.516 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Mendeliome v1.515 DCLRE1B Zornitza Stark edited their review of gene: DCLRE1B: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 20479256, 21647296, 35007328
Cataract v0.347 LEMD2 Seb Lunke gene: LEMD2 was added
gene: LEMD2 was added to Cataract. Sources: Literature
founder tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660
Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM# 212500
Review for gene: LEMD2 was set to AMBER
Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely.

Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398)

Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660).

It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time.
Sources: Literature
Regression v0.509 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber at this stage.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber for this panel at this stage.
Sources: Literature
Mendeliome v1.515 NUP54 Zornitza Stark Mode of pathogenicity for gene: NUP54 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Regression v0.509 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Regression. Sources: Literature
Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to AMBER
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.

Only 2 individuals with regression = amber at this stage.
Sources: Literature
Mendeliome v1.514 NUP54 Zornitza Stark Classified gene: NUP54 as Amber List (moderate evidence)
Mendeliome v1.514 NUP54 Zornitza Stark Gene: nup54 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5060 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Mendeliome v1.513 NUP54 Hazel Phillimore gene: NUP54 was added
gene: NUP54 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to PMID: 36333996
Phenotypes for gene: NUP54 were set to Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia
Mode of pathogenicity for gene: NUP54 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: NUP54 was set to AMBER
Added comment: From PMID: 36333996.; Harrer, P. et al. (2022) Ann Neurol. doi: 10.1002/ana.26544.

Three patients from unrelated families with dystonia and/or Leigh(-like) syndromes, with biallelic variants in NUP54, in the C-terminal protein region that interacts with NUP62. Onset was between 12 months and 5 years. All had progressive neurological deterioration with dystonia, ataxia, dysarthria, dysphagia, hypotonia.

Patient / Family A (consanguineous) was homozygous for c.1073T>G p.(Ile358Ser).

Patient / Family B was compound heterozygous for c.1073T>G p.(Ile358Ser) and c.1126A>G p.(Lys376Glu).

Patient / Family C was compound heterozygosity for c.1410_1412del p.(Gln471del) and two missense variants c.1414G>A, p.(Glu472Lys); c.1420C>T, p.(Leu474Phe)

The phenotypes were similar to those of NUP62 including early-onset dystonia with dysphagic choreoathetosis, and T2-hyperintense lesions in striatum.

Brain MRIs showed T2/FLAIR hyperintensities in the dorsal putamina.

Western blots showing reduced expression of NUP54 and its interaction partners NUP62/NUP58 in patient fibroblasts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5059 GABRA3 Alison Yeung Classified gene: GABRA3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5059 GABRA3 Alison Yeung Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.513 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Mendeliome v1.513 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.513 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Mendeliome v1.512 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.512 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Mendeliome v1.512 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.137 EMILIN1 Karina Sandoval changed review comment from: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures; to: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Mendeliome v1.511 DCLRE1B Manny Jacobs reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10699141, 20479256, 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Marked gene: ARF3 as ready
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5058 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Aortopathy_Connective Tissue Disorders v1.73 EMILIN1 Karina Sandoval gene: EMILIN1 was added
gene: EMILIN1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature
Mode of inheritance for gene: EMILIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EMILIN1 were set to PMID: 36351433
Phenotypes for gene: EMILIN1 were set to Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related
Review for gene: EMILIN1 was set to GREEN
Added comment: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Sources: Literature
Mendeliome v1.511 NPC1 Naomi Baker gene: NPC1 was added
gene: NPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 36417180
Phenotypes for gene: NPC1 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: NPC1 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Genetic Epilepsy v0.1809 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5057 ARF3 Zornitza Stark Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system
Intellectual disability syndromic and non-syndromic v0.5057 EPRS Alison Yeung Classified gene: EPRS as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5057 EPRS Alison Yeung Gene: eprs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5056 ARF3 Zornitza Stark Publications for gene: ARF3 were set to 34346499
Intellectual disability syndromic and non-syndromic v0.5055 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5055 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5054 ARF3 Zornitza Stark Classified gene: ARF3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5054 ARF3 Zornitza Stark Gene: arf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.848 MPC2 Naomi Baker gene: MPC2 was added
gene: MPC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mendeliome v1.511 EMILIN1 Zornitza Stark Publications for gene: EMILIN1 were set to PMID: 31978608; 26462740.
Mendeliome v1.510 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Neuronopathy, distal hereditary motor, type X, MIM# 620080 to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Aortic aneurysm, MONDO:0005160, EMILIN2-related
Mendeliome v1.509 EMILIN1 Zornitza Stark Mode of inheritance for gene: EMILIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.508 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Green List (high evidence)
Mendeliome v1.508 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Genetic Epilepsy v0.1809 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Marked gene: SHROOM4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features.
Review for gene: TCEAL1 was set to GREEN
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.127 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1808 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 35663265
Phenotypes for gene: SHROOM4 were set to epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579
Review for gene: SHROOM4 was set to GREEN
Added comment: Six unrelated cases with idiopathic epilepsy without intellectual disability. SHROOM4 variants were all missense variants and were located around the N-terminal PDZ domain and the C-terminal ASD2 domain
Sources: Literature
Mendeliome v1.507 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Marked gene: GABRA3 as ready
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1807 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5053 ARF3 Dean Phelan reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36369169, 34346499; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), ARF3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1806 GABRA3 Zornitza Stark Phenotypes for gene: GABRA3 were changed from Epilepsy, intellectual disability, dysmorphic features, to Neurodevelopmental disorder, MONDO:0700092, GABRA3-related; Epilepsy, intellectual disability, dysmorphic features,
Hereditary Neuropathy - complex v0.137 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.125 SHROOM4 Alison Yeung gene: SHROOM4 was added
gene: SHROOM4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 36379543
Phenotypes for gene: SHROOM4 were set to Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Review for gene: SHROOM4 was set to GREEN
Added comment: Six individuals from four unrelated families with CAKUT. Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Variants included one missense, one splice variant and two CNVs (deletions).
Sources: Literature
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1805 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Mendeliome v1.507 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABRA3 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: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Classified gene: GABRA3 as Green List (high evidence)
Genetic Epilepsy v0.1804 GABRA3 Zornitza Stark Gene: gabra3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 EPRS Lucy Spencer gene: EPRS was added
gene: EPRS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217, 36411955
Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15 (MIM#617951)
Review for gene: EPRS was set to GREEN
Added comment: 5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 2 with micrcephaly, 1 noted to have some facial dysmorphism.
Sources: Literature
Fetal anomalies v1.79 KDM2B Ain Roesley Marked gene: KDM2B as ready
Fetal anomalies v1.79 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GABRA3 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: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Fetal anomalies v1.79 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Fetal anomalies v1.79 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.507 TCEAL1 Zornitza Stark Marked gene: TCEAL1 as ready
Mendeliome v1.507 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Fetal anomalies v1.78 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)

14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency
Sources: Literature
Mendeliome v1.507 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features. to Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Fetal anomalies v1.77 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Fetal anomalies v1.77 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Fetal anomalies v1.76 SHROOM4 Alison Yeung reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36379543; Phenotypes: Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.506 TCEAL1 Zornitza Stark Classified gene: TCEAL1 as Green List (high evidence)
Mendeliome v1.506 TCEAL1 Zornitza Stark Gene: tceal1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.269 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Congenital Heart Defect v0.269 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1803 GABRA3 Sarah Pantaleo gene: GABRA3 was added
gene: GABRA3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRA3 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: GABRA3 were set to PMID: 29053855
Phenotypes for gene: GABRA3 were set to Epilepsy, intellectual disability, dysmorphic features,
Penetrance for gene: GABRA3 were set to Incomplete
Review for gene: GABRA3 was set to GREEN
Added comment: Six variants in GABRA3 encoding the alpha3-subunit of the GABA(A) receptor.
Five missense variants and one micro duplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies.
Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype.
Mechanism suggested - three detected missense variants are localised in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the alpha3-subunit. Functional studies in Xenopus leaves oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype.
Results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
Sources: Literature
Congenital Heart Defect v0.269 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Congenital Heart Defect v0.269 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.505 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Mendeliome v1.505 SHROOM4 Alison Yeung Classified gene: SHROOM4 as Green List (high evidence)
Mendeliome v1.505 SHROOM4 Alison Yeung Gene: shroom4 has been classified as Green List (High Evidence).
Mendeliome v1.504 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital Heart Defect v0.268 KDM2B Ain Roesley Marked gene: KDM2B as ready
Congenital Heart Defect v0.268 KDM2B Ain Roesley Gene: kdm2b has been classified as Red List (Low Evidence).
Mendeliome v1.504 TCEAL1 Melanie Marty changed review comment from: 7 individuals (males and females) with de novo variants involving TCEAL1. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature; to: 7 individuals (males and females) with de novo variants involving TCEAL1 with an X-linked
dominant neurodevelopmental syndrome. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Congenital Heart Defect v0.268 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)

14 families with SNVs and a variety of cardiac anomalies including ASD, VSD, MR, PDA, PFO, Atrial septal aneurysm and Mild mitral insufficiency
Sources: Literature
Mitochondrial disease v0.848 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.848 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Marked gene: UQCRH as ready
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mendeliome v1.504 SHROOM4 Alison Yeung reviewed gene: SHROOM4: Rating: GREEN; Mode of pathogenicity: None; Publications: 36379543, 35663265; Phenotypes: Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719, epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.504 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Mitochondrial disease v0.847 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Marked gene: FEM1C as ready
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Classified gene: FEM1C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5053 FEM1C Zornitza Stark Gene: fem1c has been classified as Green List (High Evidence).
Mendeliome v1.504 FEM1C Paul De Fazio gene: FEM1C was added
gene: FEM1C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168
Phenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092
Review for gene: FEM1C was set to GREEN
gene: FEM1C was marked as current diagnostic
Added comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.

An alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).

The Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.

Borderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance.
Sources: Literature
Periventricular Grey Matter Heterotopia v1.1 ARF1 Daniel Flanagan reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36345169; Phenotypes: Periventricular nodular heterotopia 8 (MIM#618185); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.504 TCEAL1 Melanie Marty gene: TCEAL1 was added
gene: TCEAL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to PMID: 36368327
Phenotypes for gene: TCEAL1 were set to hypotonia, abnormal gait, developmental delay, intellectual disability, autism, dysmorphic facial features.
Review for gene: TCEAL1 was set to GREEN
Added comment: 7 individuals (males and females) with de novo variants involving TCEAL1. Individuals had hypotonia, abnormal gait, developmental delay/intellectual disability especially affecting expressive language, autistic-like behavior, and mildly dysmorphic facial features. Additional features included strabismus, refractive errors, variable nystagmus, gastroesophageal reflux, constipation, dysmotility, recurrent infections, seizures, and structural brain anomalies.

1 additional male individual with a maternally inherited missense variant (unaffected mother), which was considered a VUS. This individual had hypertonia and spasticity without syndromic features.

4 PTCs, 2 CNVs, 2 missense reported.
Sources: Literature
Mitochondrial disease v0.846 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5052 FEM1C Paul De Fazio gene: FEM1C was added
gene: FEM1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956; 28135719; 33398170; 33398168
Phenotypes for gene: FEM1C were set to Neurodevelopmental disorder, FEM1C-related MONDO:0700092
Review for gene: FEM1C was set to GREEN
gene: FEM1C was marked as current diagnostic
Added comment: PMID:36336956 describes a 9-year-old boy with severe DD, lack of speech, pyramidal signs, and limb ataxia who had a de novo missense variant Asp126His in FEM1C ascertained by WES. The equivalent variant introduced into the nematode C.elegans resulted in disabled locomotion caused by synaptic abnormalities and not muscle dysfunction.

An alternate change Asp126Val was reported in the DDD study de novo in a patient with uncharacterised developmental delay (PMID:28135719).

The Asp126 residue (but not either of the variants above specifically) was shown to be functionally important by in vitro studies (PMID:33398170;33398168). The residue is highly conserved and located in a region of missense constraint.

Borderline green, 2 patients and an animal model. Note all evidence points to the Asp126 residue being of specific importance.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5052 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5052 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Marked gene: KDM2B as ready
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5051 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5050 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Mendeliome v1.504 KDM2B Ain Roesley changed review comment from: 27 individuals from 22 families were recruited
12 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature; to: 27 individuals from 22 families were recruited
13 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5049 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only
Sources: Literature
Mendeliome v1.504 KDM2B Ain Roesley Marked gene: KDM2B as ready
Mendeliome v1.504 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.504 KDM2B Ain Roesley Classified gene: KDM2B as Green List (high evidence)
Mendeliome v1.504 KDM2B Ain Roesley Gene: kdm2b has been classified as Green List (High Evidence).
Mendeliome v1.503 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Mendeliome v1.503 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Marked gene: MAN2A2 as ready
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark Gene: man2a2 has been classified as Red List (Low Evidence).
Mendeliome v1.503 KDM2B Ain Roesley gene: KDM2B was added
gene: KDM2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#070009, KDM2B-related
Review for gene: KDM2B was set to GREEN
gene: KDM2B was marked as current diagnostic
Added comment: 27 individuals from 22 families were recruited
12 SNV classified LP/P, all de novo except 2 familial cases
5 variants were classified as VUS if more than 1 het is present in gnomAD or does result in a KDM2B-specific episignature (therefore suggesting normal function)
Sources: Literature
Mendeliome v1.502 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Congenital Disorders of Glycosylation v1.29 MAN2A2 Zornitza Stark gene: MAN2A2 was added
gene: MAN2A2 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
Review for gene: MAN2A2 was set to RED
Added comment: Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Marked gene: CDK10 as ready
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Gene: cdk10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5048 CDK10 Zornitza Stark Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694
Intellectual disability syndromic and non-syndromic v0.5047 CDK10 Zornitza Stark Publications for gene: CDK10 were set to
Intellectual disability syndromic and non-syndromic v0.5046 CDK10 Zornitza Stark Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5045 CDK10 Zornitza Stark reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5045 EXOSC3 Zornitza Stark Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, MIM# 614678
Intellectual disability syndromic and non-syndromic v0.5044 EXOSC3 Zornitza Stark Publications for gene: EXOSC3 were set to
Intellectual disability syndromic and non-syndromic v0.5043 EXOSC3 Zornitza Stark Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5042 EXOSC3 Zornitza Stark reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Marked gene: ARPC4 as ready
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Classified gene: ARPC4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5042 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5041 ARPC4 Zornitza Stark gene: ARPC4 was added
gene: ARPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). 6/7 affected individuals had microcephaly. The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Microcephaly v1.172 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Mendeliome v1.501 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Neurodevelopmental disorder, ARPC4-related MONDO#0700092 to Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Mendeliome v1.500 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed phenotypes: Developmental delay, language impairment, and ocular abnormalities, MIM# 620141
Rhabdomyolysis and Metabolic Myopathy v0.91 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Rhabdomyolysis and Metabolic Myopathy v0.90 MLIP Zornitza Stark reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.500 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Mendeliome v1.499 MLIP Zornitza Stark reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.1 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital
Renal Tubulopathies and related disorders v0.0 Chirag Patel Added panel Renal Tubulopathies and related disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 REN Chirag Patel Classified gene: REN as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 REN Chirag Patel Gene: ren has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 AGTR1 Chirag Patel Classified gene: AGTR1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 AGTR1 Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.121 AGTR1 Chirag Patel gene: AGTR1 was added
gene: AGTR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to PMID: 16116425
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGTR1 was set to GREEN
Added comment: Three unrelated families reported.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 REN Chirag Patel gene: REN was added
gene: REN was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REN were set to PMID: 16116425
Phenotypes for gene: REN were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: REN was set to GREEN
Added comment: Well established gene disease association.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 AGT Chirag Patel Classified gene: AGT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 AGT Chirag Patel Gene: agt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.119 AGT Chirag Patel gene: AGT was added
gene: AGT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 16116425, 34234805, 33163725
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGT was set to GREEN
Added comment: Well established gene-disease association, more than 10 unrelated families reported.

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 ACE Chirag Patel Classified gene: ACE as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 ACE Chirag Patel Gene: ace has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.117 ACE Chirag Patel gene: ACE was added
gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACE were set to PMID: 16116425, 22095942
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: ACE was set to GREEN
Added comment: Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. More than 60 families reported.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods.
Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration, with functional effects of the mutation reproduced with knocked down endogenous expression of exosc3 in zebrafish embryos and subsequent rescue of the phenotype by co-injection with wild-type zebrafish exosc3 mRNA.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across varying degrees of severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang Deleted their comment
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang edited their review of gene: EXOSC3: Added comment: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.; Changed phenotypes: Cerebellar atrophy, Developmental delay, Lower motor neuron degeneration, Upper motor neuron features, Spasticity/hyperreflexia (+/-)
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang changed review comment from: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy. Variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment (to varying degrees) reported in all cases across various severity.; to: Association with global developmental delay, hypotonia, hyperreflexia, cerebellar (+/- pontine) atrophy with variable severity. Assessment of cognitive function/IQ limited by motor and speech impairments. Severe forms associated with early deaths during infancy periods. Intellectual impairment/psychomotor retardation (to varying degrees) reported in all cases across various severity (23284067). Zanni et al (23975261) identified 2 individuals with compound heterozygous mutations resulting in intellectual impairment and early onset spasticity. Wan et al (22544365) described global developmental delay in addition to cerebellar features and spinal motor degeneration.
Intellectual disability syndromic and non-syndromic v0.5040 EXOSC3 Michelle Dang reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 23284067; Phenotypes: 23284067, 25149867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.57 EXOSC3 Michelle Dang reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23975261, 25149867, 24524299; Phenotypes: 24524299, 23284067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5040 CDK10 Lyndon Gallacher reviewed gene: CDK10: Rating: ; Mode of pathogenicity: None; Publications: 28886341; Phenotypes: Severe growth retardation, spine malformation, facial dysmorphisms, developmental delay, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Classified gene: SLC25A19 as Green List (high evidence)
BabyScreen+ newborn screening v0.1154 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1153 SLC25A19 Zornitza Stark Tag for review was removed from gene: SLC25A19.
Tag treatable tag was added to gene: SLC25A19.
Tag metabolic tag was added to gene: SLC25A19.
BabyScreen+ newborn screening v0.1153 SLC25A19 Zornitza Stark reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1153 SLC18A2 Zornitza Stark Tag for review was removed from gene: SLC18A2.
Tag treatable tag was added to gene: SLC18A2.
Tag neurological tag was added to gene: SLC18A2.
BabyScreen+ newborn screening v0.1153 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
BabyScreen+ newborn screening v0.1152 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
BabyScreen+ newborn screening v0.1152 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1151 SLC25A13 Zornitza Stark reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1151 SLC25A13 Zornitza Stark Tag metabolic tag was added to gene: SLC25A13.
BabyScreen+ newborn screening v0.1151 TSHR Zornitza Stark Tag for review was removed from gene: TSHR.
Tag treatable tag was added to gene: TSHR.
Tag endocrine tag was added to gene: TSHR.
BabyScreen+ newborn screening v0.1151 TSHR Zornitza Stark reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1151 COL11A1 Zornitza Stark Tag for review was removed from gene: COL11A1.
Tag ophthalmological tag was added to gene: COL11A1.
BabyScreen+ newborn screening v0.1151 COL11A1 Zornitza Stark changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment

For review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome.

There is some genotype-phenotype correlation.

Treatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years.

Discussed with ophthalmology: would start glaucoma surveillance in first year of life.
BabyScreen+ newborn screening v0.1151 COL2A1 Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment.

For review.; to: Variants in this gene are associated with a range of skeletal phenotypes.

Onset and severity can be variable.

Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years.

Discussed with ophthalmology, would start glaucoma surveillance in the first year of life.
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Marked gene: SLC25A15 as ready
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Gene: slc25a15 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1151 SLC25A15 Seb Lunke Publications for gene: SLC25A15 were set to
BabyScreen+ newborn screening v0.1150 SLC25A15 Seb Lunke reviewed gene: SLC25A15: Rating: ; Mode of pathogenicity: None; Publications: 22649802; Phenotypes: Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Marked gene: SLC25A13 as ready
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1150 SLC25A13 Seb Lunke Phenotypes for gene: SLC25A13 were changed from Citrullinemia, MIM#605814 to Citrullinemia, type II, neonatal-onset, MIM# 605814
BabyScreen+ newborn screening v0.1149 SLC25A13 Seb Lunke Classified gene: SLC25A13 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1149 SLC25A13 Seb Lunke Gene: slc25a13 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1148 SLC25A13 Seb Lunke Tag for review tag was added to gene: SLC25A13.
BabyScreen+ newborn screening v0.1148 SLC25A13 Seb Lunke reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301360; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5040 DOCK8 Chirag Patel Classified gene: DOCK8 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5040 DOCK8 Chirag Patel Gene: dock8 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5039 DOCK8 Chirag Patel reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29930340; Phenotypes: ; Mode of inheritance: None
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Marked gene: HECTD4 as ready
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Classified gene: HECTD4 as Green List (high evidence)
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.5 HECTD4 Zornitza Stark gene: HECTD4 was added
gene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Marked gene: HECTD4 as ready
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5039 HECTD4 Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Intellectual disability syndromic and non-syndromic v0.5038 HECTD4 Zornitza Stark reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, HECTD4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Classified gene: UBE3C as Green List (high evidence)
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.3 UBE3C Zornitza Stark gene: UBE3C was added
gene: UBE3C was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5038 UBE3C Zornitza Stark Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Intellectual disability syndromic and non-syndromic v0.5037 UBE3C Zornitza Stark reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.499 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Mendeliome v1.499 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Mendeliome v1.499 UBE3C Zornitza Stark Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Mendeliome v1.498 UBE3C Zornitza Stark reviewed gene: UBE3C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBE3C-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1148 SLC25A19 Seb Lunke gene: SLC25A19 was added
gene: SLC25A19 was added to gNBS. Sources: Literature
for review tags were added to gene: SLC25A19.
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 31095747
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Review for gene: SLC25A19 was set to AMBER
Added comment: Established gene-disease association.

Onset of acute encephalopathic attacks in childhood (3 to 7 years) often after febrile illness, full recovery after attacks. Onset of chronic progressive polyneuropathy in late childhood.

Treatment: 5 patients treated with thiamine supplementation, which led to a substantial improvement in peripheral neuropathy and gait in early treated patients

Non-genetic confirmatory test: No
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5037 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Intellectual disability syndromic and non-syndromic v0.5036 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.182 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Polymicrogyria and Schizencephaly v0.181 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.498 KIF26A Zornitza Stark Marked gene: KIF26A as ready
Mendeliome v1.498 KIF26A Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence).
Mendeliome v1.498 KIF26A Zornitza Stark Phenotypes for gene: KIF26A were changed from Congenital brain malformations, no OMIM # to Cerebral malformation MONDO:0016054, KIF26-related
Mendeliome v1.497 KIF26A Zornitza Stark reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral malformation MONDO:0016054, KIF26-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.31 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121
Metal Metabolism Disorders v0.30 BMP6 Zornitza Stark edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121
Mendeliome v1.497 BMP6 Zornitza Stark Phenotypes for gene: BMP6 were changed from Iron overload, mild to moderate to {Iron overload, susceptibility to} 620121
Mendeliome v1.496 BMP6 Zornitza Stark edited their review of gene: BMP6: Changed phenotypes: {Iron overload, susceptibility to} 620121
BabyScreen+ newborn screening v0.1147 HAX1 Zornitza Stark Marked gene: HAX1 as ready
BabyScreen+ newborn screening v0.1147 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1147 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
BabyScreen+ newborn screening v0.1146 HAX1 Zornitza Stark Tag treatable tag was added to gene: HAX1.
Tag haematological tag was added to gene: HAX1.
BabyScreen+ newborn screening v0.1146 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1146 HARS2 Zornitza Stark Marked gene: HARS2 as ready
BabyScreen+ newborn screening v0.1146 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1146 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome; autosomal recessive sensorineural hearing loss to Perrault syndrome 2, MIM# 614926
BabyScreen+ newborn screening v0.1145 HARS2 Zornitza Stark Classified gene: HARS2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1145 HARS2 Zornitza Stark Gene: hars2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1144 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1144 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
BabyScreen+ newborn screening v0.1144 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1144 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
BabyScreen+ newborn screening v0.1143 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
BabyScreen+ newborn screening v0.1142 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
BabyScreen+ newborn screening v0.1142 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1141 TREX1 Zornitza Stark reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1141 TREX1 Zornitza Stark Marked gene: TREX1 as ready
BabyScreen+ newborn screening v0.1141 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1141 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1 to Aicardi-Goutieres syndrome 1 MIM#225750
BabyScreen+ newborn screening v0.1140 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
BabyScreen+ newborn screening v0.1139 TREX1 Zornitza Stark Classified gene: TREX1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1139 TREX1 Zornitza Stark Gene: trex1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1138 TREX1 Zornitza Stark Tag for review tag was added to gene: TREX1.
Tag treatable tag was added to gene: TREX1.
Tag neurological tag was added to gene: TREX1.
BabyScreen+ newborn screening v0.1138 TPP1 Zornitza Stark Tag for review tag was added to gene: TPP1.
Tag treatable tag was added to gene: TPP1.
Tag metabolic tag was added to gene: TPP1.
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Marked gene: TRAPPC2 as ready
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1138 TRAPPC2 Zornitza Stark Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda to Spondyloepiphyseal dysplasia tarda MIM#313400
BabyScreen+ newborn screening v0.1137 TRAPPC2 Zornitza Stark Publications for gene: TRAPPC2 were set to
BabyScreen+ newborn screening v0.1136 TRAPPC2 Zornitza Stark Classified gene: TRAPPC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1136 TRAPPC2 Zornitza Stark Gene: trappc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1135 TPP1 Zornitza Stark Marked gene: TPP1 as ready
BabyScreen+ newborn screening v0.1135 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1135 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)
BabyScreen+ newborn screening v0.1134 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
BabyScreen+ newborn screening v0.1133 TPO Zornitza Stark Marked gene: TPO as ready
BabyScreen+ newborn screening v0.1133 TPO Zornitza Stark Gene: tpo has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1133 TPO Zornitza Stark Phenotypes for gene: TPO were changed from Thyroid dyshormonogenesis 2A to Thyroid dyshormonogenesis 2A MIM#274500
BabyScreen+ newborn screening v0.1132 TPO Zornitza Stark Tag treatable tag was added to gene: TPO.
Tag endocrine tag was added to gene: TPO.
BabyScreen+ newborn screening v0.1132 HADH Zornitza Stark Marked gene: HADH as ready
BabyScreen+ newborn screening v0.1132 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1132 HADH Zornitza Stark Phenotypes for gene: HADH were changed from Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
BabyScreen+ newborn screening v0.1131 HADH Zornitza Stark Tag treatable tag was added to gene: HADH.
Tag metabolic tag was added to gene: HADH.
BabyScreen+ newborn screening v0.1131 HADH Zornitza Stark reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1131 GOT2 Zornitza Stark Marked gene: GOT2 as ready
BabyScreen+ newborn screening v0.1131 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1131 GOT2 Zornitza Stark Tag treatable tag was added to gene: GOT2.
Tag neurological tag was added to gene: GOT2.
BabyScreen+ newborn screening v0.1131 GOT2 Zornitza Stark reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1131 GPC3 Zornitza Stark Marked gene: GPC3 as ready
BabyScreen+ newborn screening v0.1131 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1131 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
BabyScreen+ newborn screening v0.1130 GPC3 Zornitza Stark Classified gene: GPC3 as Red List (low evidence)
BabyScreen+ newborn screening v0.1130 GPC3 Zornitza Stark Gene: gpc3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1129 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1129 GPR143 Zornitza Stark Marked gene: GPR143 as ready
BabyScreen+ newborn screening v0.1129 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1129 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500
BabyScreen+ newborn screening v0.1128 GPR143 Zornitza Stark Classified gene: GPR143 as Red List (low evidence)
BabyScreen+ newborn screening v0.1128 GPR143 Zornitza Stark Gene: gpr143 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1127 GPR143 Zornitza Stark reviewed gene: GPR143: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1127 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
BabyScreen+ newborn screening v0.1127 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1127 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome MIM#604213
BabyScreen+ newborn screening v0.1126 GPSM2 Zornitza Stark Classified gene: GPSM2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1126 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1125 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1125 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
BabyScreen+ newborn screening v0.1125 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1125 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Autosomal dominant hearing loss, MIM# 608641 to Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
BabyScreen+ newborn screening v0.1124 GRHL2 Zornitza Stark Mode of inheritance for gene: GRHL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1123 GRHL2 Zornitza Stark Classified gene: GRHL2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1123 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1122 GRHL2 Zornitza Stark reviewed gene: GRHL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029, Corneal dystrophy, posterior polymorphous, 4, MIM# 618031, Deafness, autosomal dominant 28, MIM# 608641; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1122 GRHPR Zornitza Stark Phenotypes for gene: GRHPR were changed from Hyperoxaluria, primary, type II to Hyperoxaluria, primary, type II, MIM# 260000
BabyScreen+ newborn screening v0.1121 TPO Lilian Downie reviewed gene: TPO: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 15863666; Phenotypes: Thyroid dyshormonogenesis 2A MIM#274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1121 TPP1 Lilian Downie reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32684372, PMID: 31884868, PMID: 30470609, PMID: 33882967; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1121 TRAPPC2 Lilian Downie reviewed gene: TRAPPC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301324; Phenotypes: Spondyloepiphyseal dysplasia tarda MIM#313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1121 TREX1 Lilian Downie reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301648, PMID: 32877590; Phenotypes: Aicardi-Goutieres syndrome 1 MIM#225750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1121 TRIM32 Lilian Downie reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21496629, PMID: 23142638; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5036 UBE3C Chirag Patel Classified gene: UBE3C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5036 UBE3C Chirag Patel Gene: ube3c has been classified as Green List (High Evidence).
Mendeliome v1.496 UBE3C Chirag Patel Classified gene: UBE3C as Green List (high evidence)
Mendeliome v1.496 UBE3C Chirag Patel Gene: ube3c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5035 UBE3C Chirag Patel gene: UBE3C was added
gene: UBE3C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to PMID: 36401616
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.495 UBE3C Chirag Patel gene: UBE3C was added
gene: UBE3C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to PMID: 36401616
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5034 HECTD4 Chirag Patel Classified gene: HECTD4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5034 HECTD4 Chirag Patel Gene: hectd4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5033 HECTD4 Chirag Patel gene: HECTD4 was added
gene: HECTD4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.494 HECTD4 Chirag Patel Classified gene: HECTD4 as Green List (high evidence)
Mendeliome v1.494 HECTD4 Chirag Patel Gene: hectd4 has been classified as Green List (High Evidence).
Mendeliome v1.493 HECTD4 Chirag Patel gene: HECTD4 was added
gene: HECTD4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to PMID: 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder overlapping Angelman syndrome, no OMIM#
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Mendeliome v1.492 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Mendeliome v1.492 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Mendeliome v1.491 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.181 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.180 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5032 KIF26A Chirag Patel Classified gene: KIF26A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5032 KIF26A Chirag Patel Gene: kif26a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5031 KIF26A Chirag Patel gene: KIF26A was added
gene: KIF26A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to PMID: 36228617
Phenotypes for gene: KIF26A were set to Congenital brain malformations, no OMIM #
Review for gene: KIF26A was set to GREEN
Added comment: 5 unrelated patients with biallelic loss-of-function variants in KIF26A (found through WES), exhibiting a spectrum of congenital brain malformations (schizencephaly, corpus callosum anomalies, polymicrgyria, and ventriculomegaly). Combining mice and human iPSC-derived organoid models, they discovered that loss of KIF26A causes excitatory neuron-specific defects in radial migration, localization, dendritic and axonal growth, and apoptosis, offering a convincing explanation of the disease etiology in patients. Single-cell RNA sequencing in KIF26A knockout organoids revealed transcriptional changes in MAPK, MYC, and E2F pathways.
Sources: Literature
Calcium and Phosphate disorders v0.76 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital
Hypertension and Aldosterone disorders v1.12 Chirag Patel Panel name changed from Renal Hypertension and Disorders of Aldosterone Metabolism to Hypertension and Aldosterone disorders
Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Genetic Health Queensland
Calcium and Phosphate disorders v0.74 Chirag Patel Panel name changed from Renal abnormalities of calcium and phosphate metabolism to Calcium and Phosphate disorders
Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland
Calcium and Phosphate disorders v0.73 TBCE Chirag Patel Classified gene: TBCE as Green List (high evidence)
Calcium and Phosphate disorders v0.73 TBCE Chirag Patel Gene: tbce has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.72 TBCE Chirag Patel gene: TBCE was added
gene: TBCE was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Literature
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to PMID: 27666369
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Review for gene: TBCE was set to GREEN
Added comment: HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay
Sources: Literature
BabyScreen+ newborn screening v0.1121 GRHPR Zornitza Stark Marked gene: GRHPR as ready
BabyScreen+ newborn screening v0.1121 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1121 GRHPR Zornitza Stark Tag treatable tag was added to gene: GRHPR.
Tag clinical trial tag was added to gene: GRHPR.
Tag metabolic tag was added to gene: GRHPR.
BabyScreen+ newborn screening v0.1121 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.71 GATM Chirag Patel Classified gene: GATM as Green List (high evidence)
Calcium and Phosphate disorders v0.71 GATM Chirag Patel Gene: gatm has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.70 GATM Chirag Patel gene: GATM was added
gene: GATM was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATM were set to PMID: 29654216
Phenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600
Review for gene: GATM was set to GREEN
Added comment: 28 individuals from five unrelated families with renal phenotype and mono-allelic variants reported. Can show hypophosphatemic rickets, phosphaturia, and hypophosphatemia
Sources: Expert list
BabyScreen+ newborn screening v0.1121 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
BabyScreen+ newborn screening v0.1121 GRXCR1 Zornitza Stark Gene: grxcr1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1121 GRXCR1 Zornitza Stark edited their review of gene: GRXCR1: Changed rating: GREEN
BabyScreen+ newborn screening v0.1121 GRXCR1 Zornitza Stark reviewed gene: GRXCR1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1121 GSS Zornitza Stark Marked gene: GSS as ready
BabyScreen+ newborn screening v0.1121 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1121 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency to Glutathione synthetase deficiency, MIM# 266130; Haemolytic anemia due to glutathione synthetase deficiency 231900
BabyScreen+ newborn screening v0.1120 GSS Zornitza Stark Classified gene: GSS as Red List (low evidence)
BabyScreen+ newborn screening v0.1120 GSS Zornitza Stark Gene: gss has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1119 GSS Zornitza Stark reviewed gene: GSS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1119 GUSB Zornitza Stark Marked gene: GUSB as ready
BabyScreen+ newborn screening v0.1119 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.69 SLC12A1 Chirag Patel Classified gene: SLC12A1 as Green List (high evidence)
Calcium and Phosphate disorders v0.69 SLC12A1 Chirag Patel Gene: slc12a1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.68 SLC12A1 Chirag Patel gene: SLC12A1 was added
gene: SLC12A1 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A1 were set to PMID: 8640224, 9355073, 28095294
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678
Review for gene: SLC12A1 was set to GREEN
Added comment: Hypercalciuria and hypercalcemia seen in patients.
Sources: Expert list
Calcium and Phosphate disorders v0.67 PTH Chirag Patel Classified gene: PTH as Green List (high evidence)
Calcium and Phosphate disorders v0.67 PTH Chirag Patel Gene: pth has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.66 PTH Chirag Patel gene: PTH was added
gene: PTH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH were set to PMID: 2212001, 1302009, 10523031, 35165722, 32421798
Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200
Review for gene: PTH was set to GREEN
Added comment: Multiple unrelated families reported with either mono- or bi-allelic variants in this gene and hypoparathyroidism.
Sources: Expert list
Calcium and Phosphate disorders v0.65 GATA3 Chirag Patel Classified gene: GATA3 as Green List (high evidence)
Calcium and Phosphate disorders v0.65 GATA3 Chirag Patel Gene: gata3 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.64 GATA3 Chirag Patel gene: GATA3 was added
gene: GATA3 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to PMID: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Review for gene: GATA3 was set to GREEN
Added comment: HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Well established association.
Sources: Expert list
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Classified gene: AIRE as Green List (high evidence)
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Classified gene: AIRE as Green List (high evidence)
Calcium and Phosphate disorders v0.63 AIRE Chirag Patel Gene: aire has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.62 AIRE Chirag Patel gene: AIRE was added
gene: AIRE was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AIRE were set to PMID: 35521792
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Review for gene: AIRE was set to GREEN
Added comment: Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). However, variable APS1 phenotypes have been observed, even among sibs. In addition, some patients may exhibit apparent isolated hypoparathyroidism, an early manifestation of APS1 with peak incidence at around age 5 years; over longterm follow-up, the development of additional features of APS1 may be observed
Sources: Expert list
Calcium and Phosphate disorders v0.61 CTNS Chirag Patel Classified gene: CTNS as Green List (high evidence)
Calcium and Phosphate disorders v0.61 CTNS Chirag Patel Gene: ctns has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.60 CTNS Chirag Patel gene: CTNS was added
gene: CTNS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to PMID: 20301574, 9537412, 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Review for gene: CTNS was set to GREEN
Added comment: Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert list
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Classified gene: OCRL as Green List (high evidence)
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Gene: ocrl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Classified gene: OCRL as Green List (high evidence)
Calcium and Phosphate disorders v0.59 OCRL Chirag Patel Gene: ocrl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.58 OCRL Chirag Patel gene: OCRL was added
gene: OCRL was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: OCRL 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: OCRL were set to PMID: 19773212, 27625797
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000; Dent disease 2, MIM #300555
Review for gene: OCRL was set to GREEN
Added comment: Hyperphosphaturia and rickets seen in condition
Sources: Expert list
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Classified gene: CLCN5 as Green List (high evidence)
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Gene: clcn5 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Classified gene: CLCN5 as Green List (high evidence)
Calcium and Phosphate disorders v0.57 CLCN5 Chirag Patel Gene: clcn5 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.56 CLCN5 Chirag Patel gene: CLCN5 was added
gene: CLCN5 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CLCN5 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: CLCN5 were set to PMID: 8559248, 9596078
Phenotypes for gene: CLCN5 were set to Hypophosphatemic rickets, MIM# 300554; Hypophosphatemic rickets, MIM# 300554
Review for gene: CLCN5 was set to GREEN
Added comment: Well established association
Sources: Expert list
Mitochondrial disease v0.846 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.845 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.844 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.490 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mendeliome v1.489 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Marked gene: FAH as ready
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Calcium and Phosphate disorders v0.55 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Calcium and Phosphate disorders v0.54 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 ALPL Zornitza Stark Marked gene: ALPL as ready
Calcium and Phosphate disorders v0.54 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 RET Zornitza Stark Marked gene: RET as ready
Calcium and Phosphate disorders v0.54 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 MEN1 Zornitza Stark Marked gene: MEN1 as ready
Calcium and Phosphate disorders v0.54 MEN1 Zornitza Stark Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.54 CDKN1B Zornitza Stark Marked gene: CDKN1B as ready
Calcium and Phosphate disorders v0.54 CDKN1B Zornitza Stark Gene: cdkn1b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1119 GCM2 Zornitza Stark Marked gene: GCM2 as ready
BabyScreen+ newborn screening v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1119 GCM2 Zornitza Stark Classified gene: GCM2 as Green List (high evidence)
BabyScreen+ newborn screening v0.1119 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1118 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to gNBS. Sources: Expert Review
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to 27745835; 20190276; 34967908; 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Review for gene: GCM2 was set to GREEN
Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism.

Variable age of onset.

Treatment for hypoPTH: calcium carbonate, calcitriol. HyperPTH: surgery?

Non-genetic confirmatory tests: calcium, phosphate, parathyroid hormone
Sources: Expert Review
Calcium and Phosphate disorders v0.54 GCM2 Zornitza Stark Marked gene: GCM2 as ready
Calcium and Phosphate disorders v0.54 GCM2 Zornitza Stark Gene: gcm2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1117 GUSB Zornitza Stark Tag for review tag was added to gene: GUSB.
Tag treatable tag was added to gene: GUSB.
Tag metabolic tag was added to gene: GUSB.
BabyScreen+ newborn screening v0.1117 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1117 GYS2 Zornitza Stark Marked gene: GYS2 as ready
BabyScreen+ newborn screening v0.1117 GYS2 Zornitza Stark Gene: gys2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1117 GYS2 Zornitza Stark Phenotypes for gene: GYS2 were changed from Glycogen storage disease 0 to Glycogen storage disease 0, liver (MIM#240600)
BabyScreen+ newborn screening v0.1116 GYS2 Zornitza Stark Tag metabolic tag was added to gene: GYS2.
BabyScreen+ newborn screening v0.1116 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1116 GYS2 Zornitza Stark Tag treatable tag was added to gene: GYS2.
BabyScreen+ newborn screening v0.1116 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
BabyScreen+ newborn screening v0.1116 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1116 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from Mucolipidosis II to Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931
BabyScreen+ newborn screening v0.1115 GNPTAB Zornitza Stark Classified gene: GNPTAB as Red List (low evidence)
BabyScreen+ newborn screening v0.1115 GNPTAB Zornitza Stark Gene: gnptab has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1114 GNPTAB Zornitza Stark edited their review of gene: GNPTAB: Changed rating: RED
BabyScreen+ newborn screening v0.1114 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1114 GNE Zornitza Stark Marked gene: GNE as ready
BabyScreen+ newborn screening v0.1114 GNE Zornitza Stark Added comment: Comment when marking as ready: Check age of onset with neurology.
BabyScreen+ newborn screening v0.1114 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1114 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy to Nonaka myopathy, MIM# 605820
BabyScreen+ newborn screening v0.1113 GNE Zornitza Stark Tag for review tag was added to gene: GNE.
Tag neurological tag was added to gene: GNE.
BabyScreen+ newborn screening v0.1113 GNE Zornitza Stark Classified gene: GNE as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1113 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1112 GNE Zornitza Stark Classified gene: GNE as Red List (low evidence)
BabyScreen+ newborn screening v0.1112 GNE Zornitza Stark Gene: gne has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1111 GNE Zornitza Stark reviewed gene: GNE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy, MIM# 605820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1111 GJA1 Zornitza Stark Marked gene: GJA1 as ready
BabyScreen+ newborn screening v0.1111 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1111 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
BabyScreen+ newborn screening v0.1110 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1109 GJA1 Zornitza Stark Classified gene: GJA1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1109 GJA1 Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1108 GJA1 Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1108 GIPC3 Zornitza Stark Marked gene: GIPC3 as ready
BabyScreen+ newborn screening v0.1108 GIPC3 Zornitza Stark Gene: gipc3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1108 GIPC3 Zornitza Stark Phenotypes for gene: GIPC3 were changed from Hearing loss to Deafness, autosomal recessive 15, MIM# 601869
BabyScreen+ newborn screening v0.1107 GIPC3 Zornitza Stark reviewed gene: GIPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 15, MIM# 601869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1107 GLI3 Zornitza Stark Marked gene: GLI3 as ready
BabyScreen+ newborn screening v0.1107 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1107 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Polydactyly, postaxial, types A1 and B, MIM#174200; Greig cephalopolysyndactyly syndrome MIM#175700; Polydactyly, preaxial, type IV MIM#174700; Pallister-Hall syndrome MIM#146510
BabyScreen+ newborn screening v0.1106 GLI3 Zornitza Stark Classified gene: GLI3 as Red List (low evidence)
BabyScreen+ newborn screening v0.1106 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1105 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polydactyly, postaxial, types A1 and B, MIM#174200, Greig cephalopolysyndactyly syndrome MIM#175700, Polydactyly, preaxial, type IV MIM#174700, Pallister-Hall syndrome MIM#146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1105 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
BabyScreen+ newborn screening v0.1105 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1105 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from Crisponi syndrome to Cold-induced sweating syndrome 1, MIM# 272430
BabyScreen+ newborn screening v0.1104 CRLF1 Zornitza Stark Classified gene: CRLF1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1104 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1103 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM# 272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.54 FAH Chirag Patel gene: FAH was added
gene: FAH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Calcium and Phosphate disorders v0.54 FAH Chirag Patel gene: FAH was added
gene: FAH was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Calcium and Phosphate disorders v0.53 FAM20C Chirag Patel Classified gene: FAM20C as Green List (high evidence)
Calcium and Phosphate disorders v0.53 FAM20C Chirag Patel Gene: fam20c has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.52 FAM20C Chirag Patel gene: FAM20C was added
gene: FAM20C was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, MIM# 259775
Review for gene: FAM20C was set to GREEN
Added comment: Severe skeletal dysplasia where low phosphate is a feature.
Sources: Expert list
Calcium and Phosphate disorders v0.51 ALPL Chirag Patel Classified gene: ALPL as Green List (high evidence)
Calcium and Phosphate disorders v0.51 ALPL Chirag Patel Gene: alpl has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.50 ALPL Chirag Patel gene: ALPL was added
gene: ALPL was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, OMIM #241500; Hypophosphatasia, childhood, OMIM #241510; Hypophosphatasia, adult, OMIM # 146300; Odontohypophosphatasia, OMIM #146300
Review for gene: ALPL was set to GREEN
Added comment: Well established association with spectrum of disease severity.
Sources: Expert list
Calcium and Phosphate disorders v0.49 RET Chirag Patel Classified gene: RET as Green List (high evidence)
Calcium and Phosphate disorders v0.49 RET Chirag Patel Gene: ret has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.48 RET Chirag Patel gene: RET was added
gene: RET was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300
Review for gene: RET was set to GREEN
Added comment: Well established gene-disease association, hyperparathyroidism is a feature.
Sources: Expert list
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Classified gene: MEN1 as Green List (high evidence)
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Classified gene: MEN1 as Green List (high evidence)
Calcium and Phosphate disorders v0.47 MEN1 Chirag Patel Gene: men1 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.46 MEN1 Chirag Patel gene: MEN1 was added
gene: MEN1 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to PMID: 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Review for gene: MEN1 was set to GREEN
Added comment: Hypercalcaemia is a prominent feature of familial hyperparathyroidism that has been caused by MEN1 in at least 5 cases.
Sources: Expert list
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Classified gene: CDKN1B as Green List (high evidence)
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Classified gene: CDKN1B as Green List (high evidence)
Calcium and Phosphate disorders v0.45 CDKN1B Chirag Patel Gene: cdkn1b has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.44 CDKN1B Chirag Patel gene: CDKN1B was added
gene: CDKN1B was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to PMID: 24819502, 17030811, 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Review for gene: CDKN1B was set to GREEN
Added comment: Well established association - >3 families reported
Sources: Expert list
Calcium and Phosphate disorders v0.43 GCM2 Chirag Patel Classified gene: GCM2 as Green List (high evidence)
Calcium and Phosphate disorders v0.43 GCM2 Chirag Patel Gene: gcm2 has been classified as Green List (High Evidence).
Calcium and Phosphate disorders v0.42 GCM2 Chirag Patel gene: GCM2 was added
gene: GCM2 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to PMID: 27745835, 20190276, 34967908, 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Review for gene: GCM2 was set to GREEN
Added comment: Well established association. GoF for AD hyperparathyroidism, and LoF for AR hypoparathyroidism
Sources: Expert list
Mendeliome v1.489 PIGN Zornitza Stark edited their review of gene: PIGN: Added comment: Large cohort study of 21 new and review of 40 previously published cases in PMID 36322149

Biallelic-truncating variants were detected in 16 patients-10 with Fryns syndrome, 1 with MCAHS1, 2 with Fryns syndrome/MCAHS1, and 3 with neurologic phenotype. There was an increased risk of prenatal or neonatal death within this group (6 deaths were in utero or within 2 months of life; 6 pregnancies were terminated). Incidence of polyhydramnios, congenital anomalies (eg, diaphragmatic hernia), and dysmorphism was significantly increased. Biallelic missense or mixed genotype were reported in the remaining 45 cases-32 showed a neurologic phenotype and 12 had MCAHS1. No cases of diaphragmatic hernia or abdominal wall defects were seen in this group except patient 1 in which we found the missense variant p.Ser893Arg to result in functionally null alleles, suggesting the possibility of an undescribed functionally important region in the final exon.; Changed publications: 36322149; Changed phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563, Fryns syndrome
Mendeliome v1.489 PIGN Zornitza Stark Phenotypes for gene: PIGN were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563; Fryns syndrome
Mendeliome v1.488 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770; 33578420; 31332438
Mendeliome v1.487 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.486 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: PMID 36331550: further 31 individuals reported with mono-allelic variants. Three phenotypes observed:
1. DEE
2. Isolated DD/ID
3. HSP or ataxia; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523, 36331550
Intellectual disability syndromic and non-syndromic v0.5030 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770
Intellectual disability syndromic and non-syndromic v0.5029 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: Another 21 individuals reported in PMID 36331550; some had DEE and others had isolated ID.; Changed publications: 20493457, 22258530, 32811770, 36331550
BabyScreen+ newborn screening v0.1103 SLC25A1 Zornitza Stark Tag neurological tag was added to gene: SLC25A1.
BabyScreen+ newborn screening v0.1103 SLC19A3 Zornitza Stark Tag treatable tag was added to gene: SLC19A3.
BabyScreen+ newborn screening v0.1103 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
BabyScreen+ newborn screening v0.1103 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1103 SLC19A2 Zornitza Stark Tag treatable tag was added to gene: SLC19A2.
Renal Macrocystic Disease v0.63 LRP5 Zornitza Stark edited their review of gene: LRP5: Added comment: ClinGen assessment is LIMITED (2020).; Changed phenotypes: Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Cancer Predisposition_Paediatric v0.128 FBXW7 Zornitza Stark Phenotypes for gene: FBXW7 were changed from Predisposition to cancer to Wilms tumour, hereditary, MONDO:0003321, FBXW7-related
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Classified gene: FBXW7 as Amber List (moderate evidence)
Cancer Predisposition_Paediatric v0.127 FBXW7 Zornitza Stark Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Cancer Predisposition_Paediatric v0.126 FBXW7 Zornitza Stark reviewed gene: FBXW7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilms tumour, hereditary, MONDO:0003321, FBXW7-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polycystic liver disease v1.7 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.7 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Polycystic liver disease v1.7 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v1.6 SEC16B Zornitza Stark gene: SEC16B was added
gene: SEC16B was added to Polycystic liver disease. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to 28375157; 28862642; 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Review for gene: SEC16B was set to AMBER
Added comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Mendeliome v1.486 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Mendeliome v1.486 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.486 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Mendeliome v1.486 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Mendeliome v1.485 SEC16B Zornitza Stark gene: SEC16B was added
gene: SEC16B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to 28375157; 28862642; 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Review for gene: SEC16B was set to AMBER
Added comment: Two unrelated individuals with limited supporting functional data reported. Assessed as LIMITED by ClinGen.
Sources: Expert Review
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Marked gene: SEC16B as ready
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.63 SEC16B Zornitza Stark Phenotypes for gene: SEC16B were changed from Polycystic liver disease with or without renal cysts, no OMIM # to Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Renal Macrocystic Disease v0.62 SEC16B Zornitza Stark Classified gene: SEC16B as Amber List (moderate evidence)
Renal Macrocystic Disease v0.62 SEC16B Zornitza Stark Gene: sec16b has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.61 SEC16B Zornitza Stark reviewed gene: SEC16B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.61 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Renal Macrocystic Disease v0.61 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Mendeliome v1.484 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Ciliopathies v1.40 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Renal Ciliopathies and Nephronophthisis v1.17 ADAMTS9 Zornitza Stark Phenotypes for gene: ADAMTS9 were changed from Nephronophthisis-Related Ciliopathy to Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705; 27469900
Renal Ciliopathies and Nephronophthisis v1.16 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to 25557784; 31821705
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Marked gene: SBDS as ready
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.41 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Calcium and Phosphate disorders v0.40 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Marked gene: NDUFB7 as ready
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.144 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.143 NDUFB7 Zornitza Stark gene: NDUFB7 was added
gene: NDUFB7 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Expert Review
Mitochondrial disease v0.844 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.483 NDUFB7 Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Congenital lactic acidosis; hypertrophic cardiomyopathy
Mendeliome v1.482 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Marked gene: SLC25A1 as ready
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1103 SLC25A1 Seb Lunke Publications for gene: SLC25A1 were set to
BabyScreen+ newborn screening v0.1102 SLC25A1 Seb Lunke Classified gene: SLC25A1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1102 SLC25A1 Seb Lunke Gene: slc25a1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1101 SLC25A1 Seb Lunke Tag for review tag was added to gene: SLC25A1.
BabyScreen+ newborn screening v0.1101 SLC25A1 Seb Lunke reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1101 SLC22A5 Seb Lunke Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, MIM#212140 to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919
BabyScreen+ newborn screening v0.1100 SLC22A5 Seb Lunke Publications for gene: SLC22A5 were set to
BabyScreen+ newborn screening v0.1099 SLC22A5 Seb Lunke reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22420015; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1099 SLC19A3 Seb Lunke Marked gene: SLC19A3 as ready
BabyScreen+ newborn screening v0.1099 SLC19A3 Seb Lunke Gene: slc19a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1099 SLC19A3 Seb Lunke Phenotypes for gene: SLC19A3 were changed from Basal ganglia disease, biotin-responsive, MIM#607483 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
BabyScreen+ newborn screening v0.1098 SLC19A3 Seb Lunke Publications for gene: SLC19A3 were set to
BabyScreen+ newborn screening v0.1097 SLC19A3 Seb Lunke reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24260777; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1097 SLC19A2 Seb Lunke Marked gene: SLC19A2 as ready
BabyScreen+ newborn screening v0.1097 SLC19A2 Seb Lunke Gene: slc19a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1097 SLC19A2 Seb Lunke Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
BabyScreen+ newborn screening v0.1096 SLC19A2 Seb Lunke Publications for gene: SLC19A2 were set to
BabyScreen+ newborn screening v0.1095 SLC19A2 Seb Lunke reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301459; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Medulloblastoma v0.9 Zornitza Stark removed gene:PHOX2B from the panel
Medulloblastoma v0.8 GPR161 Zornitza Stark Classified gene: GPR161 as Green List (high evidence)
Medulloblastoma v0.8 GPR161 Zornitza Stark Gene: gpr161 has been classified as Green List (High Evidence).
Medulloblastoma v0.7 GPR161 Zornitza Stark gene: GPR161 was added
gene: GPR161 was added to Medulloblastoma. Sources: Expert Review
Mode of inheritance for gene: GPR161 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GPR161 were set to {Medulloblastoma predisposition syndrome} 155255
Review for gene: GPR161 was set to GREEN
Added comment: Sources: Expert Review
Medulloblastoma v0.6 ELP1 Zornitza Stark Classified gene: ELP1 as Green List (high evidence)
Medulloblastoma v0.6 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Medulloblastoma v0.5 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Medulloblastoma. Sources: Expert Review
Mode of inheritance for gene: ELP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to {Medulloblastoma} 155255
Review for gene: ELP1 was set to GREEN
Added comment: Sources: Expert Review
Medulloblastoma v0.4 Zornitza Stark removed gene:ALK from the panel
Renal Macrocystic Disease v0.60 LRP5 Chirag Patel reviewed gene: LRP5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Macrocystic Disease v0.60 SEC63 Chirag Patel Classified gene: SEC63 as Green List (high evidence)
Renal Macrocystic Disease v0.60 SEC63 Chirag Patel Gene: sec63 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.59 SEC63 Chirag Patel edited their review of gene: SEC63: Added comment: CLINGEN assessed as DEFINITIVE (2020)

SEC63 was FIRST reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2004 (Davila et al., PMID 15133510). ADPLD due to SEC63 mutations (ADPLD-SEC63) is diagnosed in adults with a family history of liver cysts, under age 40 with any number of liver cysts and individuals over the age of 40 with four or more liver cysts. Women are associated with more severe course of disease, and kidney cysts are present in approximately 28-35% of cases, but in these cases the kidney disease is mild with no association with progression to end stage renal disease (PMID 20408995). At least twenty unique variants (e.g. nonsense, frameshift, splice site, missense) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data, population data and experimental data. Summary of Case Level Data: 12 POINTS. Variants in this gene have been reported in at least 19 probands and in at least four publications (PMID 15133510, PMID 16835903, PMID 20095989, PMID 28375157). Variants in this gene segregated with disease in at least 24 additional family members. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism for disease is heterozygous loss of function (PMID 15133510, PMID 20095989), with experimental evidence suggesting endoplasmic reticulum stress with induction of the unfolded protein response (UPR) and association with aberrant polycystin 1 (PC1) post-translational modifications leading to cystogenesis (PMID 22864019, PMID 25844898). This gene-disease association is supported by expression studies in cell models, zebrafish models, and mouse models (PMID 21685914, PMID 22864019, PMID 25844898). In summary, SEC63 is definitively associated with AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.; Changed rating: GREEN
Renal Macrocystic Disease v0.59 PRKCSH Chirag Patel Classified gene: PRKCSH as Green List (high evidence)
Renal Macrocystic Disease v0.59 PRKCSH Chirag Patel Gene: prkcsh has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.58 PRKCSH Chirag Patel reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Macrocystic Disease v0.58 ALG8 Chirag Patel Classified gene: ALG8 as Green List (high evidence)
Renal Macrocystic Disease v0.58 ALG8 Chirag Patel Gene: alg8 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.57 ALG8 Chirag Patel Deleted their comment
Renal Macrocystic Disease v0.57 ALG8 Chirag Patel edited their review of gene: ALG8: Added comment: Based on similar ALG genes, the CLINGEN review is discrepant to their review on other similar ALG genes with similar genetic and experimental evidence. Given patients present with PLD with kidney cysts, decision made that evidence is sufficient for PanelApp for classification as GREEN.

CLINGEN assessed as LIMITED (2020)
Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.; Changed rating: GREEN
Renal Macrocystic Disease v0.57 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Royal Melbourne Hospital; Genetic Health Queensland
Renal Macrocystic Disease v0.56 ALG9 Chirag Patel Classified gene: ALG9 as Green List (high evidence)
Renal Macrocystic Disease v0.56 ALG9 Chirag Patel Gene: alg9 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.55 ALG9 Chirag Patel reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31395617, 32398770; Phenotypes: Polycystic kidney disease; Mode of inheritance: None
Renal Macrocystic Disease v0.55 SEC16B Chirag Patel gene: SEC16B was added
gene: SEC16B was added to Renal Macrocystic Disease. Sources: Expert Review
Mode of inheritance for gene: SEC16B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC16B were set to PMID: 28375157, 28862642, 30652979
Phenotypes for gene: SEC16B were set to Polycystic liver disease with or without renal cysts, no OMIM #
Review for gene: SEC16B was set to RED
Added comment: CLINGEN assessed as LIMITED (2020)
No further evidence since for kidney cysts

SEC61B was first reported in relation to autosomal dominant polycystic liver disease in 2017 (Besse et al., PMID:28375157). At least 2 variants (frameshift, start-loss) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 2 probands in 1 publication (PMID:28375157). This gene-disease association is supported by in vitro functional assays. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Sources: Expert Review
Renal Macrocystic Disease v0.54 ALG8 Chirag Patel gene: ALG8 was added
gene: ALG8 was added to Renal Macrocystic Disease. Sources: Expert Review
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG8 were set to PMID: 28375157, 32457805
Phenotypes for gene: ALG8 were set to Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Review for gene: ALG8 was set to RED
Added comment: CLINGEN assessed as LIMITED (2020)
No further evidence since then for kidney cysts.

Monoallelic ALG8 pathogenic variants were first reported in relation to autosomal dominant polycystic liver disease (ADPLD) in 2017 (Besse et al., PMID: 28375157). Of note, biallelic ALG8 pathogenic variants have been associated with congenital disorder of glycosylation, type Ih (CDG-1h; OMIM #608104). Given that ALG8-associated ADPLD and ALG8-associated CDG-1h have different inheritance modes and phenotypic manifestations, we have split the two disease entities. As noted above, here we only curate the association between ALG8 and ADPLD. At least 3 variants (2 nonsense, 1 splice) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, population-level data, and experimental data. Variants in this gene have been reported in at least 6 probands in 2 publications (PMID: 28375157; PMID: 32457805). This gene-disease association is supported by in vitro functional assays showing reduced maturation of polycystin 1 in ALG8 null cells. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship.
Sources: Expert Review
Mendeliome v1.482 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Mendeliome v1.482 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.481 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v1.39 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Ciliopathies v1.39 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Ciliopathies v1.38 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Classified gene: ADAMTS9 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.15 ADAMTS9 Chirag Patel Gene: adamts9 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.14 ADAMTS9 Chirag Patel reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ciliopathies v1.38 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Ciliopathies v1.38 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Ciliopathies v1.37 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Classified gene: DCDC2 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v1.14 DCDC2 Chirag Patel Gene: dcdc2 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.13 DCDC2 Chirag Patel reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27469900, 25557784, 31821705; Phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1095 SLC18A3 Seb Lunke Marked gene: SLC18A3 as ready
BabyScreen+ newborn screening v0.1095 SLC18A3 Seb Lunke Gene: slc18a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1095 SLC18A3 Seb Lunke Publications for gene: SLC18A3 were set to
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke changed review comment from: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: blood pressure measurement and sodium, potassium, aldosterone, renin levels; to: Established gene-disease association.

Childhood onset neurological condition.

Treatment: L-dopa resulted in severe exacerbation of the symptoms. Dopamine receptor agonist (pramipexole) resulted in improvement in symptoms. Earlier treatment more beneficial. Evidence from single family with benefits shown in 4 affected children.

Non-genetic confirmatory test: whole blood serotonin level
BabyScreen+ newborn screening v0.1094 SLC18A3 Seb Lunke reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke Marked gene: SLC18A2 as ready
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke Added comment: Comment when marking as ready: Is evidence for treatment sufficient?
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke Gene: slc18a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke Tag for review tag was added to gene: SLC18A2.
BabyScreen+ newborn screening v0.1094 SLC18A2 Seb Lunke reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23363473; Phenotypes: Parkinsonism-dystonia, infantile, 2, MIM# 618049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Classified gene: SBDS as Red List (low evidence)
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Classified gene: SBDS as Red List (low evidence)
Calcium and Phosphate disorders v0.39 SBDS Chirag Patel Gene: sbds has been classified as Red List (Low Evidence).
Calcium and Phosphate disorders v0.38 SBDS Chirag Patel reviewed gene: SBDS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Classified gene: HSD3B2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to PMID: 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Review for gene: HSD3B2 was set to GREEN
Added comment: Established gene-disease association.
Sources: Expert list
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Classified gene: CYP21A2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.8 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Review for gene: CYP21A2 was set to GREEN
Added comment: Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret.
Sources: Expert list
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Classified gene: CYP17A1 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.6 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Review for gene: CYP17A1 was set to GREEN
Added comment: More than 100 families reported.
Sources: Expert list
BabyScreen+ newborn screening v0.1094 KDM6A Zornitza Stark Marked gene: KDM6A as ready
BabyScreen+ newborn screening v0.1094 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1094 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2 to Kabuki syndrome 2, MIM#300867
BabyScreen+ newborn screening v0.1093 KDM6A Zornitza Stark Mode of inheritance for gene: KDM6A was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1092 KDM6A Zornitza Stark Classified gene: KDM6A as Red List (low evidence)
BabyScreen+ newborn screening v0.1092 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1091 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.1091 KIF21A Zornitza Stark Marked gene: KIF21A as ready
BabyScreen+ newborn screening v0.1091 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1091 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital to Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700
BabyScreen+ newborn screening v0.1090 KIF21A Zornitza Stark Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital to Fibrosis Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700of extraocular muscles, congenital
BabyScreen+ newborn screening v0.1089 KIF21A Zornitza Stark Classified gene: KIF21A as Red List (low evidence)
BabyScreen+ newborn screening v0.1089 KIF21A Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1088 KIF21A Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1088 KIT Zornitza Stark Marked gene: KIT as ready
BabyScreen+ newborn screening v0.1088 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1088 KIT Zornitza Stark Phenotypes for gene: KIT were changed from Piebaldism to Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764
BabyScreen+ newborn screening v0.1087 KIT Zornitza Stark Classified gene: KIT as Red List (low evidence)
BabyScreen+ newborn screening v0.1087 KIT Zornitza Stark Gene: kit has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1086 KIT Zornitza Stark reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1086 KLF1 Zornitza Stark Marked gene: KLF1 as ready
BabyScreen+ newborn screening v0.1086 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1086 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
BabyScreen+ newborn screening v0.1085 KLF1 Zornitza Stark Classified gene: KLF1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1085 KLF1 Zornitza Stark Gene: klf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1084 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1084 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
BabyScreen+ newborn screening v0.1084 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1084 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from Nemaline myopathy to Nemaline myopathy 8, autosomal recessive, MIM# 615348
BabyScreen+ newborn screening v0.1083 KLHL40 Zornitza Stark Classified gene: KLHL40 as Red List (low evidence)
BabyScreen+ newborn screening v0.1083 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1082 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1082 KLHL41 Zornitza Stark Marked gene: KLHL41 as ready
BabyScreen+ newborn screening v0.1082 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1082 KLHL41 Zornitza Stark Phenotypes for gene: KLHL41 were changed from Nemaline myopathy to Nemaline myopathy 9, MIM# 615731
BabyScreen+ newborn screening v0.1081 KLHL41 Zornitza Stark Classified gene: KLHL41 as Red List (low evidence)
BabyScreen+ newborn screening v0.1081 KLHL41 Zornitza Stark Gene: klhl41 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1080 KLHL41 Zornitza Stark reviewed gene: KLHL41: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 9, MIM# 615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1080 KAT6B Zornitza Stark Marked gene: KAT6B as ready
BabyScreen+ newborn screening v0.1080 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1080 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
BabyScreen+ newborn screening v0.1079 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1078 KAT6B Zornitza Stark Classified gene: KAT6B as Red List (low evidence)
BabyScreen+ newborn screening v0.1078 KAT6B Zornitza Stark Gene: kat6b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1077 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Additional findings_Paediatric v0.275 KAT6B Zornitza Stark Mode of inheritance for gene: KAT6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 KAT6B Zornitza Stark reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1077 KMT2D Zornitza Stark Marked gene: KMT2D as ready
BabyScreen+ newborn screening v0.1077 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1077 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1 to Kabuki syndrome 1, MIM# 147920
BabyScreen+ newborn screening v0.1076 KMT2D Zornitza Stark Classified gene: KMT2D as Red List (low evidence)
BabyScreen+ newborn screening v0.1076 KMT2D Zornitza Stark Gene: kmt2d has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1075 KMT2D Zornitza Stark commented on gene: KMT2D: Well established gene-disease association.

Congenital onset, multi-system disorder.

No specific treatment.
BabyScreen+ newborn screening v0.1075 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1075 KRT14 Zornitza Stark Marked gene: KRT14 as ready
BabyScreen+ newborn screening v0.1075 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1075 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
BabyScreen+ newborn screening v0.1074 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1073 KRT14 Zornitza Stark Classified gene: KRT14 as Red List (low evidence)
BabyScreen+ newborn screening v0.1073 KRT14 Zornitza Stark Gene: krt14 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1072 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1072 KRT16 Zornitza Stark Marked gene: KRT16 as ready
BabyScreen+ newborn screening v0.1072 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1072 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from Pachyonychia congenita to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)
BabyScreen+ newborn screening v0.1071 KRT16 Zornitza Stark Classified gene: KRT16 as Red List (low evidence)
BabyScreen+ newborn screening v0.1071 KRT16 Zornitza Stark Gene: krt16 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1070 KRT16 Zornitza Stark reviewed gene: KRT16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1070 KRT17 Zornitza Stark Marked gene: KRT17 as ready
BabyScreen+ newborn screening v0.1070 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1070 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from Pachyonychia congenita to Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500
BabyScreen+ newborn screening v0.1069 KRT17 Zornitza Stark Classified gene: KRT17 as Red List (low evidence)
BabyScreen+ newborn screening v0.1069 KRT17 Zornitza Stark Gene: krt17 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1068 KRT17 Zornitza Stark reviewed gene: KRT17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1068 KRT5 Zornitza Stark Marked gene: KRT5 as ready
BabyScreen+ newborn screening v0.1068 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1068 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex to Dowling-Degos disease 1, MIM# 179850; Epidermolysis bullosa simplex-MCR, MIM# 609352; Epidermolysis bullosa simplex-MP 131960; Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760; Epidermolysis bullosa simplex, Koebner type, MIM# 131900; Epidermolysis bullosa simplex, recessive 1, MIM# 601001; Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
BabyScreen+ newborn screening v0.1067 KRT5 Zornitza Stark Mode of inheritance for gene: KRT5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1066 KRT5 Zornitza Stark Classified gene: KRT5 as Red List (low evidence)
BabyScreen+ newborn screening v0.1066 KRT5 Zornitza Stark Gene: krt5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1065 KRT5 Zornitza Stark reviewed gene: KRT5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dowling-Degos disease 1, MIM# 179850, Epidermolysis bullosa simplex-MCR, MIM# 609352, Epidermolysis bullosa simplex-MP 131960, Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760, Epidermolysis bullosa simplex, Koebner type, MIM# 131900, Epidermolysis bullosa simplex, recessive 1, MIM# 601001, Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1065 KRT6A Zornitza Stark Marked gene: KRT6A as ready
BabyScreen+ newborn screening v0.1065 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1065 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from Pachyonychia congenita to Pachyonychia congenita 3 (MIM#615726)
BabyScreen+ newborn screening v0.1064 KRT6A Zornitza Stark Classified gene: KRT6A as Red List (low evidence)
BabyScreen+ newborn screening v0.1064 KRT6A Zornitza Stark Gene: krt6a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1063 KRT6A Zornitza Stark reviewed gene: KRT6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1063 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
BabyScreen+ newborn screening v0.1063 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1063 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome to Noonan syndrome 1, MIM# 163950
BabyScreen+ newborn screening v0.1062 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
BabyScreen+ newborn screening v0.1062 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1061 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1061 KRAS Zornitza Stark Marked gene: KRAS as ready
BabyScreen+ newborn screening v0.1061 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1061 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome to Cardiofaciocutaneous syndrome 2, MIM# 615278; Noonan syndrome 3, MIM# 609942
BabyScreen+ newborn screening v0.1060 KRAS Zornitza Stark Classified gene: KRAS as Red List (low evidence)
BabyScreen+ newborn screening v0.1060 KRAS Zornitza Stark Gene: kras has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1059 KRAS Zornitza Stark reviewed gene: KRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome 2, MIM# 615278, Noonan syndrome 3, MIM# 609942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1059 HRAS Zornitza Stark Marked gene: HRAS as ready
BabyScreen+ newborn screening v0.1059 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1059 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, MIM# 218040
BabyScreen+ newborn screening v0.1058 HRAS Zornitza Stark Classified gene: HRAS as Red List (low evidence)
BabyScreen+ newborn screening v0.1058 HRAS Zornitza Stark Gene: hras has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1057 HRAS Zornitza Stark reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1057 HINT1 Zornitza Stark Marked gene: HINT1 as ready
BabyScreen+ newborn screening v0.1057 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1057 HINT1 Zornitza Stark Phenotypes for gene: HINT1 were changed from Axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646
BabyScreen+ newborn screening v0.1056 HINT1 Zornitza Stark Classified gene: HINT1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1056 HINT1 Zornitza Stark Gene: hint1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1055 HINT1 Zornitza Stark reviewed gene: HINT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200, Gamstorp-Wohlfart syndrome, MONDO:0007646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1055 FAM126A Zornitza Stark Marked gene: FAM126A as ready
BabyScreen+ newborn screening v0.1055 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1055 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from Hypomyelination and congenital cataract to Hypomyelinating leukodystrophy 5 MONDO:0012514
BabyScreen+ newborn screening v0.1054 FAM126A Zornitza Stark Classified gene: FAM126A as Red List (low evidence)
BabyScreen+ newborn screening v0.1054 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1053 FAM126A Zornitza Stark reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1053 AMN Zornitza Stark Tag haematological tag was added to gene: AMN.
BabyScreen+ newborn screening v0.1053 ALPL Zornitza Stark Tag skeletal tag was added to gene: ALPL.
BabyScreen+ newborn screening v0.1053 ALDOB Zornitza Stark Tag metabolic tag was added to gene: ALDOB.
BabyScreen+ newborn screening v0.1053 ALDH7A1 Zornitza Stark Tag metabolic tag was added to gene: ALDH7A1.
BabyScreen+ newborn screening v0.1053 AKR1D1 Zornitza Stark Tag GI tag was added to gene: AKR1D1.
BabyScreen+ newborn screening v0.1053 AK2 Zornitza Stark Tag haematological tag was added to gene: AK2.
BabyScreen+ newborn screening v0.1053 AIRE Zornitza Stark Tag endocrine tag was added to gene: AIRE.
BabyScreen+ newborn screening v0.1053 AHCY Zornitza Stark Tag metabolic tag was added to gene: AHCY.
BabyScreen+ newborn screening v0.1053 AGXT Zornitza Stark Tag metabolic tag was added to gene: AGXT.
BabyScreen+ newborn screening v0.1053 AGRN Zornitza Stark Tag neurological tag was added to gene: AGRN.
BabyScreen+ newborn screening v0.1053 AGL Zornitza Stark Tag treatable tag was added to gene: AGL.
Tag metabolic tag was added to gene: AGL.
BabyScreen+ newborn screening v0.1053 ADGRV1 Zornitza Stark Tag deafness tag was added to gene: ADGRV1.
BabyScreen+ newborn screening v0.1053 ADAMTS13 Zornitza Stark Tag haematological tag was added to gene: ADAMTS13.
BabyScreen+ newborn screening v0.1053 ADA Zornitza Stark Tag immunological tag was added to gene: ADA.
BabyScreen+ newborn screening v0.1053 ACAT1 Zornitza Stark Tag metabolic tag was added to gene: ACAT1.
BabyScreen+ newborn screening v0.1053 ACADVL Zornitza Stark Tag metabolic tag was added to gene: ACADVL.
BabyScreen+ newborn screening v0.1053 ACADM Zornitza Stark Tag metabolic tag was added to gene: ACADM.
BabyScreen+ newborn screening v0.1053 ACAD9 Zornitza Stark Tag metabolic tag was added to gene: ACAD9.
BabyScreen+ newborn screening v0.1053 ABCG5 Zornitza Stark Tag metabolic tag was added to gene: ABCG5.
BabyScreen+ newborn screening v0.1053 ABCD1 Zornitza Stark Tag metabolic tag was added to gene: ABCD1.
BabyScreen+ newborn screening v0.1053 AAAS Zornitza Stark Tag treatable tag was added to gene: AAAS.
Tag endocrine tag was added to gene: AAAS.
BabyScreen+ newborn screening v0.1053 APRT Zornitza Stark Tag for review was removed from gene: APRT.
BabyScreen+ newborn screening v0.1053 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
BabyScreen+ newborn screening v0.1052 ATP2B2 Zornitza Stark Tag for review was removed from gene: ATP2B2.
BabyScreen+ newborn screening v0.1052 BMPR1A Zornitza Stark Tag for review was removed from gene: BMPR1A.
BabyScreen+ newborn screening v0.1052 BMPR1A Zornitza Stark changed review comment from: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

For review.; to: Well established gene-disease association.

Polyposis: onset in childhood although cancer onset tends to be in adulthood.

Screening typically starts in adolescence.
BabyScreen+ newborn screening v0.1052 CASQ2 Zornitza Stark Tag cardiac tag was added to gene: CASQ2.
BabyScreen+ newborn screening v0.1052 CASQ2 Zornitza Stark Classified gene: CASQ2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1052 CASQ2 Zornitza Stark Gene: casq2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1051 DDB2 Zornitza Stark Tag for review was removed from gene: DDB2.
BabyScreen+ newborn screening v0.1051 DDB2 Zornitza Stark changed review comment from: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For review re age of onset.; to: Established gene-disease association.

Range of age of onset, from childhood to adulthood. Most reported patients are adults, and this subtype which is generally milder.

Treatment: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
BabyScreen+ newborn screening v0.1051 EMD Zornitza Stark Tag for review was removed from gene: EMD.
BabyScreen+ newborn screening v0.1051 UROD Zornitza Stark Tag for review tag was added to gene: UROD.
BabyScreen+ newborn screening v0.1051 UROD Zornitza Stark Tag for review was removed from gene: UROD.
BabyScreen+ newborn screening v0.1051 ERCC5 Zornitza Stark Tag for review was removed from gene: ERCC5.
BabyScreen+ newborn screening v0.1051 ERCC5 Zornitza Stark changed review comment from: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants cause a range of DNA repair disorders.

Variable severity and age of onset of manifestations.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
BabyScreen+ newborn screening v0.1051 TSC1 Zornitza Stark Classified gene: TSC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1051 TSC1 Zornitza Stark Gene: tsc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1050 TSC1 Zornitza Stark Tag for review was removed from gene: TSC1.
BabyScreen+ newborn screening v0.1050 TSC1 Zornitza Stark reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1050 TSC2 Zornitza Stark Classified gene: TSC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1050 TSC2 Zornitza Stark Gene: tsc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1049 TSC2 Zornitza Stark Tag for review was removed from gene: TSC2.
BabyScreen+ newborn screening v0.1049 TSC2 Zornitza Stark changed review comment from: Treatment is largely symptomatic.; to: Treatment is symptomatic.
BabyScreen+ newborn screening v0.1049 TSC2 Zornitza Stark reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1049 TTC7A Zornitza Stark Classified gene: TTC7A as Red List (low evidence)
BabyScreen+ newborn screening v0.1049 TTC7A Zornitza Stark Gene: ttc7a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1048 TTC7A Zornitza Stark Tag for review was removed from gene: TTC7A.
BabyScreen+ newborn screening v0.1048 TTC7A Zornitza Stark reviewed gene: TTC7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: None
BabyScreen+ newborn screening v0.1048 ERCC2 Zornitza Stark Classified gene: ERCC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1048 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1047 ERCC2 Zornitza Stark Tag for review was removed from gene: ERCC2.
BabyScreen+ newborn screening v0.1047 ERCC2 Zornitza Stark edited their review of gene: ERCC2: Changed rating: RED
BabyScreen+ newborn screening v0.1047 ERCC2 Zornitza Stark changed review comment from: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.

For discussion.; to: Bi-allelic variants in this gene cause a range of conditions, including COFS, trichothiodystrophy and XPE.

DNA repair disorder.

Some features are treatable: avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil.
BabyScreen+ newborn screening v0.1047 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200; HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM
BabyScreen+ newborn screening v0.1046 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1045 FLCN Zornitza Stark Tag for review was removed from gene: FLCN.
BabyScreen+ newborn screening v0.1045 FBN1 Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.1045 FBN1 Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.1044 FBN1 Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER
BabyScreen+ newborn screening v0.1044 FGFR3 Zornitza Stark Tag clinical trial tag was added to gene: FGFR3.
BabyScreen+ newborn screening v0.1044 FAM161A Zornitza Stark Marked gene: FAM161A as ready
BabyScreen+ newborn screening v0.1044 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1044 FAM161A Zornitza Stark Phenotypes for gene: FAM161A were changed from Retinal dystrophy to Retinitis pigmentosa 28, 606068
BabyScreen+ newborn screening v0.1043 FAM161A Zornitza Stark Classified gene: FAM161A as Red List (low evidence)
BabyScreen+ newborn screening v0.1043 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1042 FAM161A Zornitza Stark reviewed gene: FAM161A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 28, 606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1042 FAM20C Zornitza Stark Marked gene: FAM20C as ready
BabyScreen+ newborn screening v0.1042 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1042 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Osteosclerotic bone dysplasia to Raine syndrome, MIM# 259775
BabyScreen+ newborn screening v0.1041 FAM20C Zornitza Stark Classified gene: FAM20C as Red List (low evidence)
BabyScreen+ newborn screening v0.1041 FAM20C Zornitza Stark Gene: fam20c has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1040 FAM20C Zornitza Stark reviewed gene: FAM20C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Raine syndrome, MIM# 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1803 GPHN Zornitza Stark Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157
BabyScreen+ newborn screening v0.1040 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
BabyScreen+ newborn screening v0.1040 FAM58A Zornitza Stark Marked gene: FAM58A as ready
BabyScreen+ newborn screening v0.1040 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1040 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from Syndactyly - telecanthus - anogenital and renal malformations to syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408
BabyScreen+ newborn screening v0.1039 FAM58A Zornitza Stark Classified gene: FAM58A as Red List (low evidence)
BabyScreen+ newborn screening v0.1039 FAM58A Zornitza Stark Gene: fam58a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1038 FAM58A Zornitza Stark reviewed gene: FAM58A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408; Mode of inheritance: Other
BabyScreen+ newborn screening v0.1038 FANCA Zornitza Stark Marked gene: FANCA as ready
BabyScreen+ newborn screening v0.1038 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1038 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anaemia, MIM#227650 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Episodic Ataxia v1.0 Bryony Thompson promoted panel to version 1.0
BabyScreen+ newborn screening v0.1037 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1037 FANCB Zornitza Stark Marked gene: FANCB as ready
BabyScreen+ newborn screening v0.1037 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1037 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anaemia, MIM#300514 to Fanconi anaemia, complementation group B, MIM# 300514
BabyScreen+ newborn screening v0.1036 FANCB Zornitza Stark Tag treatable tag was added to gene: FANCB.
BabyScreen+ newborn screening v0.1036 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1036 FANCC Zornitza Stark Marked gene: FANCC as ready
BabyScreen+ newborn screening v0.1036 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1036 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from Fanconi anaemia, MIM#227645 to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
BabyScreen+ newborn screening v0.1035 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1035 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
BabyScreen+ newborn screening v0.1035 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1035 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, MIM#227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
BabyScreen+ newborn screening v0.1034 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1034 FANCG Zornitza Stark Marked gene: FANCG as ready
BabyScreen+ newborn screening v0.1034 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1034 FANCG Zornitza Stark Tag treatable tag was added to gene: FANCG.
BabyScreen+ newborn screening v0.1034 FANCG Zornitza Stark reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group G, MIM# 614082, MONDO:0013565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1034 FANCI Zornitza Stark Marked gene: FANCI as ready
BabyScreen+ newborn screening v0.1034 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1034 FANCI Zornitza Stark Tag treatable tag was added to gene: FANCI.
BabyScreen+ newborn screening v0.1034 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1034 FAS Zornitza Stark Marked gene: FAS as ready
BabyScreen+ newborn screening v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1034 FAS Zornitza Stark Classified gene: FAS as Red List (low evidence)
BabyScreen+ newborn screening v0.1034 FAS Zornitza Stark Gene: fas has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1033 FAS Zornitza Stark reviewed gene: FAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1033 FBN1 Zornitza Stark Marked gene: FBN1 as ready
BabyScreen+ newborn screening v0.1033 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1033 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome to Marfan syndrome, MIM# 154700
BabyScreen+ newborn screening v0.1032 FBN1 Zornitza Stark Classified gene: FBN1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1032 FBN1 Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1031 FBN1 Zornitza Stark Tag for review tag was added to gene: FBN1.
BabyScreen+ newborn screening v0.1031 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1031 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
BabyScreen+ newborn screening v0.1031 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1031 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
BabyScreen+ newborn screening v0.1030 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1029 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1028 GDAP1 Zornitza Stark Classified gene: GDAP1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1028 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1027 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
BabyScreen+ newborn screening v0.1027 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1027 FERMT3 Zornitza Stark Tag treatable tag was added to gene: FERMT3.
BabyScreen+ newborn screening v0.1027 FERMT3 Zornitza Stark reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1027 FGA Zornitza Stark Marked gene: FGA as ready
BabyScreen+ newborn screening v0.1027 FGA Zornitza Stark Gene: fga has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1027 FGA Zornitza Stark Phenotypes for gene: FGA were changed from Afibrinogenaemia to Afibrinogenemia, congenital (MIM#202400)
BabyScreen+ newborn screening v0.1026 FGA Zornitza Stark reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1026 FGB Zornitza Stark Marked gene: FGB as ready
BabyScreen+ newborn screening v0.1026 FGB Zornitza Stark Gene: fgb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1026 FGB Zornitza Stark Phenotypes for gene: FGB were changed from Afibrinogenaemia to Afibrinogenaemia, congenital, MIM# 202400
BabyScreen+ newborn screening v0.1025 FGB Zornitza Stark reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1025 FGD1 Zornitza Stark Marked gene: FGD1 as ready
BabyScreen+ newborn screening v0.1025 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1025 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from Aarskog-Scott syndrome to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
BabyScreen+ newborn screening v0.1024 FGD1 Zornitza Stark Classified gene: FGD1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1024 FGD1 Zornitza Stark Gene: fgd1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1023 FGD1 Zornitza Stark reviewed gene: FGD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aarskog-Scott syndrome, MIM # 305400, Mental retardation, X-linked syndromic 16, MIM# 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.1023 FGD4 Zornitza Stark Marked gene: FGD4 as ready
BabyScreen+ newborn screening v0.1023 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1023 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, type 4H, MIM#609311
BabyScreen+ newborn screening v0.1022 FGD4 Zornitza Stark Classified gene: FGD4 as Red List (low evidence)
BabyScreen+ newborn screening v0.1022 FGD4 Zornitza Stark Gene: fgd4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1021 FGD4 Zornitza Stark reviewed gene: FGD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 4H, MIM#609311; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1021 FGF3 Zornitza Stark Marked gene: FGF3 as ready
BabyScreen+ newborn screening v0.1021 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1021 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from Deafness, congenital with inner ear agenesis, microtia, and microdontia to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706
BabyScreen+ newborn screening v0.1020 FGF3 Zornitza Stark reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1020 FBN2 Zornitza Stark Marked gene: FBN2 as ready
BabyScreen+ newborn screening v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1020 FBN2 Zornitza Stark Classified gene: FBN2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1020 FBN2 Zornitza Stark Gene: fbn2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1019 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Contractural arachnodactyly, congenital, MIM# 121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1019 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
BabyScreen+ newborn screening v0.1019 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1019 SLC34A3 Zornitza Stark Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria to Hypophosphatemic rickets with hypercalciuria, MIM#241530
BabyScreen+ newborn screening v0.1018 SLC34A3 Zornitza Stark Tag treatable tag was added to gene: SLC34A3.
BabyScreen+ newborn screening v0.1018 SLC34A3 Zornitza Stark reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.151 KCNJ16 Zornitza Stark Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness
Deafness_IsolatedAndComplex v1.150 KCNJ16 Zornitza Stark edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness
Mendeliome v1.481 KCNJ16 Zornitza Stark Phenotypes for gene: KCNJ16 were changed from Renal tubulopathy; deafness to Inherited renal tubular disease, MONDO:0015962, KCNJ16-related; Renal tubulopathy; deafness
Mendeliome v1.480 KCNJ16 Zornitza Stark edited their review of gene: KCNJ16: Changed phenotypes: Inherited renal tubular disease, MONDO:0015962, KCNJ16-related, Renal tubulopathy, deafness
Genetic Epilepsy v0.1802 GPHN Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 34617111; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.187 MYCN Achchuthan Shanmugasundram changed review comment from: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature; to: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies from mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature
BabyScreen+ newborn screening v0.1018 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
BabyScreen+ newborn screening v0.1018 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1018 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from Kallmann syndrome to Encephalocraniocutaneous lipomatosis, somatic mosaic 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
BabyScreen+ newborn screening v0.1017 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1017 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1016 FGFR1 Zornitza Stark reviewed gene: FGFR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1016 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
BabyScreen+ newborn screening v0.1016 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1016 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Apert syndrome, MIM# 101200; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Bent bone dysplasia syndrome, MIM# 614592; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600; Crouzon syndrome , MIM#123500; Jackson-Weiss syndrome,MIM# 123150; LADD syndrome, MIM# 149730; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400
BabyScreen+ newborn screening v0.1015 FGFR2 Zornitza Stark Classified gene: FGFR2 as Red List (low evidence)
BabyScreen+ newborn screening v0.1015 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1014 FGFR2 Zornitza Stark reviewed gene: FGFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592, Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600, Crouzon syndrome , MIM#123500, Jackson-Weiss syndrome,MIM# 123150, LADD syndrome, MIM# 149730, Pfeiffer syndrome,MIM# 101600, Saethre-Chotzen syndrome 101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1014 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
BabyScreen+ newborn screening v0.1014 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1014 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome to Achondroplasia MONDO:0007037
BabyScreen+ newborn screening v0.1013 FGFR3 Zornitza Stark Publications for gene: FGFR3 were set to
BabyScreen+ newborn screening v0.1012 FGFR3 Zornitza Stark Tag for review tag was added to gene: FGFR3.
Tag treatable tag was added to gene: FGFR3.
BabyScreen+ newborn screening v0.1012 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34341520, 31269546; Phenotypes: Achondroplasia MONDO:0007037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1012 FGG Zornitza Stark Marked gene: FGG as ready
BabyScreen+ newborn screening v0.1012 FGG Zornitza Stark Gene: fgg has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1012 FGG Zornitza Stark Phenotypes for gene: FGG were changed from Afibrinogenaemia to Afibrinogenemia, congenital, MIM# 202400
BabyScreen+ newborn screening v0.1011 FGG Zornitza Stark Tag treatable tag was added to gene: FGG.
BabyScreen+ newborn screening v0.1011 FGG Zornitza Stark reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital, MIM# 202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1011 FKRP Zornitza Stark Marked gene: FKRP as ready
BabyScreen+ newborn screening v0.1011 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1011 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I to Muscular dystrophy-dystroglycanopathy MONDO:0018276
BabyScreen+ newborn screening v0.1010 FKRP Zornitza Stark Classified gene: FKRP as Red List (low evidence)
BabyScreen+ newborn screening v0.1010 FKRP Zornitza Stark Gene: fkrp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1009 FKRP Zornitza Stark reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1009 FKTN Zornitza Stark Marked gene: FKTN as ready
BabyScreen+ newborn screening v0.1009 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1009 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies to Muscular dystrophy-dystroglycanopathy MONDO:0018276
BabyScreen+ newborn screening v0.1008 FKTN Zornitza Stark Classified gene: FKTN as Red List (low evidence)
BabyScreen+ newborn screening v0.1008 FKTN Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1007 FKTN Zornitza Stark reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.1007 FLCN Zornitza Stark changed review comment from: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter.

For review.; to: Well established gene-disease association.

Typically manifests in adulthood, therefore predictive testing usually offered in adolescence with surveillance thereafter. Renal cancer age of onset ~50 years.

For review.
BabyScreen+ newborn screening v0.1007 FLCN Zornitza Stark Marked gene: FLCN as ready
BabyScreen+ newborn screening v0.1007 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1007 FLCN Zornitza Stark Phenotypes for gene: FLCN were changed from Birt-Hogg-Dube syndrome to Birt-Hogg-Dube syndrome, MIM# 135150
BabyScreen+ newborn screening v0.1006 FLCN Zornitza Stark Classified gene: FLCN as Red List (low evidence)
BabyScreen+ newborn screening v0.1006 FLCN Zornitza Stark Gene: flcn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1005 FLCN Zornitza Stark Tag for review tag was added to gene: FLCN.
BabyScreen+ newborn screening v0.1005 FLCN Zornitza Stark reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome, MIM# 135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.1005 FLNA Zornitza Stark Marked gene: FLNA as ready
BabyScreen+ newborn screening v0.1005 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1005 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from Otopalatodigital spectrum disorder to FLNA-related disorders; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120; Frontometaphyseal dysplasia 305620; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300
BabyScreen+ newborn screening v0.1004 FLNA Zornitza Stark Classified gene: FLNA as Red List (low evidence)
BabyScreen+ newborn screening v0.1004 FLNA Zornitza Stark Gene: flna has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1003 FLNA Zornitza Stark reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FLNA-related disorders, Frontometaphyseal dysplasia 305620, Otopalatodigital syndrome, type II -304120, Osteodysplasty Melnick Needles 309350, Melnick Needles syndrome 309350, Otopalatodigital syndrome, type II 304120, Frontometaphyseal dysplasia 305620, Terminal osseous dysplasia 300244, Otopalatodigital syndrome, type I -311300; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral amyloid angiopathy v1.1 Bryony Thompson Panel status changed from internal to public
Cerebral amyloid angiopathy v1.0 Bryony Thompson promoted panel to version 1.0
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Marked gene: TTR as ready
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Classified gene: TTR as Green List (high evidence)
Cerebral amyloid angiopathy v0.16 TTR Bryony Thompson Gene: ttr has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.15 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 35040071; 8579098; 31257920; 27466465; 28991667; 11422811
Phenotypes for gene: TTR were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: TTR was set to Other
Review for gene: TTR was set to GREEN
gene: TTR was marked as current diagnostic
Added comment: Cerebral amyloid angiopathy has been reported in multiple cases with pathogenic TTR variants
Sources: Literature
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Marked gene: PSEN2 as ready
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence).
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Classified gene: PSEN2 as Amber List (moderate evidence)
Cerebral amyloid angiopathy v0.14 PSEN2 Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence).
Cerebral amyloid angiopathy v0.13 PSEN2 Bryony Thompson gene: PSEN2 was added
gene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 9450781; 26888304
Phenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: PSEN2 was set to Other
Review for gene: PSEN2 was set to AMBER
Added comment: Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications).
Sources: Literature
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Marked gene: PSEN1 as ready
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Classified gene: PSEN1 as Green List (high evidence)
Cerebral amyloid angiopathy v0.12 PSEN1 Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.11 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 11701593; 11079548; 34319632
Phenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: PSEN1 was set to Other
Review for gene: PSEN1 was set to GREEN
gene: PSEN1 was marked as current diagnostic
Added comment: Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA).
Sources: Literature
Cerebral amyloid angiopathy v0.10 PRNP Bryony Thompson Mode of pathogenicity for gene: PRNP was changed from None to Other
Cerebral amyloid angiopathy v0.9 PRNP Bryony Thompson Classified gene: PRNP as Green List (high evidence)
Cerebral amyloid angiopathy v0.9 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.8 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623
Phenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339
Review for gene: PRNP was set to GREEN
gene: PRNP was marked as current diagnostic
Added comment: At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels
Sources: Literature
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Classified gene: ITM2B as Green List (high evidence)
Cerebral amyloid angiopathy v0.7 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.6 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITM2B were set to 10391242; 10781099; 20385796; 33814452
Phenotypes for gene: ITM2B were set to Cerebral amyloid angiopathy MONDO:0005620
Mode of pathogenicity for gene: ITM2B was set to Other
Review for gene: ITM2B was set to GREEN
gene: ITM2B was marked as current diagnostic
Added comment: At least 4 unrelated families with dementia as a prominent feature of the phenotype and stop loss or protein elongating variants, and a supporting mouse model. Variants that result in the generation of peptide, which is deposited as amyloid fibrils causing neuronal disfunction and dementia.
PMID: 10391242 - familial British dementia (FBD) stop loss variant (c.799T>A p.Ter267Arg) in British kindred with progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade of life.
PMID: 10781099 - familial Danish dementia protein elongating variant (c.787_796dup p.Ser266fs) identified in a large Danish kindred with a dominant disorder characterised by cataracts, deafness, progressive ataxia, and dementia.
PMID: 33814452 - a Chinese patient with dementia, ataxia, deafness, and paraplegia and a heterozygous stop loss variant (p.*267Leuext*11)
ClinVar: SCV002059726.1 - likely pathogenic stop loss variant (c.800G>T p.Ter267Leu) similar to the FBD variant reported in an individual affected with ABri amyloidosis by Centogene AG
PMID: 20385796 - mouse model of Danish variant demonstrates amyloid deposition in brain (to a lesser extent in the cerebellum), and increased anxiety.
Sources: Expert list
Mendeliome v1.480 MYCN Zornitza Stark reviewed gene: MYCN: Rating: RED; Mode of pathogenicity: None; Publications: 34590686; Phenotypes: cleft lip with or without cleft palate, MONDO:0016034, MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.187 MYCN Zornitza Stark Marked gene: MYCN as ready
Clefting disorders v0.187 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Clefting disorders v0.187 MYCN Zornitza Stark Classified gene: MYCN as Red List (low evidence)
Clefting disorders v0.187 MYCN Zornitza Stark Gene: mycn has been classified as Red List (Low Evidence).
Mendeliome v1.480 AFDN Zornitza Stark Marked gene: AFDN as ready
Mendeliome v1.480 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Mendeliome v1.480 AFDN Zornitza Stark gene: AFDN was added
gene: AFDN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFDN were set to 36384317
Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related
Review for gene: AFDN was set to RED
Added comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position.
Sources: Literature
Clefting disorders v0.186 AFDN Zornitza Stark Marked gene: AFDN as ready
Clefting disorders v0.186 AFDN Zornitza Stark Gene: afdn has been classified as Red List (Low Evidence).
Clefting disorders v0.186 AFDN Zornitza Stark gene: AFDN was added
gene: AFDN was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AFDN were set to 36384317
Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related
Review for gene: AFDN was set to RED
Added comment: Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position.
Sources: Literature
Clefting disorders v0.185 MYCN Achchuthan Shanmugasundram gene: MYCN was added
gene: MYCN was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYCN were set to 34590686
Phenotypes for gene: MYCN were set to cleft lip with or without cleft palate, MONDO:0016034
Review for gene: MYCN was set to RED
Added comment: Comment on classification of this gene: This gene has been added with a RED rating to this panel, as identified from one case and supported by functional studies with mouse model.

Out of the 104 multiplex families with Mendelian non-syndromic cleft lip with or without cleft palate (NSCL/P), a novel pathogenic variant (c.703G>C/ p.A235P) has been identified in MYCN gene from one family. This variant was found in the proband and his affected mother and absent in the unaffected sister, showing co0-segregation with phenotype in this family.

In addition, experimental evidence from conditional knockout mouse model showed that these mice displayed cleft palate, microglossia and micrognathia, resembling the Pierre Robin sequence (PRS) in humans.

This gene has not yet been associated with clefting either in OMIM or in Gene2Phenotype.
Sources: Literature
BabyScreen+ newborn screening v0.1003 FOXA2 Zornitza Stark Marked gene: FOXA2 as ready
BabyScreen+ newborn screening v0.1003 FOXA2 Zornitza Stark Gene: foxa2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.1003 FOXA2 Zornitza Stark Phenotypes for gene: FOXA2 were changed from Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 to Hyperinsulinism MONDO:0002177
BabyScreen+ newborn screening v0.1002 FOXA2 Zornitza Stark Mode of inheritance for gene: FOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BabyScreen+ newborn screening v0.1001 FOXA2 Zornitza Stark reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism MONDO:0002177; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.479 FOXA2 Zornitza Stark Publications for gene: FOXA2 were set to 29329447; 28973288; 11445544
Mendeliome v1.478 FOXA2 Zornitza Stark edited their review of gene: FOXA2: Added comment: PMID 33999151: two further individuals reported.; Changed publications: 29329447, 28973288, 11445544, 33999151
BabyScreen+ newborn screening v0.1001 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
BabyScreen+ newborn screening v0.1001 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.1001 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from Axenfeld-Rieger syndrome to Axenfeld-Rieger syndrome, type 3, MIM# 602482
BabyScreen+ newborn screening v0.1000 FOXC1 Zornitza Stark Classified gene: FOXC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.1000 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.999 FOXC1 Zornitza Stark reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.999 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from Lymphoedema, primary to Lymphoedema-distichiasis syndrome, MIM# 153400
BabyScreen+ newborn screening v0.998 FOXC2 Zornitza Stark Classified gene: FOXC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.998 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.997 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.997 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
BabyScreen+ newborn screening v0.997 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.997 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from Alveolar capillary dysplasia with misalignment of pulmonary veins to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
BabyScreen+ newborn screening v0.996 FOXF1 Zornitza Stark Classified gene: FOXF1 as Red List (low evidence)
BabyScreen+ newborn screening v0.996 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.995 FOXF1 Zornitza Stark reviewed gene: FOXF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.995 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
BabyScreen+ newborn screening v0.995 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.995 FOXI1 Zornitza Stark Phenotypes for gene: FOXI1 were changed from sensorineural deafness and distal renal tubular acidosis to autosomal recessive distal renal tubular acidosis MONDO:0018440
BabyScreen+ newborn screening v0.994 FOXI1 Zornitza Stark Classified gene: FOXI1 as Red List (low evidence)
BabyScreen+ newborn screening v0.994 FOXI1 Zornitza Stark Gene: foxi1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.993 FOXI1 Zornitza Stark reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.478 FOXI1 Zornitza Stark Deleted their review
Mendeliome v1.478 FOXI1 Zornitza Stark reviewed gene: FOXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.163 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Mendeliome v1.478 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
Congenital Diarrhoea v1.11 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
BabyScreen+ newborn screening v0.993 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
BabyScreen+ newborn screening v0.993 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.993 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from IPEX syndrome, MIM#304790 to IPEX syndrome, MIM#304790
BabyScreen+ newborn screening v0.992 FOXP3 Zornitza Stark Tag treatable tag was added to gene: FOXP3.
BabyScreen+ newborn screening v0.992 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.992 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
BabyScreen+ newborn screening v0.992 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.992 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome to Fraser syndrome 1, MIM#219000
BabyScreen+ newborn screening v0.991 FRAS1 Zornitza Stark Classified gene: FRAS1 as Red List (low evidence)
BabyScreen+ newborn screening v0.991 FRAS1 Zornitza Stark Gene: fras1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.990 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.990 GLDC Zornitza Stark Marked gene: GLDC as ready
BabyScreen+ newborn screening v0.990 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.990 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy to Glycine encephalopathy, MIM# 605899
BabyScreen+ newborn screening v0.989 GLDC Zornitza Stark Publications for gene: GLDC were set to
BabyScreen+ newborn screening v0.988 GLDC Zornitza Stark Tag for review tag was added to gene: GLDC.
BabyScreen+ newborn screening v0.988 GLDC Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.988 GLDC Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.987 GLDC Zornitza Stark reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.987 GLB1 Zornitza Stark Marked gene: GLB1 as ready
BabyScreen+ newborn screening v0.987 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.987 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Gangliosidosis GM1 to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
BabyScreen+ newborn screening v0.986 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
BabyScreen+ newborn screening v0.985 GLB1 Zornitza Stark Classified gene: GLB1 as Red List (low evidence)
BabyScreen+ newborn screening v0.985 GLB1 Zornitza Stark Gene: glb1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.984 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.984 F10 Zornitza Stark Marked gene: F10 as ready
BabyScreen+ newborn screening v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.984 F10 Zornitza Stark Classified gene: F10 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.984 F10 Zornitza Stark Gene: f10 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.983 F10 Zornitza Stark Tag for review tag was added to gene: F10.
BabyScreen+ newborn screening v0.983 F10 Zornitza Stark reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor X deficiency, MIM# 227600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.983 FTL Zornitza Stark Marked gene: FTL as ready
BabyScreen+ newborn screening v0.983 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.983 FTL Zornitza Stark Phenotypes for gene: FTL were changed from Neuroferritinopathy to Neurodegeneration with brain iron accumulation 3, MIM# 606159
BabyScreen+ newborn screening v0.982 FTL Zornitza Stark Classified gene: FTL as Red List (low evidence)
BabyScreen+ newborn screening v0.982 FTL Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.981 FTL Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM# 606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.981 FXN Zornitza Stark Marked gene: FXN as ready
BabyScreen+ newborn screening v0.981 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.981 FXN Zornitza Stark Phenotypes for gene: FXN were changed from Friedreich ataxia to Friedreich ataxia MONDO:0100339
BabyScreen+ newborn screening v0.980 FXN Zornitza Stark Classified gene: FXN as Red List (low evidence)
BabyScreen+ newborn screening v0.980 FXN Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.979 FXN Zornitza Stark reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MONDO:0100339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.979 EZH2 Zornitza Stark Marked gene: EZH2 as ready
BabyScreen+ newborn screening v0.979 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.979 EZH2 Zornitza Stark Phenotypes for gene: EZH2 were changed from Weaver syndrome 2 to Weaver syndrome MIM#277590
BabyScreen+ newborn screening v0.978 EZH2 Zornitza Stark Classified gene: EZH2 as Red List (low evidence)
BabyScreen+ newborn screening v0.978 EZH2 Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.977 EZH2 Zornitza Stark reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Weaver syndrome MIM#277590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.977 EYA4 Zornitza Stark Marked gene: EYA4 as ready
BabyScreen+ newborn screening v0.977 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.977 EYA4 Zornitza Stark Phenotypes for gene: EYA4 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant 10, MIM# 601316
BabyScreen+ newborn screening v0.976 EYA4 Zornitza Stark Classified gene: EYA4 as Red List (low evidence)
BabyScreen+ newborn screening v0.976 EYA4 Zornitza Stark Gene: eya4 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.975 EYA4 Zornitza Stark reviewed gene: EYA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 10, MIM# 601316; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.975 EYA1 Zornitza Stark Marked gene: EYA1 as ready
BabyScreen+ newborn screening v0.975 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.975 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from Branchiootorenal syndrome to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
BabyScreen+ newborn screening v0.974 EYA1 Zornitza Stark Classified gene: EYA1 as Red List (low evidence)
BabyScreen+ newborn screening v0.974 EYA1 Zornitza Stark Gene: eya1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.973 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.973 EXT2 Zornitza Stark Marked gene: EXT2 as ready
BabyScreen+ newborn screening v0.973 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.973 EXT2 Zornitza Stark Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
BabyScreen+ newborn screening v0.972 EXT2 Zornitza Stark Mode of inheritance for gene: EXT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.971 EXT2 Zornitza Stark Classified gene: EXT2 as Red List (low evidence)
BabyScreen+ newborn screening v0.971 EXT2 Zornitza Stark Gene: ext2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.970 EXT2 Zornitza Stark reviewed gene: EXT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.970 EXT1 Zornitza Stark Marked gene: EXT1 as ready
BabyScreen+ newborn screening v0.970 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.970 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from Exostoses, multiple, type 1 to Exostoses, multiple, type 1, MIM# 133700
BabyScreen+ newborn screening v0.969 EXT1 Zornitza Stark Classified gene: EXT1 as Red List (low evidence)
BabyScreen+ newborn screening v0.969 EXT1 Zornitza Stark Gene: ext1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.968 EXT1 Zornitza Stark reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Exostoses, multiple, type 1, MIM# 133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Marked gene: EVC2 as ready
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.968 EVC2 Zornitza Stark Phenotypes for gene: EVC2 were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530
BabyScreen+ newborn screening v0.967 EVC2 Zornitza Stark Mode of inheritance for gene: EVC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.966 EVC2 Zornitza Stark Classified gene: EVC2 as Red List (low evidence)
BabyScreen+ newborn screening v0.966 EVC2 Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.965 EVC2 Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.965 EVC Zornitza Stark Marked gene: EVC as ready
BabyScreen+ newborn screening v0.965 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.965 EVC Zornitza Stark Phenotypes for gene: EVC were changed from Ellis-van Creveld syndrome to Ellis-van Creveld syndrome, MIM# 225500
BabyScreen+ newborn screening v0.964 EVC Zornitza Stark Classified gene: EVC as Red List (low evidence)
BabyScreen+ newborn screening v0.964 EVC Zornitza Stark Gene: evc has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.963 EVC Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.963 EFTUD2 Zornitza Stark Classified gene: EFTUD2 as Red List (low evidence)
BabyScreen+ newborn screening v0.963 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.962 EFTUD2 Zornitza Stark edited their review of gene: EFTUD2: Changed rating: RED
BabyScreen+ newborn screening v0.962 ESRRB Zornitza Stark Marked gene: ESRRB as ready
BabyScreen+ newborn screening v0.962 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.962 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from Hearing loss to Deafness, autosomal recessive 35, MIM#608565
BabyScreen+ newborn screening v0.961 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.961 ESPN Zornitza Stark Marked gene: ESPN as ready
BabyScreen+ newborn screening v0.961 ESPN Zornitza Stark Gene: espn has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.961 ESPN Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.961 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
BabyScreen+ newborn screening v0.961 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.961 ESCO2 Zornitza Stark Phenotypes for gene: ESCO2 were changed from Roberts syndrome to Juberg-Hayward syndrome, MIM# 216100; Roberts-SC phocomelia syndrome, MIM#268300
BabyScreen+ newborn screening v0.960 ESCO2 Zornitza Stark Classified gene: ESCO2 as Red List (low evidence)
BabyScreen+ newborn screening v0.960 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.959 ESCO2 Zornitza Stark reviewed gene: ESCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Juberg-Hayward syndrome, MIM# 216100, Roberts-SC phocomelia syndrome, MIM#268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.959 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
BabyScreen+ newborn screening v0.959 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.959 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Cockayne syndrome to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569
BabyScreen+ newborn screening v0.958 ERCC8 Zornitza Stark Classified gene: ERCC8 as Red List (low evidence)
BabyScreen+ newborn screening v0.958 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.957 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.957 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
BabyScreen+ newborn screening v0.957 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.957 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome to Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955; Cockayne syndrome, type B, MIM# 133540 MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909
BabyScreen+ newborn screening v0.956 ERCC6 Zornitza Stark Classified gene: ERCC6 as Red List (low evidence)
BabyScreen+ newborn screening v0.956 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.955 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955, Cockayne syndrome, type B, MIM# 133540 MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.955 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216
BabyScreen+ newborn screening v0.954 ERCC5 Zornitza Stark Classified gene: ERCC5 as Red List (low evidence)
BabyScreen+ newborn screening v0.954 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.953 ERCC5 Zornitza Stark Tag for review tag was added to gene: ERCC5.
BabyScreen+ newborn screening v0.953 ERCC5 Zornitza Stark reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.953 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group D, MIM# 278730
BabyScreen+ newborn screening v0.952 ERCC2 Zornitza Stark Classified gene: ERCC2 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.952 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.951 ERCC2 Zornitza Stark Tag for review tag was added to gene: ERCC2.
BabyScreen+ newborn screening v0.951 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Classified gene: EPS8L2 as Red List (low evidence)
BabyScreen+ newborn screening v0.951 EPS8L2 Zornitza Stark Gene: eps8l2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.950 EPS8L2 Zornitza Stark reviewed gene: EPS8L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness autosomal recessive 106, MIM# 617637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.950 GLB1 John Christodoulou edited their review of gene: GLB1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.950 GLDC John Christodoulou edited their review of gene: GLDC: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.950 GLDC John Christodoulou changed review comment from: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718); to: causes nonketotic hyperglycaemia

classical form presents in the neonatal period and treatments (eg sodium benzoate and NDMA receptor antagonists) do not alter the neurological trajectory

milder forms of the disorder (later onset, but still in early childhood), may show response to therapy (PMID: 21411353); potentially aided by phenotype-genotype correlations (PMID: 32421718)
BabyScreen+ newborn screening v0.950 GLRA1 John Christodoulou edited their review of gene: GLRA1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.950 GLUD1 John Christodoulou reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35752848; Phenotypes: hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.950 GLRA1 John Christodoulou reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32319239, PMID: 25356525; Phenotypes: hyperekplexia, stiffness, developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.950 GLDC John Christodoulou reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16404748, PMID: 34513771; Phenotypes: acute encephalopathy, seizures, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.950 GLB1 John Christodoulou reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34539759; Phenotypes: neurodegeneration, coarse facial features, gingival hyperplasia, cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.950 GLA John Christodoulou reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30017653; Phenotypes: neuropathic pain, cardiomyopathy, cataract, agniokeratomata, deafness, hypohidrosis, stroke, renal failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.950 GIF John Christodoulou reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35337622; Phenotypes: pernicious anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.950 GGCX John Christodoulou edited their review of gene: GGCX: Changed phenotypes: bleeding disorder, pseudoxanthoma elasticum, pigmentary retinopathy, congenital heart disease
BabyScreen+ newborn screening v0.950 GGCX John Christodoulou changed review comment from: can have its onset in the newborn period and can be severe

treatable with vitamin K; to: can have its onset in the newborn period and can be severe

treatable with vitamin K
BabyScreen+ newborn screening v0.950 GGCX John Christodoulou reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28125048; Phenotypes: bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Marked gene: CST3 as ready
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Classified gene: CST3 as Green List (high evidence)
Cerebral amyloid angiopathy v0.5 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.4 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423
Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150
Mode of pathogenicity for gene: CST3 was set to Other
Review for gene: CST3 was set to GREEN
Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6.
Sources: Expert list
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Marked gene: APP as ready
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Classified gene: APP as Green List (high evidence)
Cerebral amyloid angiopathy v0.3 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Cerebral amyloid angiopathy v0.2 APP Bryony Thompson gene: APP was added
gene: APP was added to Cerebral amyloid angiopathy. Sources: Expert list
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 16178030; 11409420; 16612981; 19225789
Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related MONDO:0011583
Mode of pathogenicity for gene: APP was set to Other
Review for gene: APP was set to GREEN
gene: APP was marked as current diagnostic
Added comment: Well-established cause of cerebral amyloid angiopathy. Loss of function is not the mechanism of disease. Disease-causing missense substitutions cause an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.
Sources: Expert list
Cerebral amyloid angiopathy v0.1 Bryony Thompson List of related panels changed from to Cerebral amyloid angiopathy; HP:0011970
Cerebral amyloid angiopathy v0.0 Bryony Thompson Added Panel Cerebral amyloid angiopathy
Set panel types to: Royal Melbourne Hospital
Mendeliome v1.478 CLEC3B Zornitza Stark Marked gene: CLEC3B as ready
Mendeliome v1.478 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Mendeliome v1.478 CLEC3B Zornitza Stark Classified gene: CLEC3B as Green List (high evidence)
Mendeliome v1.478 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Mendeliome v1.477 CLEC3B Zornitza Stark Tag founder tag was added to gene: CLEC3B.
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Marked gene: CLEC3B as ready
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Zornitza Stark Tag founder tag was added to gene: CLEC3B.
Intellectual disability syndromic and non-syndromic v0.5029 TBC1D2B Chirag Patel Classified gene: TBC1D2B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5029 TBC1D2B Chirag Patel Gene: tbc1d2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5028 TBC1D2B Chirag Patel reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36029130; Phenotypes: Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM #619323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.477 CLEC3B Chirag Patel gene: CLEC3B was added
gene: CLEC3B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLEC3B were set to PMID: 35331648
Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977
Review for gene: CLEC3B was set to GREEN
Added comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.

Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: Literature
Mendeliome v1.476 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Renal Ciliopathies and Nephronophthisis v1.13 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Fetal anomalies v1.76 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic Diabetes v0.32 PDIA6 Chirag Patel edited their review of gene: PDIA6: Added comment: 2nd patient with large polycystic kidneys, death and end stage renal failure at 18 months, microcephaly, bilateral inguinal hernias, umbilical hernia, developmental delay, bilateral sensorineural hearing loss, visual impairment, steatorrhea, fibrotic changes in liver, and insulin-dependent diabetes. WGS found homozygous stop-gain variant (Tyr368*) in PDIA6. Segregation not performed.; Changed rating: AMBER; Changed publications: PMID: 35856135; Changed phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly
Ciliopathies v1.37 PDIA6 Chirag Patel reviewed gene: PDIA6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35856135; Phenotypes: Polycystic kidney disease, infancy-onset diabetes, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Classified gene: CLEC3B as Green List (high evidence)
Macular Dystrophy/Stargardt Disease v0.40 CLEC3B Chirag Patel Gene: clec3b has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.39 CLEC3B Chirag Patel gene: CLEC3B was added
gene: CLEC3B was added to Macular Dystrophy/Stargardt Disease. Sources: Literature
Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLEC3B were set to PMID: 35331648
Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4, OMIM #619977
Review for gene: CLEC3B was set to GREEN
Added comment: 12 affected individuals from 5 multigenerational Japanese families in a small village in Miyazaki diagnosed with autosomal dominant maculoretinopathy. WES identified a pathogenic variant (p.Ala180Asp) in CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Variant cosegregated with the ocular phenotype.

Mice that received subretinal injections with CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. The optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in the mice.
Sources: Literature
BabyScreen+ newborn screening v0.950 EPS8 Zornitza Stark Marked gene: EPS8 as ready
BabyScreen+ newborn screening v0.950 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.950 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from deafness MIM#600205 to Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428
BabyScreen+ newborn screening v0.949 EPS8 Zornitza Stark edited their review of gene: EPS8: Changed rating: GREEN
BabyScreen+ newborn screening v0.949 EPS8 Zornitza Stark reviewed gene: EPS8: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102, MIM# MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.949 EPM2A Zornitza Stark Marked gene: EPM2A as ready
BabyScreen+ newborn screening v0.949 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.949 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Lafora disease MONDO:0009697
BabyScreen+ newborn screening v0.948 EPM2A Zornitza Stark Classified gene: EPM2A as Red List (low evidence)
BabyScreen+ newborn screening v0.948 EPM2A Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.947 EPM2A Zornitza Stark reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.947 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
BabyScreen+ newborn screening v0.947 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.947 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from Arterial calcification, generalized, of infancy, 1 to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
BabyScreen+ newborn screening v0.946 ENPP1 Zornitza Stark changed review comment from: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements; to: Bi-allelic variants:
GACI: well established gene-disease association, multiple families and mouse models.

Hypophosphataemic rickets: multiple families reported, some with features of GACI.

Reported variants are spread throughout the phosphodiesterase catalytic domain and nuclease-like domain. No genotype-phenotype correlation, variability even within the same family. These likely represent a spectrum of a single disorder, rather than two distinct disorders.

Should be able to distinguish clinically.

Onset is congenital/early infancy.

Treatment: etidronate, anti-hypertensive, calcitriol and oral phosphate supplements
BabyScreen+ newborn screening v0.946 ENPP1 Zornitza Stark Tag treatable tag was added to gene: ENPP1.
BabyScreen+ newborn screening v0.946 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.476 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092
Microcephaly v1.172 ARPC4 Zornitza Stark Marked gene: ARPC4 as ready
Microcephaly v1.172 ARPC4 Zornitza Stark Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v1.475 ARPC4 Zornitza Stark reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047857; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.172 ARPC4 Zornitza Stark Phenotypes for gene: ARPC4 were changed from Microcephaly; mild motor delays; significant speech impairment to Neurodevelopmental disorder, ARPC4-related MONDO#0700092
Microcephaly v1.171 ARPC4 Zornitza Stark Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Microcephaly v1.170 ARPC4 Zornitza Stark edited their review of gene: ARPC4: Changed publications: 35047857
Microcephaly v1.170 ARPC4 Zornitza Stark reviewed gene: ARPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, ARPC4-related MONDO#0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v1.18 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555; 34494111
Brain Calcification v1.17 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from Basal ganglia calcification, idiopathic, 4, MIM# 615007 to Basal ganglia calcification, idiopathic, 4, MIM# 615007; MONDO:0014004
Brain Calcification v1.16 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to 31004414; 30979360; 32613555
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Marked gene: TTC7A as ready
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.946 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
BabyScreen+ newborn screening v0.945 TTC7A Zornitza Stark Classified gene: TTC7A as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.945 TTC7A Zornitza Stark Gene: ttc7a has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.944 TTC7A Zornitza Stark Tag for review tag was added to gene: TTC7A.
BabyScreen+ newborn screening v0.944 TTC37 Zornitza Stark Marked gene: TTC37 as ready
BabyScreen+ newborn screening v0.944 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.944 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome to Trichohepatoenteric syndrome 1, MIM#222470
BabyScreen+ newborn screening v0.943 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
BabyScreen+ newborn screening v0.942 TTC37 Zornitza Stark Classified gene: TTC37 as Red List (low evidence)
BabyScreen+ newborn screening v0.942 TTC37 Zornitza Stark Gene: ttc37 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Marked gene: TTC21B as ready
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.941 TTC21B Zornitza Stark Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341
BabyScreen+ newborn screening v0.940 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.939 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
BabyScreen+ newborn screening v0.939 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.938 TSR2 Zornitza Stark Marked gene: TSR2 as ready
BabyScreen+ newborn screening v0.938 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.938 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
BabyScreen+ newborn screening v0.937 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
BabyScreen+ newborn screening v0.937 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.936 TSHR Zornitza Stark Marked gene: TSHR as ready
BabyScreen+ newborn screening v0.936 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.936 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from Hypothyroidism to Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200
BabyScreen+ newborn screening v0.935 TSHR Zornitza Stark Publications for gene: TSHR were set to
BabyScreen+ newborn screening v0.934 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.933 TSHR Zornitza Stark Tag for review tag was added to gene: TSHR.
BabyScreen+ newborn screening v0.933 TSHB Zornitza Stark Marked gene: TSHB as ready
BabyScreen+ newborn screening v0.933 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.933 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4 to Hypothyroidism, congenital, nongoitrous 4, MIM#275100
BabyScreen+ newborn screening v0.932 TSHB Zornitza Stark Publications for gene: TSHB were set to
BabyScreen+ newborn screening v0.931 TSHB Zornitza Stark Tag treatable tag was added to gene: TSHB.
BabyScreen+ newborn screening v0.931 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
BabyScreen+ newborn screening v0.931 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.931 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4 to Pontocerebellar hypoplasia type 2A MIM#277470
BabyScreen+ newborn screening v0.930 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
BabyScreen+ newborn screening v0.929 TSEN54 Zornitza Stark Classified gene: TSEN54 as Red List (low evidence)
BabyScreen+ newborn screening v0.929 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Marked gene: TSC2 as ready
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.928 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
BabyScreen+ newborn screening v0.927 TSC2 Zornitza Stark Tag for review tag was added to gene: TSC2.
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Marked gene: TSC1 as ready
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.927 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
BabyScreen+ newborn screening v0.926 TSC1 Zornitza Stark Tag for review tag was added to gene: TSC1.
BabyScreen+ newborn screening v0.926 TRPM4 Zornitza Stark Marked gene: TRPM4 as ready
BabyScreen+ newborn screening v0.926 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.926 TRPM4 Zornitza Stark Phenotypes for gene: TRPM4 were changed from Cardiac conduction disease to Progressive familial heart block, type IB 604559
BabyScreen+ newborn screening v0.925 TRPM4 Zornitza Stark Publications for gene: TRPM4 were set to
BabyScreen+ newborn screening v0.924 TRPM4 Zornitza Stark Classified gene: TRPM4 as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.924 TRPM4 Zornitza Stark Gene: trpm4 has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.923 TRPM4 Zornitza Stark Tag for review tag was added to gene: TRPM4.
BabyScreen+ newborn screening v0.923 TRMU Zornitza Stark Marked gene: TRMU as ready
BabyScreen+ newborn screening v0.923 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.923 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile to Liver failure, transient infantile MIM# 613070
BabyScreen+ newborn screening v0.922 TRMU Zornitza Stark Publications for gene: TRMU were set to
BabyScreen+ newborn screening v0.921 TRMU Zornitza Stark Tag treatable tag was added to gene: TRMU.
BabyScreen+ newborn screening v0.921 TRIOBP Zornitza Stark Marked gene: TRIOBP as ready
BabyScreen+ newborn screening v0.921 TRIOBP Zornitza Stark Gene: triobp has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.921 TRIOBP Zornitza Stark Phenotypes for gene: TRIOBP were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 28, MIM#609823
BabyScreen+ newborn screening v0.920 TRIOBP Zornitza Stark Publications for gene: TRIOBP were set to
BabyScreen+ newborn screening v0.919 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
BabyScreen+ newborn screening v0.919 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.919 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism syndrome to Mulibrey nanism MIM#253250
BabyScreen+ newborn screening v0.918 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
BabyScreen+ newborn screening v0.917 TRIM37 Zornitza Stark Classified gene: TRIM37 as Red List (low evidence)
BabyScreen+ newborn screening v0.917 TRIM37 Zornitza Stark Gene: trim37 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.916 TRIM37 Zornitza Stark reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.916 ENG Zornitza Stark Publications for gene: ENG were set to
BabyScreen+ newborn screening v0.915 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
BabyScreen+ newborn screening v0.915 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed publications: 32894695
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark changed review comment from: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI).

For review.; to: Well established gene disease association.

Clingen: strong actionability in adults
Although HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.

However, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI). Management guidelines also suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark edited their review of gene: ENG: Changed rating: GREEN
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark Marked gene: ENG as ready
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.914 ENG Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
BabyScreen+ newborn screening v0.913 ENG Zornitza Stark Classified gene: ENG as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.913 ENG Zornitza Stark Gene: eng has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.912 ENG Zornitza Stark reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.912 EMD Zornitza Stark Marked gene: EMD as ready
BabyScreen+ newborn screening v0.912 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.912 EMD Zornitza Stark Phenotypes for gene: EMD were changed from Muscular dystrophy, Emery-Dreifuss to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
BabyScreen+ newborn screening v0.911 EMD Zornitza Stark Classified gene: EMD as Red List (low evidence)
BabyScreen+ newborn screening v0.911 EMD Zornitza Stark Gene: emd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.910 EMD Zornitza Stark Tag for review tag was added to gene: EMD.
BabyScreen+ newborn screening v0.910 EMD Zornitza Stark reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.910 ELP1 Zornitza Stark Marked gene: ELP1 as ready
BabyScreen+ newborn screening v0.910 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.910 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial to Dysautonomia, familial MIM#223900; paediatric medulloblastoma
BabyScreen+ newborn screening v0.909 ELP1 Zornitza Stark Mode of inheritance for gene: ELP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.908 ELP1 Zornitza Stark Classified gene: ELP1 as Red List (low evidence)
BabyScreen+ newborn screening v0.908 ELP1 Zornitza Stark Gene: elp1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.907 ELP1 Zornitza Stark reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Brain Calcification v1.15 PDGFRB Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34494111; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.907 ELN Zornitza Stark Marked gene: ELN as ready
BabyScreen+ newborn screening v0.907 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.907 ELN Zornitza Stark Phenotypes for gene: ELN were changed from Supravalvar aortic stenosis to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
BabyScreen+ newborn screening v0.906 ELN Zornitza Stark Classified gene: ELN as Red List (low evidence)
BabyScreen+ newborn screening v0.906 ELN Zornitza Stark Gene: eln has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.905 ELN Zornitza Stark reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.905 ELANE Zornitza Stark Marked gene: ELANE as ready
BabyScreen+ newborn screening v0.905 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.905 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from Neutropenia, congenital, MIM#202700 to Neutropenia, congenital, MIM#202700
BabyScreen+ newborn screening v0.904 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.904 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
BabyScreen+ newborn screening v0.904 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.904 EIF2AK3 Zornitza Stark reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.904 EGR2 Zornitza Stark Marked gene: EGR2 as ready
BabyScreen+ newborn screening v0.904 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.904 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253
BabyScreen+ newborn screening v0.903 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.902 EGR2 Zornitza Stark Classified gene: EGR2 as Red List (low evidence)
BabyScreen+ newborn screening v0.902 EGR2 Zornitza Stark Gene: egr2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.901 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678, Dejerine-Sottas disease 145900, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.901 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
BabyScreen+ newborn screening v0.901 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.901 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis with microcephaly to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536
BabyScreen+ newborn screening v0.900 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.900 EFL1 Zornitza Stark Marked gene: EFL1 as ready
BabyScreen+ newborn screening v0.900 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.900 EFL1 Zornitza Stark edited their review of gene: EFL1: Changed rating: GREEN
BabyScreen+ newborn screening v0.900 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.900 EDNRB Zornitza Stark Marked gene: EDNRB as ready
BabyScreen+ newborn screening v0.900 EDNRB Zornitza Stark Gene: ednrb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.900 EDNRB Zornitza Stark reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome type 4A MONDO:0010192; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.900 EDN3 Zornitza Stark Marked gene: EDN3 as ready
BabyScreen+ newborn screening v0.900 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.900 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 4B, MIM# 613265
BabyScreen+ newborn screening v0.899 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.899 EDARADD Zornitza Stark Marked gene: EDARADD as ready
BabyScreen+ newborn screening v0.899 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.899 EDARADD Zornitza Stark Phenotypes for gene: EDARADD were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
BabyScreen+ newborn screening v0.898 EDARADD Zornitza Stark Mode of inheritance for gene: EDARADD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.897 EDARADD Zornitza Stark Classified gene: EDARADD as Red List (low evidence)
BabyScreen+ newborn screening v0.897 EDARADD Zornitza Stark Gene: edaradd has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.896 EDARADD Zornitza Stark reviewed gene: EDARADD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.896 EDAR Zornitza Stark Marked gene: EDAR as ready
BabyScreen+ newborn screening v0.896 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.896 EDAR Zornitza Stark Phenotypes for gene: EDAR were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
BabyScreen+ newborn screening v0.895 EDAR Zornitza Stark Classified gene: EDAR as Red List (low evidence)
BabyScreen+ newborn screening v0.895 EDAR Zornitza Stark Gene: edar has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.894 EDAR Zornitza Stark reviewed gene: EDAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.894 EDA Zornitza Stark Marked gene: EDA as ready
BabyScreen+ newborn screening v0.894 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.894 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia, hypohidrotic to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
BabyScreen+ newborn screening v0.893 EDA Zornitza Stark Classified gene: EDA as Red List (low evidence)
BabyScreen+ newborn screening v0.893 EDA Zornitza Stark Gene: eda has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.892 EDA Zornitza Stark reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.892 DYSF Zornitza Stark Marked gene: DYSF as ready
BabyScreen+ newborn screening v0.892 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.892 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768
BabyScreen+ newborn screening v0.891 DYSF Zornitza Stark Classified gene: DYSF as Red List (low evidence)
BabyScreen+ newborn screening v0.891 DYSF Zornitza Stark Gene: dysf has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.890 DYSF Zornitza Stark reviewed gene: DYSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 254130, Muscular dystrophy, limb-girdle, autosomal recessive 2 253601, Myopathy, distal, with anterior tibial onset 606768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
BabyScreen+ newborn screening v0.890 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.890 DUOXA2 Zornitza Stark Tag treatable tag was added to gene: DUOXA2.
BabyScreen+ newborn screening v0.890 DUOXA2 Zornitza Stark reviewed gene: DUOXA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.475 SPTBN5 Zornitza Stark Classified gene: SPTBN5 as Red List (low evidence)
Mendeliome v1.475 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Mendeliome v1.474 SPTBN5 Zornitza Stark edited their review of gene: SPTBN5: Added comment: Some of the missense variants are present at high population frequencies, not compatible with Mendelian disease. Gene is tolerant of LoF in gnomad, raising questions about the pathogenicity of the LoF variant.
Commentaries questioning gene-disease relationship PMID: 36117916; 36238261; Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.5028 SPTBN5 Zornitza Stark Publications for gene: SPTBN5 were set to 35782384
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Tag disputed tag was added to gene: SPTBN5.
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Classified gene: SPTBN5 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5027 SPTBN5 Zornitza Stark Gene: sptbn5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5026 SPTBN5 Zornitza Stark reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Mode of inheritance: None
Mendeliome v1.474 MTSS1 Zornitza Stark Mode of inheritance for gene: MTSS1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.473 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.473 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Mendeliome v1.473 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Mendeliome v1.473 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Mendeliome v1.473 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Mendeliome v1.472 MTSS1 Zornitza Stark gene: MTSS1 was added
gene: MTSS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MTSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTSS1 were set to 36067766
Phenotypes for gene: MTSS1 were set to Intellectual disability, MTSS1-related (MONDO#0001071)
Review for gene: MTSS1 was set to GREEN
Added comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.

The individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.

Immunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5026 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5025 MTSS1 Zornitza Stark reviewed gene: MTSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - paediatric v1.3 TPR Zornitza Stark Marked gene: TPR as ready
Ataxia - paediatric v1.3 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Ataxia - paediatric v1.3 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark Marked gene: TPR as ready
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5025 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Microcephaly v1.170 TPR Zornitza Stark Marked gene: TPR as ready
Microcephaly v1.170 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Microcephaly v1.170 TPR Zornitza Stark gene: TPR was added
gene: TPR was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Review for gene: TPR was set to RED
Added comment: Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability. Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.
Sources: Literature
Microcephaly v1.169 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.169 MTSS1 Zornitza Stark Marked gene: MTSS1 as ready
Microcephaly v1.169 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Microcephaly v1.169 MTSS1 Zornitza Stark Classified gene: MTSS1 as Green List (high evidence)
Microcephaly v1.169 MTSS1 Zornitza Stark Gene: mtss1 has been classified as Green List (High Evidence).
Microcephaly v1.168 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Added comment: Five individuals with the same heterozygous de novo variant in MTSS2 (NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing.

The individuals presented with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms.

Immunoblots of fibroblasts from two affected individuals revealed that the variant does not significantly alter MTSS2 levels. We modeled the variant in Drosophila and showed that the fly ortholog missing-in-metastasis (mim) was widely expressed in most neurons and a subset of glia of the CNS. Loss of mim led to a reduction in lifespan, impaired locomotor behavior, and reduced synaptic transmission in adult flies. Expression of the human MTSS2 reference cDNA rescued the mim loss-of-function (LoF) phenotypes, whereas the c.2011C>T variant had decreased rescue ability compared to the reference, suggesting it is a partial LoF allele. However, elevated expression of the variant, but not the reference MTSS2 cDNA, led to similar defects as observed by mim LoF, suggesting that the variant is toxic and may act as a dominant-negative allele when expressed in flies.; Changed rating: GREEN
Microcephaly v1.168 MTSS1 Zornitza Stark edited their review of gene: MTSS1: Changed phenotypes: Intellectual disability, MTSS1-related (MONDO#0001071)
Microcephaly v1.168 MTSS1 Zornitza Stark reviewed gene: MTSS1: Rating: RED; Mode of pathogenicity: None; Publications: 36067766; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.471 TPR Zornitza Stark Phenotypes for gene: TPR were changed from intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149 to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related
Mendeliome v1.470 TPR Zornitza Stark reviewed gene: TPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.470 TPR Zornitza Stark Marked gene: TPR as ready
Mendeliome v1.470 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Mendeliome v1.470 TPR Zornitza Stark Classified gene: TPR as Red List (low evidence)
Mendeliome v1.470 TPR Zornitza Stark Gene: tpr has been classified as Red List (Low Evidence).
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark changed review comment from: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature; to: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.

Increased chromosome breakage is a feature.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5024 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5023 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Growth failure v1.55 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.55 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.54 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Chromosome Breakage Disorders v1.15 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.14 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Mendeliome v1.469 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Mendeliome v1.469 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Mendeliome v1.469 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Mendeliome v1.469 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Mendeliome v1.468 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green
Sources: Literature
Microcephaly v1.168 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Microcephaly v1.168 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Microcephaly v1.168 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Microcephaly v1.168 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Microcephaly v1.167 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Mendeliome v1.467 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Mendeliome v1.467 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Mendeliome v1.467 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Mendeliome v1.467 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Mendeliome v1.466 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Chromosome Breakage Disorders v1.13 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.12 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Chromosome Breakage Disorders. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.

Increased chromosome breakage is a feature of this disorder.
Sources: Literature
Growth failure v1.53 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.53 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.52 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5022 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5021 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Microcephaly v1.166 SLF2 Zornitza Stark Phenotypes for gene: SLF2 were changed from Atelis syndrome; microcephaly; short stature; ID to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Microcephaly v1.165 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related, Atelis syndrome, microcephaly, short stature, ID
Microcephaly v1.165 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Multiple congenital anomalies/dysmorphic syndrome, SLF2-related, Atelis syndrome, microcephaly, short stature, ID
Microcephaly v1.165 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Microcephaly v1.165 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Microcephaly v1.165 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Microcephaly v1.165 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Microcephaly v1.164 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Mendeliome v1.465 TPR Achchuthan Shanmugasundram gene: TPR was added
gene: TPR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPR were set to 34494102
Phenotypes for gene: TPR were set to intellectual disability, MONDO:0001071; cerebellar ataxia, MONDO:0000437; microcephaly, MONDO:0001149
Review for gene: TPR was set to RED
Added comment: This gene should be added to the following diseases: Intellectual disability, microcephaly and ataxia.

Comment on classification of this gene: This gene should be added with a RED rating as the association is based on biallelic variants identified from a report of two siblings.

Two siblings harbouring variants c.6625C>T/ p.Arg2209Ter (identified in heterozygous state in both siblings and father) and c.2610 + 5G > A (identified in heterozygous state in both siblings and mother) were reported with ataxia, microcephaly and severe intellectual disability.

Functional analyses in patient fibroblasts provide evidence that the variants affect TPR splicing, reduce steady-state TPR levels, abnormal nuclear pore composition and density, and altered global RNA distribution.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Mendeliome v1.465 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34476477; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, MONDO:0018975, renovascular hypertension, MONDO:0006947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
BabyScreen+ newborn screening v0.890 TRIM37 Lilian Downie reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 7735507, PMID: 30586926; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TRIOBP Lilian Downie reviewed gene: TRIOBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16385457, 16385458; Phenotypes: Deafness, autosomal recessive 28 MIM#609823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TRMU Lilian Downie edited their review of gene: TRMU: Changed rating: GREEN
BabyScreen+ newborn screening v0.890 TRMU Lilian Downie changed review comment from: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation; to: Established gene disease association
Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
BabyScreen+ newborn screening v0.890 TRMU Lilian Downie Deleted their comment
BabyScreen+ newborn screening v0.890 TRMU Lilian Downie commented on gene: TRMU: Onset first 6 months of life
Acute liver failure, transient
Treatment: N-acetylcysteine and L-cysteine, liver transplantation
BabyScreen+ newborn screening v0.890 TRMU Lilian Downie reviewed gene: TRMU: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 19732863, PMID: 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TRPM4 Lilian Downie reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 19726882, PMID: 33381229; Phenotypes: Progressive familial heart block, type IB 604559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.890 TSC1 Lilian Downie reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301399; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.890 TSC2 Lilian Downie reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21309039, PMID: 11112665, PMID: 24053983 , PMID: 20301399; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.890 TSEN54 Lilian Downie reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TSHB Lilian Downie reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31166470, PMID: 35102753, MID: 31384098; Phenotypes: Hypothyroidism, congenital, nongoitrous 4 MIM#275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TSHR Lilian Downie reviewed gene: TSHR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8981017, PMID: 20515734; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL HYPERTHYROIDISM, NONAUTOIMMUNE HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CHNG1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TSR2 Lilian Downie reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24942156, 11424144; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MIM#300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.890 TTC21B Lilian Downie reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21258341, PMID: 25492405, PMID: 33547761; Phenotypes: NEPHRONOPHTHISIS, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TTC37 Lilian Downie reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29527791, PMID: 29334452; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.890 TTC7A Lilian Downie reviewed gene: TTC7A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30553809, PMID: 34975848, PMID: 33746097; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome MIM#243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5020 SPTBN5 Chern Lim reviewed gene: SPTBN5: Rating: ; Mode of pathogenicity: Other; Publications: 36117916, 36238261; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.465 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798
Mendeliome v1.464 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Mendeliome v1.464 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Mendeliome v1.463 IRF2BP2 Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765
Predominantly Antibody Deficiency v0.124 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Predominantly Antibody Deficiency v0.123 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Predominantly Antibody Deficiency v0.122 IRF2BP2 Zornitza Stark edited their review of gene: IRF2BP2: Added comment: Reports of additional patients: 4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia. The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.; Changed rating: GREEN; Changed publications: 27016798, 32048120, 36193988, 33864888; Changed phenotypes: Immunodeficiency, common variable, 14, MIM# 617765
Common Variable Immunodeficiency v1.3 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798; 32048120
Common Variable Immunodeficiency v1.2 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Common Variable Immunodeficiency v1.2 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5020 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Intellectual disability syndromic and non-syndromic v0.5019 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1802 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Genetic Epilepsy v0.1801 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.463 MAST3 Zornitza Stark Phenotypes for gene: MAST3 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.462 MAST3 Zornitza Stark edited their review of gene: MAST3: Changed phenotypes: Developmental and epileptic encephalopathy 108, MIM#620115
Mendeliome v1.462 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mendeliome v1.462 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mendeliome v1.462 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mendeliome v1.461 DUOX2 Zornitza Stark Classified gene: DUOX2 as Green List (high evidence)
Mendeliome v1.461 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Congenital hypothyroidism v0.35 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
BabyScreen+ newborn screening v0.890 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
BabyScreen+ newborn screening v0.890 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.890 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 6, MIM# 607200
BabyScreen+ newborn screening v0.889 DUOX2 Zornitza Stark Tag treatable tag was added to gene: DUOX2.
BabyScreen+ newborn screening v0.889 DUOX2 Zornitza Stark reviewed gene: DUOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 6, MIM# 607200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.889 DOK7 Zornitza Stark Marked gene: DOK7 as ready
BabyScreen+ newborn screening v0.889 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.889 DOK7 Zornitza Stark Tag treatable tag was added to gene: DOK7.
BabyScreen+ newborn screening v0.889 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v1.0 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
Mendeliome v1.460 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
BabyScreen+ newborn screening v0.889 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
BabyScreen+ newborn screening v0.889 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.889 DOCK8 Zornitza Stark Tag treatable tag was added to gene: DOCK8.
BabyScreen+ newborn screening v0.889 DOCK8 Zornitza Stark reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.29 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Predominantly Antibody Deficiency v0.122 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Mendeliome v1.460 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
Chromosome Breakage Disorders v1.11 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
BabyScreen+ newborn screening v0.889 DNMT3B Zornitza Stark Tag treatable tag was added to gene: DNMT3B.
BabyScreen+ newborn screening v0.889 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
BabyScreen+ newborn screening v0.889 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.889 DNMT3B Zornitza Stark Phenotypes for gene: DNMT3B were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 1 to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
BabyScreen+ newborn screening v0.888 DNMT3B Zornitza Stark reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Marked gene: DNM2 as ready
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.888 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
BabyScreen+ newborn screening v0.887 DNM2 Zornitza Stark Classified gene: DNM2 as Red List (low evidence)
BabyScreen+ newborn screening v0.887 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.886 DNM2 Zornitza Stark reviewed gene: DNM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.886 DNAJB6 Zornitza Stark Marked gene: DNAJB6 as ready
BabyScreen+ newborn screening v0.886 DNAJB6 Zornitza Stark Gene: dnajb6 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.886 DNAJB6 Zornitza Stark Phenotypes for gene: DNAJB6 were changed from Muscular dystrophy, limb girdle to Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511
BabyScreen+ newborn screening v0.885 DNAJB6 Zornitza Stark reviewed gene: DNAJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.885 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
BabyScreen+ newborn screening v0.885 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.885 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
BabyScreen+ newborn screening v0.884 DNAI1 Zornitza Stark Classified gene: DNAI1 as Red List (low evidence)
BabyScreen+ newborn screening v0.884 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.883 DNAI1 Zornitza Stark reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.883 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
BabyScreen+ newborn screening v0.883 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.883 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644
BabyScreen+ newborn screening v0.882 DNAH5 Zornitza Stark Classified gene: DNAH5 as Red List (low evidence)
BabyScreen+ newborn screening v0.882 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.881 DNAH5 Zornitza Stark reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.881 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
BabyScreen+ newborn screening v0.881 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.881 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
BabyScreen+ newborn screening v0.880 DNAH11 Zornitza Stark Classified gene: DNAH11 as Red List (low evidence)
BabyScreen+ newborn screening v0.880 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.879 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.879 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
BabyScreen+ newborn screening v0.879 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.879 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 13, MIM# 613193
BabyScreen+ newborn screening v0.878 DNAAF1 Zornitza Stark Classified gene: DNAAF1 as Red List (low evidence)
BabyScreen+ newborn screening v0.878 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.877 DNAAF1 Zornitza Stark reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 13, MIM# 613193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.877 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
BabyScreen+ newborn screening v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.877 DMXL2 Zornitza Stark Classified gene: DMXL2 as Red List (low evidence)
BabyScreen+ newborn screening v0.877 DMXL2 Zornitza Stark Gene: dmxl2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.876 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 81, MIM# 618663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.876 DMP1 Zornitza Stark Marked gene: DMP1 as ready
BabyScreen+ newborn screening v0.876 DMP1 Zornitza Stark Gene: dmp1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.876 DMP1 Zornitza Stark Phenotypes for gene: DMP1 were changed from Hypophosphatemic rickets, AR to Hypophosphatemic rickets MIM#241520
BabyScreen+ newborn screening v0.875 DMP1 Zornitza Stark reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets MIM#241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.875 DLL3 Zornitza Stark Marked gene: DLL3 as ready
BabyScreen+ newborn screening v0.875 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.875 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis, autosomal recessive, 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
BabyScreen+ newborn screening v0.874 DLL3 Zornitza Stark Classified gene: DLL3 as Red List (low evidence)
BabyScreen+ newborn screening v0.874 DLL3 Zornitza Stark Gene: dll3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.873 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.873 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
BabyScreen+ newborn screening v0.873 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.873 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
BabyScreen+ newborn screening v0.872 DIAPH1 Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.871 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence)
BabyScreen+ newborn screening v0.871 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.870 DIAPH1 Zornitza Stark reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632, Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.870 DFNB59 Zornitza Stark Marked gene: DFNB59 as ready
BabyScreen+ newborn screening v0.870 DFNB59 Zornitza Stark Gene: dfnb59 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.870 DFNB59 Zornitza Stark Phenotypes for gene: DFNB59 were changed from Hearing loss to Deafness, autosomal recessive 59, MIM# 610220
BabyScreen+ newborn screening v0.869 DFNB59 Zornitza Stark Tag new gene name tag was added to gene: DFNB59.
BabyScreen+ newborn screening v0.869 DFNB59 Zornitza Stark commented on gene: DFNB59: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.

New HGNC name is PJVK.

Hearing loss is pre-lingual, therefore include.

Treatment: hearing aids/cochlear implant.
BabyScreen+ newborn screening v0.869 DFNB59 Zornitza Stark reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.869 DFNA5 Zornitza Stark Marked gene: DFNA5 as ready
BabyScreen+ newborn screening v0.869 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.869 DFNA5 Zornitza Stark Phenotypes for gene: DFNA5 were changed from Hearing loss to Deafness, autosomal dominant 5, MIM# 600994
BabyScreen+ newborn screening v0.868 DFNA5 Zornitza Stark Classified gene: DFNA5 as Red List (low evidence)
BabyScreen+ newborn screening v0.868 DFNA5 Zornitza Stark Gene: dfna5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.867 DFNA5 Zornitza Stark Tag new gene name tag was added to gene: DFNA5.
BabyScreen+ newborn screening v0.867 DFNA5 Zornitza Stark commented on gene: DFNA5: Assessed as DEFINITIVE by ClinGen, over a 150 affected individuals reported, supportive functional data including animal models.

New HGNC approved name is GSDME.

However, age of onset is typically 11-50, therefore exclude.
BabyScreen+ newborn screening v0.867 DFNA5 Zornitza Stark reviewed gene: DFNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.274 APOB Zornitza Stark Marked gene: APOB as ready
Additional findings_Paediatric v0.274 APOB Zornitza Stark Gene: apob has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.274 APOB Zornitza Stark Phenotypes for gene: APOB were changed from Apolipoprotein B deficiency to Hypercholesterolaemia, familial, 2, MIM# 144010; Hypobetalipoproteinaemia 615558
Additional findings_Paediatric v0.273 APOB Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Additional findings_Paediatric v0.272 APOB Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 2, MIM# 144010, Hypobetalipoproteinaemia 615558; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Skeletal Dysplasia_Fetal v0.201 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Skeletal Dysplasia_Fetal v0.200 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Skeletal Dysplasia_Fetal v0.198 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Skeletal Dysplasia_Fetal v0.197 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800
Skeletal Dysplasia_Fetal v0.195 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Skeletal Dysplasia_Fetal v0.193 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Skeletal Dysplasia_Fetal v0.191 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Skeletal Dysplasia_Fetal v0.189 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Skeletal Dysplasia_Fetal v0.187 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Classified gene: MEOX1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Classified gene: MATN3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Classified gene: LTBP3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Marked gene: GSC as ready
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Classified gene: GSC as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Classified gene: GPC6 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 MEOX1 Krithika Murali gene: MEOX1 was added
gene: MEOX1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEOX1 were set to 24073994; 23290072
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Review for gene: MEOX1 was set to GREEN
Added comment: Review from fetal anomalies panel:

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. 3 families with multiple affected individuals and homozygous variants segregating fully with the disease. meox1cho mutant zebrafish show vertebral fusion, congenital scoliosis and asymmetry of pectoral girdle, which resembles Sprengel's deformity.
Sources: Literature
Fetal anomalies v1.76 MBTPS1 Krithika Murali reviewed gene: MBTPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.177 MBTPS1 Krithika Murali gene: MBTPS1 was added
gene: MBTPS1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Review for gene: MBTPS1 was set to GREEN
Added comment: Review from fetal anomalies panel: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 MATN3 Krithika Murali gene: MATN3 was added
gene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835
Phenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Review for gene: MATN3 was set to GREEN
Added comment: Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LTBP3 Krithika Murali gene: LTBP3 was added
gene: LTBP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LTBP3 were set to PMID: 27068007
Phenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 - MIM#617809
Review for gene: LTBP3 was set to GREEN
Added comment: Antenatal findings of disproportionately restricted length and shortened long bones described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LONP1 Krithika Murali gene: LONP1 was added
gene: LONP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826
Phenotypes for gene: LONP1 were set to CODAS syndrome - MIM#600373
Review for gene: LONP1 was set to GREEN
Added comment: Prenatal identification of shortened long bones reported.
Sources: Literature
Common Variable Immunodeficiency v1.1 IRF2BP2 Peter McNaughton reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36193988, PMID: 33864888; Phenotypes: common variable immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v1.51 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.51 UBR1 Zornitza Stark Classified gene: UBR1 as Green List (high evidence)
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.50 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, MIM# 243800
Review for gene: UBR1 was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Growth failure v1.49 SBDS Zornitza Stark Marked gene: SBDS as ready
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.49 SBDS Zornitza Stark Classified gene: SBDS as Green List (high evidence)
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.48 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 1, MIM# 260400
Review for gene: SBDS was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Severe Combined Immunodeficiency (absent T absent B cells) v1.1 LIG1 Peter McNaughton gene: LIG1 was added
gene: LIG1 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to PMID: 33025376; PMID: 36341401
Phenotypes for gene: LIG1 were set to Severe combined immunodeficiency
Review for gene: LIG1 was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5019 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Genetic Epilepsy v0.1801 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Mendeliome v1.460 CACNA1I Zornitza Stark Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114
Mendeliome v1.459 CACNA1I Zornitza Stark reviewed gene: CACNA1I: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.459 RPS6KB1 Arina Puzriakova gene: RPS6KB1 was added
gene: RPS6KB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS6KB1 were set to 34916228
Phenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy
Review for gene: RPS6KB1 was set to GREEN
Added comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640)
Sources: Literature
Polydactyly v0.263 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Polydactyly v0.263 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Polydactyly v0.263 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Polydactyly v0.263 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Marked gene: IHH as ready
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Classified gene: IHH as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Classified gene: KIF5B as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Mendeliome v1.459 HK1 Zornitza Stark Tag deep intronic tag was added to gene: HK1.
Hyperinsulinism v1.3 HK1 Zornitza Stark Tag deep intronic tag was added to gene: HK1.
Mendeliome v1.459 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: PMID 36333503: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571, 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related, Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460
Hyperinsulinism v1.3 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177, HK1-related
Hyperinsulinism v1.2 HK1 Zornitza Stark Publications for gene: HK1 were set to 23859901
Hyperinsulinism v1.1 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Hyperinsulinism v1.1 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hyperinsulinism v1.0 HK1 Zornitza Stark changed review comment from: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; to: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.
Hyperinsulinism v1.0 HK1 Zornitza Stark edited their review of gene: HK1: Added comment: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; Changed publications: 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.867 PALB2 Zornitza Stark Tag for review was removed from gene: PALB2.
BabyScreen+ newborn screening v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.

Keep on Amber list.
BabyScreen+ newborn screening v0.867 GFAP Zornitza Stark changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.
BabyScreen+ newborn screening v0.867 SCN8A Zornitza Stark Classified gene: SCN8A as Red List (low evidence)
BabyScreen+ newborn screening v0.867 SCN8A Zornitza Stark Gene: scn8a has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.866 SCN8A Zornitza Stark Tag for review was removed from gene: SCN8A.
BabyScreen+ newborn screening v0.866 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.866 NPC2 Zornitza Stark Tag for review was removed from gene: NPC2.
BabyScreen+ newborn screening v0.866 MYO6 Zornitza Stark Tag for review was removed from gene: MYO6.
BabyScreen+ newborn screening v0.866 PAX6 Zornitza Stark Tag for review was removed from gene: PAX6.
BabyScreen+ newborn screening v0.866 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
BabyScreen+ newborn screening v0.866 NBN Zornitza Stark Tag for review was removed from gene: NBN.
BabyScreen+ newborn screening v0.866 TYR Zornitza Stark Tag for review was removed from gene: TYR.
BabyScreen+ newborn screening v0.866 TYR Zornitza Stark changed review comment from: Treatment is supportive.

For review.; to: Diagnosis is clinical. Treatment is supportive.
BabyScreen+ newborn screening v0.866 APC Zornitza Stark Classified gene: APC as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.866 APC Zornitza Stark Gene: apc has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.865 APC Zornitza Stark Tag for review was removed from gene: APC.
BabyScreen+ newborn screening v0.865 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
BabyScreen+ newborn screening v0.865 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.864 LAMA2 Zornitza Stark Tag pharmacogenomic tag was added to gene: LAMA2.
BabyScreen+ newborn screening v0.864 LAMA2 Zornitza Stark edited their review of gene: LAMA2: Changed rating: GREEN
BabyScreen+ newborn screening v0.864 LAMA2 Zornitza Stark changed review comment from: No specific treatment.; to: No specific treatment.
Succinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.
BabyScreen+ newborn screening v0.864 LAMA2 Zornitza Stark Tag for review was removed from gene: LAMA2.
BabyScreen+ newborn screening v0.864 DGUOK Zornitza Stark Tag for review was removed from gene: DGUOK.
BabyScreen+ newborn screening v0.864 DGUOK Zornitza Stark changed review comment from: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches.

For review.; to: Well established gene disease association.

Variable age of onset ranging from severe neonatal presentations to adult.

See comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.

For review.
BabyScreen+ newborn screening v0.864 ALAS2 Zornitza Stark Tag for review was removed from gene: ALAS2.
BabyScreen+ newborn screening v0.864 DDB2 Zornitza Stark Marked gene: DDB2 as ready
BabyScreen+ newborn screening v0.864 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.864 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
BabyScreen+ newborn screening v0.863 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
BabyScreen+ newborn screening v0.863 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.862 ACVRL1 Zornitza Stark Tag for review was removed from gene: ACVRL1.
BabyScreen+ newborn screening v0.862 ACVRL1 Zornitza Stark changed review comment from: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available.

However, management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.; to: Well established gene-disease association.

Variable age of symptom onset and severity.

No specific treatment available but emboli zing AVMs alters their natural history.

Management guidelines suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.
BabyScreen+ newborn screening v0.862 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN
BabyScreen+ newborn screening v0.862 PCBD1 Zornitza Stark Tag for review was removed from gene: PCBD1.
BabyScreen+ newborn screening v0.862 PCBD1 Zornitza Stark changed review comment from: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
; to: Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.
BabyScreen+ newborn screening v0.862 GFPT1 Zornitza Stark Marked gene: GFPT1 as ready
BabyScreen+ newborn screening v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.862 GFPT1 Zornitza Stark Classified gene: GFPT1 as Red List (low evidence)
BabyScreen+ newborn screening v0.862 GFPT1 Zornitza Stark Gene: gfpt1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.861 GFPT1 Zornitza Stark reviewed gene: GFPT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.861 GFPT1 Zornitza Stark Tag for review was removed from gene: GFPT1.
BabyScreen+ newborn screening v0.861 GFM1 Zornitza Stark Marked gene: GFM1 as ready
BabyScreen+ newborn screening v0.861 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.861 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from Combined oxidative phosphorylation deficiency 1 to Combined oxidative phosphorylation deficiency 1, MIM#609060
BabyScreen+ newborn screening v0.860 GFM1 Zornitza Stark Classified gene: GFM1 as Red List (low evidence)
BabyScreen+ newborn screening v0.860 GFM1 Zornitza Stark Gene: gfm1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.859 GFM1 Zornitza Stark reviewed gene: GFM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.859 GFAP Zornitza Stark Marked gene: GFAP as ready
BabyScreen+ newborn screening v0.859 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.859 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from Alexander disease to Alexander disease, MIM#203450
BabyScreen+ newborn screening v0.858 GFAP Zornitza Stark Classified gene: GFAP as Amber List (moderate evidence)
BabyScreen+ newborn screening v0.858 GFAP Zornitza Stark Gene: gfap has been classified as Amber List (Moderate Evidence).
BabyScreen+ newborn screening v0.857 GFAP Zornitza Stark Tag for review was removed from gene: GFAP.
Tag clinical trial tag was added to gene: GFAP.
BabyScreen+ newborn screening v0.857 GFAP Zornitza Stark reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.857 PALB2 Zornitza Stark Marked gene: PALB2 as ready
BabyScreen+ newborn screening v0.857 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.857 PALB2 Zornitza Stark reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, OMIM 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.857 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
BabyScreen+ newborn screening v0.857 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes but some improvement seen in metabolic parameters, and behavioural manifestations.
BabyScreen+ newborn screening v0.856 DHCR7 Zornitza Stark changed review comment from: Well established gene-disease association.

Perinatal onset.

Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.; to: Well established gene-disease association.

Perinatal onset.

Cholesterol supplementation accepted as standard treatment. Questionable to what extent treatment improves outcomes. Not listed as treatable on rx-genes.

For review.
BabyScreen+ newborn screening v0.856 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
BabyScreen+ newborn screening v0.856 DHCR7 Zornitza Stark Tag for review was removed from gene: DHCR7.
BabyScreen+ newborn screening v0.856 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Red List (low evidence)
BabyScreen+ newborn screening v0.856 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.855 SERPINA1 Zornitza Stark Tag for review was removed from gene: SERPINA1.
BabyScreen+ newborn screening v0.855 SERPINA1 Zornitza Stark reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.855 UROD Zornitza Stark Classified gene: UROD as Red List (low evidence)
BabyScreen+ newborn screening v0.855 UROD Zornitza Stark Gene: urod has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.854 DDB2 Zornitza Stark Phenotypes for gene: DDB2 were changed from Xeroderma pigmentosum to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740
BabyScreen+ newborn screening v0.853 DDB2 Zornitza Stark Publications for gene: DDB2 were set to
BabyScreen+ newborn screening v0.852 DDB2 Zornitza Stark Classified gene: DDB2 as Red List (low evidence)
BabyScreen+ newborn screening v0.852 DDB2 Zornitza Stark Gene: ddb2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.851 DDB2 Zornitza Stark edited their review of gene: DDB2: Changed rating: RED
BabyScreen+ newborn screening v0.851 GFPT1 Alison Yeung Tag for review tag was added to gene: GFPT1.
BabyScreen+ newborn screening v0.851 GFPT1 Alison Yeung reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates, MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.851 GFM1 Alison Yeung Tag review tag was added to gene: GFM1.
BabyScreen+ newborn screening v0.851 GFM1 Alison Yeung reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.851 GFAP Alison Yeung Tag for review tag was added to gene: GFAP.
BabyScreen+ newborn screening v0.851 GFAP Alison Yeung reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alexander disease, MIM#203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.851 GDAP1 Alison Yeung reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706, Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340, Charcot-Marie-Tooth disease, type 4A, MIM#214400; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.851 DMPK Zornitza Stark Marked gene: DMPK as ready
BabyScreen+ newborn screening v0.851 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.851 DMPK Zornitza Stark Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 to Myotonic dystrophy 1, MIM# 160900
BabyScreen+ newborn screening v0.850 DMPK Zornitza Stark Classified gene: DMPK as Red List (low evidence)
BabyScreen+ newborn screening v0.850 DMPK Zornitza Stark Gene: dmpk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.849 DMPK Zornitza Stark reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM# 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.849 DDB2 Zornitza Stark Tag for review tag was added to gene: DDB2.
BabyScreen+ newborn screening v0.849 DDB2 Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530099, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.849 DCX Zornitza Stark Marked gene: DCX as ready
BabyScreen+ newborn screening v0.849 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.849 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, MIM# 300067 to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
BabyScreen+ newborn screening v0.848 DCX Zornitza Stark Classified gene: DCX as Red List (low evidence)
BabyScreen+ newborn screening v0.848 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.847 DCX Zornitza Stark reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.847 DCLRE1C Zornitza Stark Marked gene: DCLRE1C as ready
BabyScreen+ newborn screening v0.847 DCLRE1C Zornitza Stark Gene: dclre1c has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.847 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, MIM#603554 to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554
BabyScreen+ newborn screening v0.846 DCLRE1C Zornitza Stark Tag treatable tag was added to gene: DCLRE1C.
BabyScreen+ newborn screening v0.846 DCLRE1C Zornitza Stark reviewed gene: DCLRE1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, Athabascan type MIM# 602450, Omenn syndrome, MIM# 603554; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.846 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
BabyScreen+ newborn screening v0.846 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.846 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome to Alport syndrome 1, X-linked, MIM# 301050
BabyScreen+ newborn screening v0.845 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.844 COL4A5 Zornitza Stark Tag treatable tag was added to gene: COL4A5.
BabyScreen+ newborn screening v0.844 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.844 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
BabyScreen+ newborn screening v0.844 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.844 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300
BabyScreen+ newborn screening v0.843 COL2A1 Zornitza Stark Tag for review tag was added to gene: COL2A1.
BabyScreen+ newborn screening v0.843 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.173 KIF5B Krithika Murali gene: KIF5B was added
gene: KIF5B was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 35342932
Phenotypes for gene: KIF5B were set to Skeletal dysplasia, MONDO:0018230; KIF5B-related; Kyphomelic dysplasia
Review for gene: KIF5B was set to GREEN
Added comment: Following review from fetal anomalies panel:

4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.8 Zornitza Stark List of related panels changed from to HP:0012675
Skeletal Dysplasia_Fetal v0.173 KIAA0753 Krithika Murali gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to PMID: 29138412
Phenotypes for gene: KIAA0753 were set to Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
Review for gene: KIAA0753 was set to GREEN
Added comment: Antenatal diagnosis of short limbs and narrow thorax has been reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 IHH Krithika Murali gene: IHH was added
gene: IHH was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IHH were set to PMID: 22406540
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia - MIM#607778; Brachydactyly, type A1 - MIM#112500
Review for gene: IHH was set to GREEN
Added comment: Antenatal diagnosis of shortened limbs and digital anomalies described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 HHAT Krithika Murali gene: HHAT was added
gene: HHAT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Antenatal diagnosis of the associated skeletal dysplasia features has been reported including micromelia and narrow bell-shaped thorax.
Sources: Literature
Polydactyly v0.262 DHCR7 Krithika Murali gene: DHCR7 was added
gene: DHCR7 was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome - MIM#270400
Review for gene: DHCR7 was set to GREEN
Added comment: Biallelic variants associated with SLO, polydactyly a known phenotypic feature.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.7 Bryony Thompson HPO terms changed from Iron accumulation in brain, HP:0012675 to HP:0012675
Neurodegeneration with brain iron accumulation v0.6 Bryony Thompson HPO terms changed from to Iron accumulation in brain, HP:0012675
Muscular dystrophy and myopathy_Paediatric v0.120 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Rasopathy v0.96 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Deafness_Isolated v1.38 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Combined Immunodeficiency v1.29 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital
Bone Marrow Failure v1.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Autism v0.186 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
BabyScreen+ newborn screening v0.843 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
BabyScreen+ newborn screening v0.843 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.843 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome to Ehlers-Danlos syndrome, classic type, 2 MIM#130010
BabyScreen+ newborn screening v0.842 COL5A2 Zornitza Stark Classified gene: COL5A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.842 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.841 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2 MIM#130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.841 COL7A1 Zornitza Stark Marked gene: COL7A1 as ready
BabyScreen+ newborn screening v0.841 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.841 COL7A1 Zornitza Stark Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica to EBD inversa, MIM# 226600; EBD, Bart type MIM# 132000 EBD, localisata variant; Epidermolysis bullosa dystrophica, MIM# 131750; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa pruriginosa 604129; Epidermolysis bullosa, pretibial, MIM# 131850; Transient bullous of the newborn 131705
BabyScreen+ newborn screening v0.840 COL7A1 Zornitza Stark Mode of inheritance for gene: COL7A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.839 COL7A1 Zornitza Stark Classified gene: COL7A1 as Red List (low evidence)
BabyScreen+ newborn screening v0.839 COL7A1 Zornitza Stark Gene: col7a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.838 COL7A1 Zornitza Stark reviewed gene: COL7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: EBD inversa, MIM# 226600, EBD, Bart type MIM# 132000 EBD, localisata variant, Epidermolysis bullosa dystrophica, MIM# 131750, Epidermolysis bullosa dystrophica, 226600, Epidermolysis bullosa pruriginosa 604129, Epidermolysis bullosa, pretibial, MIM# 131850, Transient bullous of the newborn 131705; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.838 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
BabyScreen+ newborn screening v0.838 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.838 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
BabyScreen+ newborn screening v0.837 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
BabyScreen+ newborn screening v0.836 TWIST1 Zornitza Stark Classified gene: TWIST1 as Red List (low evidence)
BabyScreen+ newborn screening v0.836 TWIST1 Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.835 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.835 TWNK Zornitza Stark Marked gene: TWNK as ready
BabyScreen+ newborn screening v0.835 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.835 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Spinocerebellar ataxia infantile-onset to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
BabyScreen+ newborn screening v0.834 TWNK Zornitza Stark Publications for gene: TWNK were set to
BabyScreen+ newborn screening v0.833 TWNK Zornitza Stark Classified gene: TWNK as Red List (low evidence)
BabyScreen+ newborn screening v0.833 TWNK Zornitza Stark Gene: twnk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.832 TYMP Zornitza Stark Marked gene: TYMP as ready
BabyScreen+ newborn screening v0.832 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.832 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome to Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041
BabyScreen+ newborn screening v0.831 TYMP Zornitza Stark Publications for gene: TYMP were set to
BabyScreen+ newborn screening v0.830 TYMP Zornitza Stark Classified gene: TYMP as Red List (low evidence)
BabyScreen+ newborn screening v0.830 TYMP Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.829 TYR Zornitza Stark Marked gene: TYR as ready
BabyScreen+ newborn screening v0.829 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.829 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous 1 to Oculocutaneous albinism type 1 MIM## 203100, # 606952
BabyScreen+ newborn screening v0.828 TYR Zornitza Stark Publications for gene: TYR were set to
BabyScreen+ newborn screening v0.827 TYR Zornitza Stark Classified gene: TYR as Red List (low evidence)
BabyScreen+ newborn screening v0.827 TYR Zornitza Stark Gene: tyr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.826 TYR Zornitza Stark Tag for review tag was added to gene: TYR.
BabyScreen+ newborn screening v0.826 TYR Zornitza Stark reviewed gene: TYR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.826 UBE2T Zornitza Stark Marked gene: UBE2T as ready
BabyScreen+ newborn screening v0.826 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.826 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
BabyScreen+ newborn screening v0.825 UBE2T Zornitza Stark Tag treatable tag was added to gene: UBE2T.
BabyScreen+ newborn screening v0.825 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.825 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready
BabyScreen+ newborn screening v0.825 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.825 COL5A1 Zornitza Stark Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, type I to Ehlers-Danlos syndrome, classic type, 1, MIM# 130000; Fibromuscular dysplasia, multifocal, MIM# 619329
BabyScreen+ newborn screening v0.824 COL5A1 Zornitza Stark Classified gene: COL5A1 as Red List (low evidence)
BabyScreen+ newborn screening v0.824 COL5A1 Zornitza Stark Gene: col5a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.823 COL5A1 Zornitza Stark reviewed gene: COL5A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 1, MIM# 130000, Fibromuscular dysplasia, multifocal, MIM# 619329; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.823 COL6A3 Zornitza Stark Marked gene: COL6A3 as ready
BabyScreen+ newborn screening v0.823 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.823 COL6A3 Zornitza Stark Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Dystonia 27 MIM#616411; Ullrich congenital muscular dystrophy 1 MIM#254090
BabyScreen+ newborn screening v0.822 COL6A3 Zornitza Stark Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.821 COL6A3 Zornitza Stark Classified gene: COL6A3 as Red List (low evidence)
BabyScreen+ newborn screening v0.821 COL6A3 Zornitza Stark Gene: col6a3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.820 COL6A3 Zornitza Stark reviewed gene: COL6A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Dystonia 27 MIM#616411, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.820 COL6A2 Zornitza Stark Marked gene: COL6A2 as ready
BabyScreen+ newborn screening v0.820 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.820 COL6A2 Zornitza Stark Phenotypes for gene: COL6A2 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090
BabyScreen+ newborn screening v0.819 COL6A2 Zornitza Stark Mode of inheritance for gene: COL6A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.818 COL6A2 Zornitza Stark Classified gene: COL6A2 as Red List (low evidence)
BabyScreen+ newborn screening v0.818 COL6A2 Zornitza Stark Gene: col6a2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.817 COL6A2 Zornitza Stark reviewed gene: COL6A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy 1 MIM#158810, Ullrich congenital muscular dystrophy 1 MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.817 COL6A1 Zornitza Stark Marked gene: COL6A1 as ready
BabyScreen+ newborn screening v0.817 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.817 COL6A1 Zornitza Stark Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090
BabyScreen+ newborn screening v0.816 COL6A1 Zornitza Stark Mode of inheritance for gene: COL6A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.815 COL6A1 Zornitza Stark Classified gene: COL6A1 as Red List (low evidence)
BabyScreen+ newborn screening v0.815 COL6A1 Zornitza Stark Gene: col6a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.814 COL6A1 Zornitza Stark reviewed gene: COL6A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy MIM#158810, Ullrich congenital muscular dystrophy MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.814 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
BabyScreen+ newborn screening v0.814 COL9A3 Zornitza Stark Gene: col9a3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.814 COL9A3 Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022
BabyScreen+ newborn screening v0.813 COL9A3 Zornitza Stark Tag for review tag was added to gene: COL9A3.
BabyScreen+ newborn screening v0.813 COL9A3 Zornitza Stark reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type VI, MIM# 620022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.813 TTPA Zornitza Stark Marked gene: TTPA as ready
BabyScreen+ newborn screening v0.813 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.813 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency to Ataxia with isolated vitamin E deficiency MIM#277460
BabyScreen+ newborn screening v0.812 TTPA Zornitza Stark Publications for gene: TTPA were set to
BabyScreen+ newborn screening v0.811 TTPA Zornitza Stark Tag treatable tag was added to gene: TTPA.
BabyScreen+ newborn screening v0.811 TTR Zornitza Stark Marked gene: TTR as ready
BabyScreen+ newborn screening v0.811 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.811 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Amyloidosis, hereditary, transthyretin-related to Amyloidosis, hereditary, transthyretin-related MIM#105210
BabyScreen+ newborn screening v0.810 TTR Zornitza Stark Publications for gene: TTR were set to
BabyScreen+ newborn screening v0.809 TTR Zornitza Stark Classified gene: TTR as Red List (low evidence)
BabyScreen+ newborn screening v0.809 TTR Zornitza Stark Gene: ttr has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.808 PDX1 Zornitza Stark Marked gene: PDX1 as ready
BabyScreen+ newborn screening v0.808 PDX1 Zornitza Stark Gene: pdx1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.808 PDX1 Zornitza Stark Phenotypes for gene: PDX1 were changed from Pancreatic agenesis, MIM# # 260370 to Pancreatic agenesis, MIM# # 260370
BabyScreen+ newborn screening v0.807 PDE4D Zornitza Stark Marked gene: PDE4D as ready
BabyScreen+ newborn screening v0.807 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.807 PDE4D Zornitza Stark Phenotypes for gene: PDE4D were changed from Acrodysostosis 2, with or without hormone resistance to Acrodysostosis 2, with or without hormone resistance, MIM#614613
BabyScreen+ newborn screening v0.806 PDE4D Zornitza Stark Classified gene: PDE4D as Red List (low evidence)
BabyScreen+ newborn screening v0.806 PDE4D Zornitza Stark Gene: pde4d has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.805 PCNT Zornitza Stark Marked gene: PCNT as ready
BabyScreen+ newborn screening v0.805 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.805 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism type 2 to Microcephalic osteodysplastic primordial dwarfism, type II, 210720
BabyScreen+ newborn screening v0.804 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
BabyScreen+ newborn screening v0.804 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.803 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
BabyScreen+ newborn screening v0.803 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.803 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome to Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533
BabyScreen+ newborn screening v0.802 TTPA Lilian Downie reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301419, PMID: 25614784, PMID: 20464573, PMID: 16491382; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.802 TTR Lilian Downie reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301373, PMID: 3032328, PMID: 29972753, PMID: 29972757; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.802 PDX1 David Amor reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 1, (Permanent Neonatal Diabetes Mellitus) 260370; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.802 PDE4D David Amor reviewed gene: PDE4D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.802 PCNT David Amor reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, 210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.802 PCDH15 David Amor reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.802 CRTAP Zornitza Stark Marked gene: CRTAP as ready
BabyScreen+ newborn screening v0.802 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.802 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from Osteogenesis imperfecta, type VII to Osteogenesis imperfecta, type VII, MIM# MIM#610682
BabyScreen+ newborn screening v0.801 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM# MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.76 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Fetal anomalies v1.75 FRA10AC1 Zornitza Stark reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.47 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Growth failure v1.46 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Intellectual disability syndromic and non-syndromic v0.5018 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Intellectual disability syndromic and non-syndromic v0.5017 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.487 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.486 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Microcephaly v1.163 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Microcephaly v1.162 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Mendeliome v1.459 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Mendeliome v1.458 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
BabyScreen+ newborn screening v0.801 TWIST1 Lilian Downie reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.801 TWNK Lilian Downie reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16135556,19304794,17921179, 27551684, 12872260, 31823625; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 MIM# 271245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.458 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Mendeliome v1.457 ITPR3 Zornitza Stark Publications for gene: ITPR3 were set to 32949214
Mendeliome v1.456 ITPR3 Zornitza Stark Classified gene: ITPR3 as Green List (high evidence)
Mendeliome v1.456 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Mendeliome v1.455 ITPR3 Zornitza Stark edited their review of gene: ITPR3: Added comment: Additional family with 3 individuals in 2 generations reported in PMID 24627108.; Changed rating: GREEN; Changed publications: 32949214, 24627108; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Hereditary Neuropathy_CMT - isolated v1.24 ITPR3 Zornitza Stark Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Hereditary Neuropathy_CMT - isolated v1.23 ITPR3 Zornitza Stark Publications for gene: ITPR3 were set to 32949214
Hereditary Neuropathy_CMT - isolated v1.22 ITPR3 Zornitza Stark Classified gene: ITPR3 as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.22 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.21 ITPR3 Zornitza Stark edited their review of gene: ITPR3: Added comment: Additional family with 3 individuals in 2 generations reported in PMID 24627108.; Changed rating: GREEN; Changed publications: 32949214, 24627108; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
Mendeliome v1.455 THAP1 Zornitza Stark Publications for gene: THAP1 were set to 21793105; 22377579
Mendeliome v1.454 THAP1 Zornitza Stark Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.173 GSC Krithika Murali gene: GSC was added
gene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSC were set to PMID: 24290375
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471
Review for gene: GSC was set to GREEN
Added comment: Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPX4 Krithika Murali gene: GPX4 was added
gene: GPX4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to PMID: 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220
Review for gene: GPX4 was set to GREEN
Added comment: small thorax, rhizomelic shortening, perinatal lethality described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPC6 Krithika Murali gene: GPC6 was added
gene: GPC6 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 - MIM#258315
Review for gene: GPC6 was set to GREEN
Added comment: Severe congenital micromelia
Sources: Literature
BabyScreen+ newborn screening v0.801 TYMP Lilian Downie reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301358, PMID: 33825174, PMID: 32980811, PMID: 26264513, PMID: 19371766; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.801 TYR Lilian Downie reviewed gene: TYR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 17980020, PMID: 33599182; Phenotypes: Oculocutaneous albinism type 1 MIM## 203100, # 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Marked gene: WDR5 as ready
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.801 UBE2T Lilian Downie reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32646888, PMID: 26119737, PMID: 26046368, PMID: 26085575; Phenotypes: Fanconi anemia, complementation group T MIM#616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Classified gene: WDR5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5017 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5016 WDR5 Bryony Thompson gene: WDR5 was added
gene: WDR5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related
Mode of pathogenicity for gene: WDR5 was set to Other
Review for gene: WDR5 was set to GREEN
Added comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. 9/11 probands have ID. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established.
Sources: Literature
Mendeliome v1.453 WDR5 Bryony Thompson Marked gene: WDR5 as ready
Mendeliome v1.453 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Mendeliome v1.453 WDR5 Bryony Thompson Classified gene: WDR5 as Green List (high evidence)
Mendeliome v1.453 WDR5 Bryony Thompson Gene: wdr5 has been classified as Green List (High Evidence).
Mendeliome v1.452 WDR5 Bryony Thompson gene: WDR5 was added
gene: WDR5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100157
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder MONDO:0700092, WDR5-related
Mode of pathogenicity for gene: WDR5 was set to Other
Review for gene: WDR5 was set to GREEN
Added comment: Six different missense variants were identified (de novo) in 11 affected individuals with neurodevelopmental disorders, with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. In vivo and in vitro functional suggest that loss-of-function is not the mechanism of disease. The mechanism of disease is yet to be established.
Sources: Literature
Mitochondrial disease v0.843 TOMM7 Bryony Thompson Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Mendeliome v1.451 TOMM7 Bryony Thompson edited their review of gene: TOMM7: Changed publications: 36299998
Hereditary Spastic Paraplegia - paediatric v1.51 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106
Hereditary Spastic Paraplegia - paediatric v1.50 KPNA3 Zornitza Stark reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.451 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from Hereditary Spastic Paraplegia, infantile onset to Spastic paraplegia-88 (SPG88), MIM#620106
Mendeliome v1.450 KPNA3 Zornitza Stark reviewed gene: KPNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia-88 (SPG88), MIM#620106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5015 JARID2 Zornitza Stark Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Intellectual disability syndromic and non-syndromic v0.5014 JARID2 Zornitza Stark edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Mendeliome v1.450 JARID2 Zornitza Stark Phenotypes for gene: JARID2 were changed from Intellectual disability to Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Mendeliome v1.449 JARID2 Zornitza Stark edited their review of gene: JARID2: Changed phenotypes: Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098
Microcephaly v1.162 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Microcephaly v1.162 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Microcephaly v1.162 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Microcephaly v1.162 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.449 PI4K2A Zornitza Stark Phenotypes for gene: PI4K2A were changed from Cutis laxa, intellectual disability, movement disorder to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Cutis laxa, intellectual disability, movement disorder
Mendeliome v1.448 PI4K2A Zornitza Stark Publications for gene: PI4K2A were set to 32418222
Hypertrophic cardiomyopathy_HCM v0.168 DNAJB4 Zornitza Stark Marked gene: DNAJB4 as ready
Hypertrophic cardiomyopathy_HCM v0.168 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy_HCM v0.168 DNAJB4 Zornitza Stark Classified gene: DNAJB4 as Red List (low evidence)
Hypertrophic cardiomyopathy_HCM v0.168 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Red List (Low Evidence).
Mendeliome v1.447 DNAJB4 Zornitza Stark Marked gene: DNAJB4 as ready
Mendeliome v1.447 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Green List (High Evidence).
Mendeliome v1.447 DNAJB4 Zornitza Stark Classified gene: DNAJB4 as Green List (high evidence)
Mendeliome v1.447 DNAJB4 Zornitza Stark Gene: dnajb4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.801 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
BabyScreen+ newborn screening v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.801 CSF2RA Zornitza Stark Classified gene: CSF2RA as Red List (low evidence)
BabyScreen+ newborn screening v0.801 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.800 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.800 CSF3R Zornitza Stark Marked gene: CSF3R as ready
BabyScreen+ newborn screening v0.800 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.800 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014
BabyScreen+ newborn screening v0.799 CSF3R Zornitza Stark Mode of inheritance for gene: CSF3R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.798 CSF3R Zornitza Stark Tag treatable tag was added to gene: CSF3R.
BabyScreen+ newborn screening v0.798 CSF3R Zornitza Stark reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.798 UBR1 Zornitza Stark Marked gene: UBR1 as ready
BabyScreen+ newborn screening v0.798 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.798 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome to Johanson-Blizzard syndrome MIM#243800
BabyScreen+ newborn screening v0.797 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
BabyScreen+ newborn screening v0.796 UBR1 Zornitza Stark Classified gene: UBR1 as Red List (low evidence)
BabyScreen+ newborn screening v0.796 UBR1 Zornitza Stark Gene: ubr1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.795 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
BabyScreen+ newborn screening v0.795 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.795 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome to Crigler-Najjar syndrome, type I, MIM# 218800
BabyScreen+ newborn screening v0.794 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
BabyScreen+ newborn screening v0.793 UGT1A1 Zornitza Stark Tag treatable tag was added to gene: UGT1A1.
Mendeliome v1.446 DNAJB4 Karina Sandoval gene: DNAJB4 was added
gene: DNAJB4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to PMID: 36264506
Phenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related
Review for gene: DNAJB4 was set to GREEN
Added comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure. One had HCM.

Functional studies including mouse model.
Sources: Literature
Hypertrophic cardiomyopathy_HCM v0.167 DNAJB4 Karina Sandoval gene: DNAJB4 was added
gene: DNAJB4 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to PMID: 36264506
Phenotypes for gene: DNAJB4 were set to Myopathy, MONDO:0005336, DNAJB4-related
Review for gene: DNAJB4 was set to RED
Added comment: 4 individuals from 3 unrelated families with bi-allelic LoF/missense variants in this gene, and either childhood/adult onset of muscle weakness and respiratory failure.

Only one had HCM.

Functional studies including mouse model.
Sources: Literature
Mendeliome v1.446 ATP11A Zornitza Stark Publications for gene: ATP11A were set to PMID: 34403372; 35278131
Mendeliome v1.445 ATP11A Zornitza Stark edited their review of gene: ATP11A: Changed phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851, Deafness, autosomal dominant 84 (MIM#619810)
Mendeliome v1.445 ATP11A Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Marked gene: PI4K2A as ready
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Mendeliome v1.445 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Mendeliome v1.445 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Deafness_Isolated v1.37 ATP11A Chern Lim reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36300302; Phenotypes: Deafness, autosomal dominant 84 (MIM#619810); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v1.444 PI4K2A Seb Lunke reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564627, 35880319, 19581584; Phenotypes: complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5014 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Incidentalome v0.219 WNK2 Alison Yeung Marked gene: WNK2 as ready
Incidentalome v0.219 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.219 WNK2 Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence)
Incidentalome v0.219 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.218 WNK2 Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence)
Incidentalome v0.218 WNK2 Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.444 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Mendeliome v1.444 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5013 PI4K2A Seb Lunke gene: PI4K2A was added
gene: PI4K2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 19581584
Phenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516
Review for gene: PI4K2A was set to GREEN
Added comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.

Functional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.

An earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.

in 2011, a Pi4k2a knock-out mouse model was described. "Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts."
Sources: Literature
Mendeliome v1.444 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Mendeliome v1.444 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Microcephaly v1.161 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Genetic Epilepsy v0.1800 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5012 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.486 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.486 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Mendeliome v1.443 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Mendeliome v1.443 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.443 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Mendeliome v1.443 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.442 THAP1 Michelle Torres commented on gene: THAP1: Monoallelic is well established with reduced penetrance.

Biallelic was seen in 3 families generally with severe and early onset dystonia:

PMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness).

PMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected.

PMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Mendeliome v1.442 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v1.12 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Marked gene: PI4K2A as ready
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Classified gene: PI4K2A as Green List (high evidence)
Genetic Epilepsy v0.1799 PI4K2A Seb Lunke Gene: pi4k2a has been classified as Green List (High Evidence).
Incidentalome v0.217 WNK2 Melanie Marty gene: WNK2 was added
gene: WNK2 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: WNK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK2 were set to PMID: 36270769
Phenotypes for gene: WNK2 were set to Serrated polyposis syndrome
Review for gene: WNK2 was set to AMBER
Added comment: Germline variants identified in 15 patients (14 missense, 1 fs) diagnosed with serrated polyposis syndrome. Limited segregation studies in 2 families (1 sibling in each family). Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway.
Sources: Literature
Mendeliome v1.442 THAP1 Michelle Torres reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36205328, 21425335, 20211909; Phenotypes: Dystonia 6, torsion, (MIM#60262); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v1.11 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Mendeliome v1.442 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Callosome v0.485 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Genetic Epilepsy v0.1798 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1798 PI4K2A Seb Lunke gene: PI4K2A was added
gene: PI4K2A was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 30564627; 35880319; 19581584
Phenotypes for gene: PI4K2A were set to complex neurodevelopmental disorder with motor features, PI4K2A-related, MONDO:0100516
Review for gene: PI4K2A was set to GREEN
Added comment: Two reportedly unrelated, consanguine families with the same hom stop mutation in PI4K2A, p.(Arg309Ter). Probands with seizures, developmental delay, hypotonia/dystonia, myoclonus and developmental delay. MRI showed extensive brain abnormalities including dysgenesis of the corpus callosum, ventriculomegaly, and white matter volume loss.

Functional studies showed cellular mislocalisation of the Arg309Ter truncated protein construct compared to WT and an missense control.

An earlier paper from 2018 described two additional probands with a different stop mutation, p.(Ser22Ter), and overlapping phenotypic presentation.

in 2011, a Pi4k2a knock-out mouse model was described. "Knock-out animals initially appeared normal but later develop a progressive neurological dis-ease characterized by tremor, limb weakness, urinary incontinence and premature mortality. Histological analysis revealed massive axonal degeneration in the spinal cord in the descending corticospinal tracts."
Sources: Literature
Mendeliome v1.442 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Mendeliome v1.442 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.442 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Mendeliome v1.442 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.441 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Dystonia - isolated/combined v1.27 THAP1 Alison Yeung Mode of inheritance for gene: THAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Genetic Epilepsy v0.1797 MYCBP2 Suliman Khan edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Marked gene: THAP1 as ready
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Gene: thap1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1797 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from intellectual disability, epilepsy, autistic features and callosum abnormalities to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Dystonia - isolated/combined v1.26 THAP1 Alison Yeung Publications for gene: THAP1 were set to 21793105; 22377579
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Genetic Epilepsy v0.1796 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1795 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Dystonia - isolated/combined v1.25 THAP1 Alison Yeung Mode of inheritance for gene: THAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1795 MYCBP2 Zornitza Stark reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1795 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to intellectual disability, epilepsy, autistic features and callosum abnormalities
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: Sources: Literature
Dystonia - isolated/combined v1.24 THAP1 Michelle Torres edited their review of gene: THAP1: Added comment: Monoallelic is well established with reduced penetrance.

Biallelic was seen in 3 families with severe and early onset dystonia:

PMID: 36205328: consanguineous family (gene panel), proband homozygous for p.Lys162Asn with early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction; both parents were confirmed carriers with milder features (47 yo father with tightness and difficulty with fine motor tasks, 41 yo mother with tightness).

PMID: 21425335: 3 siblings are homozygous for the p.Leu32His with early-onset generalized dystonia. Carriers were unaffected.

PMID: 20211909: a homozygous variant was identified in an individual with with writer's dystonia initially and then developing segmental dystonia, onset at 57 yo, parents could not be tested.; Changed publications: 36205328, 21425335, 20211909; Changed phenotypes: Dystonia 6, torsion, (MIM#60262); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.441 FICD Alison Yeung Marked gene: FICD as ready
Mendeliome v1.441 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Marked gene: KLHL20 as ready
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.441 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Mendeliome v1.441 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Classified gene: KLHL20 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5011 KLHL20 Zornitza Stark Gene: klhl20 has been classified as Green List (High Evidence).
Mendeliome v1.440 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Mendeliome v1.439 METTL23 Lucy Spencer reviewed gene: METTL23: Rating: AMBER; Mode of pathogenicity: None; Publications: 36099048; Phenotypes: glaucoma MONDO:0005041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5010 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.5009 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5009 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Suliman Khan edited their review of gene: MYCBP2: Changed phenotypes: intellectual disability, epilepsy, autistic features and callosum abnormalities,
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Zornitza Stark edited their review of gene: MYCBP2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Zornitza Stark reviewed gene: MYCBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36200388; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related, corpus callosum abnormalitie; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5008 KLHL20 Dean Phelan gene: KLHL20 was added
gene: KLHL20 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL20 were set to PMID: 36214804
Phenotypes for gene: KLHL20 were set to Neurodevelopmental disorder (MONDO:0700092), KLHL20-related
Review for gene: KLHL20 was set to GREEN
Added comment: PMID: 36214804
- 14 patients with de novo missense variants in KLHL20. The patients had mild to severe ID, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity and subtle dysmorphic facial features.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.50 FICD Alison Yeung Marked gene: FICD as ready
Hereditary Spastic Paraplegia - paediatric v1.50 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.50 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.50 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.49 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5008 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: Sources: Literature
Mendeliome v1.439 FOXI3 Zornitza Stark Marked gene: FOXI3 as ready
Mendeliome v1.439 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Marked gene: FICD as ready
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Classified gene: FICD as Green List (high evidence)
Hereditary Neuropathy_CMT - isolated v1.21 FICD Alison Yeung Gene: ficd has been classified as Green List (High Evidence).
Hereditary Neuropathy_CMT - isolated v1.20 FICD Alison Yeung gene: FICD was added
gene: FICD was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36136088
Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257
Review for gene: FICD was set to GREEN
Added comment: Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53

Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.

Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: Literature
Mendeliome v1.439 FOXI3 Zornitza Stark Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.438 FOXI3 Zornitza Stark Classified gene: FOXI3 as Green List (high evidence)
Mendeliome v1.438 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Marked gene: FOXI3 as ready
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.4 FOXI3 Zornitza Stark Phenotypes for gene: FOXI3 were changed from Craniofacial microsomia to Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Mandibulofacial Acrofacial dysostosis v1.3 FOXI3 Zornitza Stark Mode of inheritance for gene: FOXI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial Acrofacial dysostosis v1.2 FOXI3 Zornitza Stark Classified gene: FOXI3 as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v1.2 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Mendeliome v1.437 FOXI3 Paul De Fazio gene: FOXI3 was added
gene: FOXI3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Penetrance for gene: FOXI3 were set to Incomplete
Review for gene: FOXI3 was set to GREEN
gene: FOXI3 was marked as current diagnostic
Added comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants.

The missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.

Rated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected.
Sources: Literature
Dystonia - isolated/combined v1.24 THAP1 Michelle Torres commented on gene: THAP1
Mandibulofacial Acrofacial dysostosis v1.1 FOXI3 Paul De Fazio edited their review of gene: FOXI3: Changed phenotypes: Dysostosis with predominant craniofacial involvement (MONDO:0800085)
Mandibulofacial Acrofacial dysostosis v1.1 FOXI3 Paul De Fazio gene: FOXI3 was added
gene: FOXI3 was added to Mandibulofacial Acrofacial dysostosis. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to Craniofacial microsomia
Penetrance for gene: FOXI3 were set to Incomplete
Review for gene: FOXI3 was set to GREEN
gene: FOXI3 was marked as current diagnostic
Added comment: Ten affected individuals from 4 families reported with monoallelic variants, 2 with missense variants affecting the nuclear localisation sequence and 2 with frameshift variants.

The missense variants were associated with isolated microtia with aural atresia and affected subcellular localisation of the protein, while the frameshift variants were associated with microtia and mandubular hypoplasia, suggesting dosage sensitivity.

Rated green but CAUTION for incomplete penetrance. 3 of the 4 families had unaffected carriers. Family 1 in particular had 25 genotyped individuals, of which 15 were carriers, of which 5 were affected.
Sources: Literature
Skeletal dysplasia v0.228 CBFB Ain Roesley Marked gene: CBFB as ready
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Skeletal dysplasia v0.228 CBFB Ain Roesley Classified gene: CBFB as Green List (high evidence)
Skeletal dysplasia v0.228 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mendeliome v1.437 TOMM7 Zornitza Stark Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Skeletal dysplasia v0.227 CBFB Ain Roesley gene: CBFB was added
gene: CBFB was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related
Penetrance for gene: CBFB were set to Complete
Review for gene: CBFB was set to GREEN
gene: CBFB was marked as current diagnostic
Added comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion

In 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood
Sources: Literature
Mendeliome v1.436 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed publications: 36299998, 36282599
Mendeliome v1.436 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.; Changed publications: 36282599
Mitochondrial disease v0.842 TOMM7 Zornitza Stark changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.
Mendeliome v1.436 CBFB Ain Roesley Marked gene: CBFB as ready
Mendeliome v1.436 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mendeliome v1.436 CBFB Ain Roesley Classified gene: CBFB as Green List (high evidence)
Mendeliome v1.436 CBFB Ain Roesley Gene: cbfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed rating: AMBER
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599
Mendeliome v1.435 CBFB Ain Roesley gene: CBFB was added
gene: CBFB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to cleidocranial dysplasia (MONDO#0007340), CBFB-related
Penetrance for gene: CBFB were set to Complete
Review for gene: CBFB was set to GREEN
gene: CBFB was marked as current diagnostic
Added comment: 5 families with 8 individuals, including 2 de novos and 1 intragenic exon 4 deletion

In 1 family, the mother did not report skeletal concerns but had dental abnormalities during childhood
Sources: Literature
BabyScreen+ newborn screening v0.793 UBR1 Lilian Downie reviewed gene: UBR1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24599544; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Classified gene: IMPAD1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Marked gene: FZD2 as ready
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Classified gene: FZD2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.793 UGT1A1 Lilian Downie reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26595536, PMID: 29448836; Phenotypes: Crigler-Najjar syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Repeat Disorders v0.151 OPDM4 Bryony Thompson Publications for STR: OPDM4 were set to 35148830
Mendeliome v1.434 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480; Immunodeficiency 108 with autoinflammation, MIM# 260570
Mendeliome v1.433 CEBPE Zornitza Stark Publications for gene: CEBPE were set to 10359588; 11313242; 31256937; 29651288
Mendeliome v1.432 CEBPE Zornitza Stark edited their review of gene: CEBPE: Added comment: Additional family with auto inflammatory phenotype published in 31201888, extensive functional data.; Changed publications: 10359588, 11313242, 31256937, 29651288, 31201888
Mendeliome v1.432 CEBPE Zornitza Stark edited their review of gene: CEBPE: Changed phenotypes: Specific granule deficiency, MIM# 245480, Immunodeficiency 108 with autoinflammation, MIM# 260570
Autoinflammatory Disorders v1.3 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Autoinflammatory syndrome MONDO:0019751, CEBPE-related to Immunodeficiency 108 with autoinflammation , MIM# 260570
Autoinflammatory Disorders v1.2 CEBPE Zornitza Stark edited their review of gene: CEBPE: Changed phenotypes: Immunodeficiency 108 with autoinflammation, MIM# 260570
BabyScreen+ newborn screening v0.793 CSTB Zornitza Stark Marked gene: CSTB as ready
BabyScreen+ newborn screening v0.793 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.793 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
BabyScreen+ newborn screening v0.792 CSTB Zornitza Stark Classified gene: CSTB as Red List (low evidence)
BabyScreen+ newborn screening v0.792 CSTB Zornitza Stark Gene: cstb has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.791 CSTB Zornitza Stark reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.791 CTC1 Zornitza Stark Marked gene: CTC1 as ready
BabyScreen+ newborn screening v0.791 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.791 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Coats plus syndrome to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
BabyScreen+ newborn screening v0.790 CTC1 Zornitza Stark Classified gene: CTC1 as Red List (low evidence)
BabyScreen+ newborn screening v0.790 CTC1 Zornitza Stark Gene: ctc1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.789 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.789 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
BabyScreen+ newborn screening v0.789 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.789 CTPS1 Zornitza Stark Tag treatable tag was added to gene: CTPS1.
BabyScreen+ newborn screening v0.789 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 24, MIM# 615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.789 CTSK Zornitza Stark Marked gene: CTSK as ready
BabyScreen+ newborn screening v0.789 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.789 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from Pycnodysostosis to Pycnodysostosis - MIM#265800
BabyScreen+ newborn screening v0.788 CTSK Zornitza Stark Classified gene: CTSK as Red List (low evidence)
BabyScreen+ newborn screening v0.788 CTSK Zornitza Stark Gene: ctsk has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.787 CTSK Zornitza Stark reviewed gene: CTSK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis - MIM#265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.787 CYP27A1 John Christodoulou changed review comment from: treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884); to: Onset of disease can be in infancy childhood, with a case made for newborn screening/genetic testing because of effective treatments being available - PMID: 33630770

treatable with chenodeoxycholic acid and pravastatin; GeneReviews - www.ncbi.nlm.nih.gov/books/NBK1409/#ctx.Summary

Best effect if started early (PMID: 7964884)
BabyScreen+ newborn screening v0.787 PCBD1 John Christodoulou changed review comment from: is on the current VCGS newborn screening panel; to: is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.

Hyperphenylalaninaemia when present in the newborn is transient. There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence. There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects. See: PMID: 32456656

So, I think we can take this one off the list.
BabyScreen+ newborn screening v0.787 CUL7 Zornitza Stark Marked gene: CUL7 as ready
BabyScreen+ newborn screening v0.787 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.787 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3-M syndrome to 3-M syndrome 1, MIM# 273750
BabyScreen+ newborn screening v0.786 CUL7 Zornitza Stark Classified gene: CUL7 as Red List (low evidence)
BabyScreen+ newborn screening v0.786 CUL7 Zornitza Stark Gene: cul7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.785 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-M syndrome 1, MIM# 273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.432 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
BabyScreen+ newborn screening v0.785 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
BabyScreen+ newborn screening v0.785 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.785 CXCR4 Zornitza Stark Tag treatable tag was added to gene: CXCR4.
BabyScreen+ newborn screening v0.785 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.785 CYBA Zornitza Stark Marked gene: CYBA as ready
BabyScreen+ newborn screening v0.785 CYBA Zornitza Stark Gene: cyba has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.785 CYBA Zornitza Stark Tag treatable tag was added to gene: CYBA.
BabyScreen+ newborn screening v0.785 CYBA Zornitza Stark reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.785 CYBB Zornitza Stark Marked gene: CYBB as ready
BabyScreen+ newborn screening v0.785 CYBB Zornitza Stark Gene: cybb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.785 CYBB Zornitza Stark Tag treatable tag was added to gene: CYBB.
BabyScreen+ newborn screening v0.785 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
BabyScreen+ newborn screening v0.785 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
BabyScreen+ newborn screening v0.785 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.785 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
BabyScreen+ newborn screening v0.784 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
BabyScreen+ newborn screening v0.784 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.783 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.783 MMAB Zornitza Stark Marked gene: MMAB as ready
BabyScreen+ newborn screening v0.783 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.783 IVD Zornitza Stark Marked gene: IVD as ready
BabyScreen+ newborn screening v0.783 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.783 GBA Zornitza Stark Marked gene: GBA as ready
BabyScreen+ newborn screening v0.783 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.783 GBA Zornitza Stark Phenotypes for gene: GBA were changed from Gaucher disease 1 to Gaucher disease type 1, MIM#230800
BabyScreen+ newborn screening v0.782 GBA Zornitza Stark Tag treatable tag was added to gene: GBA.
BabyScreen+ newborn screening v0.782 G6PC3 Zornitza Stark Tag treatable tag was added to gene: G6PC3.
BabyScreen+ newborn screening v0.782 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
BabyScreen+ newborn screening v0.782 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.782 CREBBP Zornitza Stark Marked gene: CREBBP as ready
BabyScreen+ newborn screening v0.782 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.782 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
BabyScreen+ newborn screening v0.781 CREBBP Zornitza Stark Classified gene: CREBBP as Red List (low evidence)
BabyScreen+ newborn screening v0.781 CREBBP Zornitza Stark Gene: crebbp has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.780 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.780 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
BabyScreen+ newborn screening v0.780 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.780 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from Osteogenesis imperfecta, type II to Osteogenesis imperfecta, type II , MIM#166210
BabyScreen+ newborn screening v0.779 COL1A2 Zornitza Stark reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type II , MIM#166210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.779 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
BabyScreen+ newborn screening v0.779 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.779 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from Osteogenesis imperfecta, type I to Osteogenesis imperfecta, type I, MIM#166200
BabyScreen+ newborn screening v0.778 COL1A1 Zornitza Stark Tag treatable tag was added to gene: COL1A1.
BabyScreen+ newborn screening v0.778 COL1A1 Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I MIM#166200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.778 COL17A1 Zornitza Stark Marked gene: COL17A1 as ready
BabyScreen+ newborn screening v0.778 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.778 COL17A1 Zornitza Stark Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type to Epidermolysis bullosa, junctional 4, intermediate MIM#619787
BabyScreen+ newborn screening v0.777 COL17A1 Zornitza Stark Classified gene: COL17A1 as Red List (low evidence)
BabyScreen+ newborn screening v0.777 COL17A1 Zornitza Stark Gene: col17a1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.776 COL17A1 Zornitza Stark reviewed gene: COL17A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate MIM#619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.776 PHYH Zornitza Stark Marked gene: PHYH as ready
BabyScreen+ newborn screening v0.776 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.776 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM# 266500
BabyScreen+ newborn screening v0.775 PHYH Zornitza Stark Classified gene: PHYH as Red List (low evidence)
BabyScreen+ newborn screening v0.775 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.774 PHYH Zornitza Stark Tag treatable tag was added to gene: PHYH.
BabyScreen+ newborn screening v0.774 PHKG2 Zornitza Stark Marked gene: PHKG2 as ready
BabyScreen+ newborn screening v0.774 PHKG2 Zornitza Stark Gene: phkg2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.774 PHKG2 Zornitza Stark Phenotypes for gene: PHKG2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease IXc, MIM# 613027
BabyScreen+ newborn screening v0.773 PHKG2 Zornitza Stark Tag treatable tag was added to gene: PHKG2.
BabyScreen+ newborn screening v0.773 PHKB Zornitza Stark Marked gene: PHKB as ready
BabyScreen+ newborn screening v0.773 PHKB Zornitza Stark Gene: phkb has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.773 PHKB Zornitza Stark Phenotypes for gene: PHKB were changed from Phosphorylase kinase deficiency to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868
BabyScreen+ newborn screening v0.772 PHKA2 Zornitza Stark Marked gene: PHKA2 as ready
BabyScreen+ newborn screening v0.772 PHKA2 Zornitza Stark Gene: phka2 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.772 PHKA2 Zornitza Stark Publications for gene: PHKA2 were set to
BabyScreen+ newborn screening v0.771 PHKA2 Zornitza Stark Phenotypes for gene: PHKA2 were changed from Phosphorylase kinase deficiency to Glycogen storage disease, type IXa1 and a2, MIM# 306000
BabyScreen+ newborn screening v0.770 PHGDH Zornitza Stark Marked gene: PHGDH as ready
BabyScreen+ newborn screening v0.770 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.770 PHGDH Zornitza Stark Tag treatable tag was added to gene: PHGDH.
BabyScreen+ newborn screening v0.770 PGM1 Zornitza Stark Marked gene: PGM1 as ready
BabyScreen+ newborn screening v0.770 PGM1 Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.142 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Rhabdomyolysis and Metabolic Myopathy v0.90 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Mendeliome v1.432 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Glycogen Storage Diseases v1.1 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
Congenital Disorders of Glycosylation v1.28 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
BabyScreen+ newborn screening v0.770 PGM1 Zornitza Stark Tag treatable tag was added to gene: PGM1.
BabyScreen+ newborn screening v0.770 PFKM Zornitza Stark Marked gene: PFKM as ready
BabyScreen+ newborn screening v0.770 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.770 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease 7 to Glycogen storage disease VII (MIM#232800)
BabyScreen+ newborn screening v0.769 PFKM Zornitza Stark Publications for gene: PFKM were set to
BabyScreen+ newborn screening v0.768 PFKM Zornitza Stark Classified gene: PFKM as Red List (low evidence)
BabyScreen+ newborn screening v0.768 PFKM Zornitza Stark Gene: pfkm has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.767 PEX7 Zornitza Stark Marked gene: PEX7 as ready
BabyScreen+ newborn screening v0.767 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.767 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata; Refsum disease to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
BabyScreen+ newborn screening v0.766 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
BabyScreen+ newborn screening v0.766 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.765 PEX6 Zornitza Stark Marked gene: PEX6 as ready
BabyScreen+ newborn screening v0.765 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.765 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
BabyScreen+ newborn screening v0.764 PEX6 Zornitza Stark Classified gene: PEX6 as Red List (low evidence)
BabyScreen+ newborn screening v0.764 PEX6 Zornitza Stark Gene: pex6 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.763 PEX5 Zornitza Stark Marked gene: PEX5 as ready
BabyScreen+ newborn screening v0.763 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.763 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
BabyScreen+ newborn screening v0.762 PEX5 Zornitza Stark Classified gene: PEX5 as Red List (low evidence)
BabyScreen+ newborn screening v0.762 PEX5 Zornitza Stark Gene: pex5 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.761 PEX3 Zornitza Stark Marked gene: PEX3 as ready
BabyScreen+ newborn screening v0.761 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.761 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from Zellweger syndrome to Peroxisome biogenesis disorder 10A (Zellweger) 614882
BabyScreen+ newborn screening v0.760 PEX3 Zornitza Stark Classified gene: PEX3 as Red List (low evidence)
BabyScreen+ newborn screening v0.760 PEX3 Zornitza Stark Gene: pex3 has been classified as Red List (Low Evidence).