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Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.571 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Regression. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature
Regression v0.570 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Regression v0.570 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Regression v0.570 SLC33A1 Zornitza Stark Classified gene: SLC33A1 as Green List (high evidence)
Regression v0.570 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Regression v0.569 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC33A1 were set to 31194315
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482
Review for gene: SLC33A1 was set to GREEN
Added comment: Multiple families reported. Progressive disorder characterised by cerebral and cerebellar atrophy.
Sources: Literature
Regression v0.568 NAXE Zornitza Stark Marked gene: NAXE as ready
Regression v0.568 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Regression v0.568 NAXE Zornitza Stark Classified gene: NAXE as Green List (high evidence)
Regression v0.568 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Regression v0.567 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Regression. Sources: Expert Review
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27122014; 27616477; 31758406
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Review for gene: NAXE was set to GREEN
Added comment: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Sources: Expert Review
Regression v0.566 BORCS8 Zornitza Stark Phenotypes for gene: BORCS8 were changed from Neurodevelopmental disorder (MONDO#0700092), BORCS8-related to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Regression v0.565 BORCS8 Zornitza Stark reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.565 POLR3K Zornitza Stark changed review comment from: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; to: https://doi.org/10.1155/2024/8807171: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.
Regression v0.565 POLR3K Zornitza Stark Publications for gene: POLR3K were set to 30584594; 33659930
Regression v0.564 POLR3K Zornitza Stark Classified gene: POLR3K as Green List (high evidence)
Regression v0.564 POLR3K Zornitza Stark Gene: polr3k has been classified as Green List (High Evidence).
Regression v0.563 POLR3K Zornitza Stark Classified gene: POLR3K as Green List (high evidence)
Regression v0.563 POLR3K Zornitza Stark Gene: polr3k has been classified as Green List (High Evidence).
Regression v0.562 POLR3K Zornitza Stark edited their review of gene: POLR3K: Added comment: PMID 30584594: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.; Changed rating: GREEN; Changed publications: 30584594, 33659930, 30584594
Regression v0.562 ZDHHC16 Ain Roesley Marked gene: ZDHHC16 as ready
Regression v0.562 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Regression v0.562 ZDHHC16 Ain Roesley Classified gene: ZDHHC16 as Amber List (moderate evidence)
Regression v0.562 ZDHHC16 Ain Roesley Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).
Regression v0.561 ZDHHC16 Ain Roesley gene: ZDHHC16 was added
gene: ZDHHC16 was added to Regression. Sources: Literature
Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZDHHC16 were set to 39313616
Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Review for gene: ZDHHC16 was set to AMBER
gene: ZDHHC16 was marked as current diagnostic
Added comment: 6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Regression v0.560 CIAO1 Zornitza Stark Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Regression v0.559 CIAO1 Zornitza Stark edited their review of gene: CIAO1: Changed phenotypes: Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Regression v0.559 PAX6 Chirag Patel Classified gene: PAX6 as Red List (low evidence)
Regression v0.559 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Regression v0.558 PAX6 Chirag Patel Classified gene: PAX6 as Red List (low evidence)
Regression v0.558 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Regression v0.558 PAX6 Chirag Patel Classified gene: PAX6 as Red List (low evidence)
Regression v0.558 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Regression v0.557 PAX6 Chirag Patel reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Regression v0.557 LNPK Zornitza Stark Marked gene: LNPK as ready
Regression v0.557 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Regression v0.557 LNPK Zornitza Stark Classified gene: LNPK as Green List (high evidence)
Regression v0.557 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Regression v0.556 FDXR Zornitza Stark Publications for gene: FDXR were set to 30250212
Regression v0.555 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Regression v0.555 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Regression v0.554 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly.; Changed rating: GREEN; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Regression v0.554 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Regression v0.554 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Regression v0.553 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Regression v0.553 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Regression v0.552 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Regression v0.552 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Red List (Low Evidence).
Regression v0.552 PSMF1 Zornitza Stark gene: PSMF1 was added
gene: PSMF1 was added to Regression. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Review for gene: PSMF1 was set to GREEN
Added comment: 22 individuals from 15 families reported with a range of neurological phenotypes ranging from early-onset Parkinson's disease; childhood conditions typified by ID and a range of movement disorders; through to perinatal lethal presentations with arthrogryposis multiplex.

Genotype-phenotype correlation: biallelic missense variants resulted in the milder phenotypes, while bi-allelic LoF variants in the more severe phenotypes. Supportive functional data.
Sources: Literature
Regression v0.551 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Regression v0.551 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Regression v0.551 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from to adrenoleukodystrophy (MONDO:0018544)
Regression v0.550 ABCD1 Zornitza Stark Publications for gene: ABCD1 were set to
Regression v0.549 ABCD1 Zornitza Stark Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.548 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15811009, 8651290, 7825602, 21700483; Phenotypes: adrenoleukodystrophy (MONDO:0018544); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.548 NAA60 Zornitza Stark Phenotypes for gene: NAA60 were changed from Basal ganglia calcification, MONDO:0008947, NAA60-related to Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786
Regression v0.547 NAA60 Zornitza Stark edited their review of gene: NAA60: Changed phenotypes: Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786
Regression v0.547 CIAO1 Zornitza Stark Marked gene: CIAO1 as ready
Regression v0.547 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Regression v0.547 CIAO1 Zornitza Stark Classified gene: CIAO1 as Green List (high evidence)
Regression v0.547 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Regression v0.546 CIAO1 Zornitza Stark gene: CIAO1 was added
gene: CIAO1 was added to Regression. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38411040; 38196629
Phenotypes for gene: CIAO1 were set to Neurodegenerative disease, MONDO:0005559, CIAO1-related
Review for gene: CIAO1 was set to GREEN
Added comment: PMID:38196629 (note pre-print) describes 4 unrelated patients with core features of progressive muscle weakness, respiratory insufficiency, joint hyperlaxity, ankle tightness, calf pseudohypertrophy, elevated CK, and larning disabilities/difficulties. 2 patients presented with increased iron deposition in the brain. Age of recognition of myopathic symptoms varied from early childhood to adolescence. Muscle biopsy showed variation in fiber size and an increase in internalized nuclei, as well as scattered degenerating/regenerating fibers and a mild to minimal increase in endomysial fibrosis. Electron microscopy revealed morphologically abnormal mitochondria.

PMID: 38411040 reports 2 unrelated patients. Patient 1 was born with microcephaly and borderline hypertonia, and died at 18 months of respiratory failure from bronchiolitis. Patient 2 presented with failure to thrive, a hyperkinetic movement disorder, and autism before deteriorating in late teens with muscle weakness, recurrent pneuomonia with respiratory insufficiency, and eventually death due to multi-organ failure with carnificating pneumonia, septic cardiomyopathy, and intracranial hemorrhages. Immune deficiency was ruled out.

All variants reported were homozygous or compound heterozygous missense variants, with the exception of one large in-frame deletion of exon 7. Cell line studies showed the variants resulted in reduced protein stability and downstream cellular defects which could be rescued by wild-type CIAO1.
Sources: Literature
Regression v0.545 MMS19 Zornitza Stark Marked gene: MMS19 as ready
Regression v0.545 MMS19 Zornitza Stark Gene: mms19 has been classified as Red List (Low Evidence).
Regression v0.545 MMS19 Zornitza Stark gene: MMS19 was added
gene: MMS19 was added to Regression. Sources: Literature
Mode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMS19 were set to 38411040
Phenotypes for gene: MMS19 were set to Neurodegenerative disease, MONDO:0005559, MMS19-related
Review for gene: MMS19 was set to RED
Added comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development.
Sources: Literature
Regression v0.544 HMBS Zornitza Stark Marked gene: HMBS as ready
Regression v0.544 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Regression v0.544 HMBS Zornitza Stark Phenotypes for gene: HMBS were changed from to Encephalopathy, porphyria-related MIM#620704; Leukoencephalopathy, porphyria-related, MIM#620711
Regression v0.543 HMBS Zornitza Stark Mode of inheritance for gene: HMBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.542 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, porphyria-related MIM#620704, Leukoencephalopathy, porphyria-related, MIM#620711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.542 FTH1 Zornitza Stark Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669
Regression v0.541 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.541 BORCS8 Zornitza Stark Marked gene: BORCS8 as ready
Regression v0.541 BORCS8 Zornitza Stark Gene: borcs8 has been classified as Green List (High Evidence).
Regression v0.541 BORCS8 Zornitza Stark Classified gene: BORCS8 as Green List (high evidence)
Regression v0.541 BORCS8 Zornitza Stark Gene: borcs8 has been classified as Green List (High Evidence).
Regression v0.540 BORCS8 Lauren Rogers changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature
Regression v0.540 BORCS8 Lauren Rogers gene: BORCS8 was added
gene: BORCS8 was added to Regression. Sources: Literature
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related
Review for gene: BORCS8 was set to GREEN
Added comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature
Regression v0.540 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Regression v0.540 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Regression v0.539 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME, DISPUTED for AD epilepsy.; Changed rating: RED
Regression v0.539 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Regression v0.539 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Regression v0.539 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
Regression v0.538 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Regression v0.537 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.536 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Amber List (moderate evidence)
Regression v0.536 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Regression v0.535 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.535 CAPRIN1 Zornitza Stark Marked gene: CAPRIN1 as ready
Regression v0.535 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Amber List (Moderate Evidence).
Regression v0.535 CAPRIN1 Zornitza Stark Classified gene: CAPRIN1 as Amber List (moderate evidence)
Regression v0.535 CAPRIN1 Zornitza Stark Gene: caprin1 has been classified as Amber List (Moderate Evidence).
Regression v0.534 CAPRIN1 Zornitza Stark edited their review of gene: CAPRIN1: Changed rating: AMBER
Regression v0.534 CAPRIN1 Zornitza Stark gene: CAPRIN1 was added
gene: CAPRIN1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 36136249
Phenotypes for gene: CAPRIN1 were set to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Review for gene: CAPRIN1 was set to GREEN
Added comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course with onset in childhood.

Another 12 individuals reported in previous publications with ID/SZ.
Sources: Expert Review
Regression v0.533 LNPK Lilian Downie gene: LNPK was added
gene: LNPK was added to Regression. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090
Review for gene: LNPK was set to GREEN
Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression
Epilepsy (myoclonic frequently)
Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.
Microcephaly, macrocephaly and normal head circumference described.
Sources: Literature
Regression v0.533 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Regression v0.532 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Regression v0.532 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Regression v0.532 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Regression v0.531 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Regression v0.530 NAA60 Zornitza Stark Marked gene: NAA60 as ready
Regression v0.530 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Regression v0.530 NAA60 Zornitza Stark Classified gene: NAA60 as Green List (high evidence)
Regression v0.530 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Regression v0.529 NAA60 Zornitza Stark gene: NAA60 was added
gene: NAA60 was added to Regression. Sources: Other
Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAA60 were set to Basal ganglia calcification, MONDO:0008947, NAA60-related
Review for gene: NAA60 was set to GREEN
Added comment: ESHG 2023:
10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift).
All with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations).

NAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain).
Sources: Other
Regression v0.528 ZIC1 Zornitza Stark Marked gene: ZIC1 as ready
Regression v0.528 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Regression v0.528 ZIC1 Chirag Patel Classified gene: ZIC1 as Red List (low evidence)
Regression v0.528 ZIC1 Chirag Patel Added comment: Comment on list classification: No evidence of regression
Regression v0.528 ZIC1 Chirag Patel Gene: zic1 has been classified as Red List (Low Evidence).
Regression v0.528 ZIC1 Chirag Patel Classified gene: ZIC1 as Red List (low evidence)
Regression v0.528 ZIC1 Chirag Patel Added comment: Comment on list classification: No evidence of regression
Regression v0.528 ZIC1 Chirag Patel Gene: zic1 has been classified as Red List (Low Evidence).
Regression v0.527 ZIC1 Chirag Patel reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Regression v0.527 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094
Regression v0.527 RNH1 Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related
Regression v0.526 RNH1 Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related
Regression v0.526 RNH1 Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417
Regression v0.526 RNH1 Ain Roesley Classified gene: RNH1 as Green List (high evidence)
Regression v0.526 RNH1 Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence).
Regression v0.525 RNH1 Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.525 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Regression v0.524 RNH1 Zornitza Stark reviewed gene: RNH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.524 RNH1 Seb Lunke Marked gene: RNH1 as ready
Regression v0.524 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Regression v0.524 RNH1 Seb Lunke Classified gene: RNH1 as Red List (low evidence)
Regression v0.524 RNH1 Seb Lunke Gene: rnh1 has been classified as Red List (Low Evidence).
Regression v0.523 RNH1 Krithika Murali edited their review of gene: RNH1: Changed rating: RED
Regression v0.523 RNH1 Krithika Murali gene: RNH1 was added
gene: RNH1 was added to Regression. Sources: Literature
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to PMID: 36935417
Phenotypes for gene: RNH1 were set to RNH1-related disorder
Review for gene: RNH1 was set to AMBER
Added comment: PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature
Regression v0.523 SLC31A1 Zornitza Stark Marked gene: SLC31A1 as ready
Regression v0.523 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Regression v0.523 SLC31A1 Zornitza Stark Classified gene: SLC31A1 as Amber List (moderate evidence)
Regression v0.523 SLC31A1 Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence).
Regression v0.522 SLC31A1 Zornitza Stark gene: SLC31A1 was added
gene: SLC31A1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to 35913762; 36562171
Phenotypes for gene: SLC31A1 were set to Neurodegeneration and seizures due to copper transport defect, MIM# 620306
Review for gene: SLC31A1 was set to AMBER
Added comment: PMID:36562171
Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.

PMID: 35913762
SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert Review
Regression v0.521 FTH1 Zornitza Stark Marked gene: FTH1 as ready
Regression v0.521 FTH1 Zornitza Stark Gene: fth1 has been classified as Amber List (Moderate Evidence).
Regression v0.521 FTH1 Zornitza Stark Classified gene: FTH1 as Amber List (moderate evidence)
Regression v0.521 FTH1 Zornitza Stark Gene: fth1 has been classified as Amber List (Moderate Evidence).
Regression v0.520 FTH1 Paul De Fazio gene: FTH1 was added
gene: FTH1 was added to Regression. Sources: Literature
Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTH1 were set to 36778397
Phenotypes for gene: FTH1 were set to Neuroferritinopathy (MONDO:0011638)
Mode of pathogenicity for gene: FTH1 was set to Other
Review for gene: FTH1 was set to AMBER
gene: FTH1 was marked as current diagnostic
Added comment: Note paper is pre-print hence Amber rating.

5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.

Patient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.

Note NMD-escape variants in gnomAD exist, upstream of the variants in patients.
Sources: Literature
Regression v0.520 NAE1 Zornitza Stark Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210
Regression v0.520 NAE1 Zornitza Stark Phenotypes for gene: NAE1 were changed from Neurodevelopmental disorder, MONDO:0700092, NAE1-related to Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210
Regression v0.519 NAE1 Zornitza Stark edited their review of gene: NAE1: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210
Regression v0.519 TCEAL1 Zornitza Stark Phenotypes for gene: TCEAL1 were changed from Neurodevelopmental disorder, MONDO:0700092, TCEAL1-related; hypotonia; abnormal gait; developmental delay; intellectual disability; autism; dysmorphic facial features to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094
Regression v0.518 TCEAL1 Zornitza Stark reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Regression v0.518 NAE1 Zornitza Stark Marked gene: NAE1 as ready
Regression v0.518 NAE1 Zornitza Stark Gene: nae1 has been classified as Green List (High Evidence).
Regression v0.518 NAE1 Zornitza Stark Classified gene: NAE1 as Green List (high evidence)
Regression v0.518 NAE1 Zornitza Stark Gene: nae1 has been classified as Green List (High Evidence).
Regression v0.517 NAE1 Zornitza Stark gene: NAE1 was added
gene: NAE1 was added to Regression. Sources: Literature
Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAE1 were set to 36608681
Phenotypes for gene: NAE1 were set to Neurodevelopmental disorder, MONDO:0700092, NAE1-related
Review for gene: NAE1 was set to GREEN
Added comment: Four individuals reported with bi-allelic variants and intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Sources: Literature
Regression v0.516 Zornitza Stark HPO terms changed from to Developmental regression, HP:0002376
List of related panels changed from to Developmental regression; HP:0002376
Regression v0.516 Zornitza Stark HPO terms changed from to Developmental regression, HP:0002376
List of related panels changed from to Developmental regression; HP:0002376
Regression v0.515 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Regression v0.515 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Green List (High Evidence).
Regression v0.515 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Regression v0.514 KCTD7 Zornitza Stark Mode of inheritance for gene: KCTD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.513 KCTD7 Zornitza Stark reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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).
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).
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).
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
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
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
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
Regression v0.509 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Regression v0.509 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Regression v0.509 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Regression v0.508 LETM1 Zornitza Stark gene: LETM1 was added
gene: LETM1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Review for gene: LETM1 was set to GREEN
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components

Around half had regression.
Sources: Expert Review
Regression v0.507 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Regression v0.507 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Regression v0.507 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Regression v0.507 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Regression v0.507 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Regression v0.507 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Regression v0.507 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Regression v0.507 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Regression v0.507 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800
Regression v0.506 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Regression v0.505 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.505 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Regression v0.505 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Regression v0.505 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Regression v0.505 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Regression v0.505 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Regression v0.505 MUT Zornitza Stark Tag treatable tag was added to gene: MUT.
Regression v0.505 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Regression v0.505 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Regression v0.505 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Regression v0.505 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Regression v0.505 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Regression v0.505 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Regression v0.505 MAN2B1 Zornitza Stark Tag treatable tag was added to gene: MAN2B1.
Regression v0.505 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Regression v0.505 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Regression v0.505 DBT Zornitza Stark Marked gene: DBT as ready
Regression v0.505 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Regression v0.505 DBT Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600)
Regression v0.504 DBT Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.503 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Regression v0.503 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.503 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Regression v0.503 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Regression v0.503 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from to Menkes disease MIM#309400
Regression v0.502 ATP7A Zornitza Stark Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.501 ATP7A Zornitza Stark Tag treatable tag was added to gene: ATP7A.
Regression v0.501 ATP7A Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease MIM#309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.501 ARSA Zornitza Stark Marked gene: ARSA as ready
Regression v0.501 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Regression v0.501 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100
Regression v0.500 ARSA Zornitza Stark Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.499 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.499 ARSA Zornitza Stark Tag treatable tag was added to gene: ARSA.
Tag clinical trial tag was added to gene: ARSA.
Regression v0.499 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Regression v0.498 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related
Regression v0.497 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905
Regression v0.496 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.495 UCHL1 Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.495 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Regression v0.495 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Regression v0.495 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284
Regression v0.494 CC2D2A Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.493 CC2D2A Zornitza Stark Classified gene: CC2D2A as Red List (low evidence)
Regression v0.493 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence).
Regression v0.492 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.492 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Regression v0.492 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Regression v0.492 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559
Regression v0.491 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Regression v0.490 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.489 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.489 ACOX1 Alison Yeung Marked gene: ACOX1 as ready
Regression v0.489 ACOX1 Alison Yeung Gene: acox1 has been classified as Green List (High Evidence).
Regression v0.489 ACOX1 Alison Yeung Classified gene: ACOX1 as Green List (high evidence)
Regression v0.489 ACOX1 Alison Yeung Gene: acox1 has been classified as Green List (High Evidence).
Regression v0.488 ACOX1 Alison Yeung gene: ACOX1 was added
gene: ACOX1 was added to Regression. Sources: Literature
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171; 35715200
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression.
Sources: Literature
Regression v0.487 CHMP3 Zornitza Stark Marked gene: CHMP3 as ready
Regression v0.487 CHMP3 Zornitza Stark Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Regression v0.487 CHMP3 Zornitza Stark Classified gene: CHMP3 as Amber List (moderate evidence)
Regression v0.487 CHMP3 Zornitza Stark Gene: chmp3 has been classified as Amber List (Moderate Evidence).
Regression v0.486 CHMP3 Chern Lim gene: CHMP3 was added
gene: CHMP3 was added to Regression. Sources: Literature
Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP3 were set to PMID: 35710109
Phenotypes for gene: CHMP3 were set to Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related
Review for gene: CHMP3 was set to AMBER
gene: CHMP3 was marked as current diagnostic
Added comment: PMID: 35710109
- Single large family with consanguinity, homozygous missense variant in 5 affected individuals with intellectual and progressive motor disabilities, seizures and spastic quadriplegia.
- Functional studies showed reduced CHMP3 protein in patient's fibroblasts, lenti-rescue study showed improved cellular phenotypes associated with impaired autophagy.
Sources: Literature
Regression v0.486 DRD2 Zornitza Stark Marked gene: DRD2 as ready
Regression v0.486 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Regression v0.486 DRD2 Zornitza Stark Phenotypes for gene: DRD2 were changed from to Combined dystonia, MONDO:0020065, DRD2-related
Regression v0.485 DRD2 Zornitza Stark Publications for gene: DRD2 were set to
Regression v0.484 DRD2 Zornitza Stark Mode of pathogenicity for gene: DRD2 was changed from to Other
Regression v0.483 DRD2 Zornitza Stark Mode of inheritance for gene: DRD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.482 DRD2 Zornitza Stark Classified gene: DRD2 as Red List (low evidence)
Regression v0.482 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Regression v0.481 DRD2 Zornitza Stark reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.481 SHQ1 Zornitza Stark Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Regression v0.480 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Changed phenotypes: Neurodevelopmental disorder with dystonia and seizures, MIM# 619922
Regression v0.480 IREB2 Zornitza Stark Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Regression v0.479 IREB2 Zornitza Stark edited their review of gene: IREB2: Added comment: Additional individual reported PMID 35602653; Changed publications: 30915432, 31243445, 11175792, 35602653
Regression v0.479 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Regression v0.479 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Regression v0.479 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Regression v0.478 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Regression v0.477 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.476 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.476 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Regression v0.476 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Regression v0.475 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.475 DRD2 Krithika Murali reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Regression v0.475 FBP2 Zornitza Stark Marked gene: FBP2 as ready
Regression v0.475 FBP2 Zornitza Stark Gene: fbp2 has been classified as Amber List (Moderate Evidence).
Regression v0.475 FBP2 Zornitza Stark Classified gene: FBP2 as Amber List (moderate evidence)
Regression v0.475 FBP2 Zornitza Stark Gene: fbp2 has been classified as Amber List (Moderate Evidence).
Regression v0.474 FBP2 Zornitza Stark gene: FBP2 was added
gene: FBP2 was added to Regression. Sources: Expert list
Mode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBP2 were set to 33977262
Phenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864
Review for gene: FBP2 was set to AMBER
Added comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro).
Sources: Expert list
Regression v0.473 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Regression v0.473 DTYMK Zornitza Stark Gene: dtymk has been classified as Green List (High Evidence).
Regression v0.473 DTYMK Zornitza Stark Classified gene: DTYMK as Green List (high evidence)
Regression v0.473 DTYMK Zornitza Stark Gene: dtymk has been classified as Green List (High Evidence).
Regression v0.472 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Regression. Sources: Expert Review
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTYMK were set to 34918187; 31271740
Phenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Review for gene: DTYMK was set to GREEN
Added comment: Progressive neurodegenerative disorder, 3 families reported.
Sources: Expert Review
Regression v0.471 STX1A Ain Roesley Marked gene: STX1A as ready
Regression v0.471 STX1A Ain Roesley Gene: stx1a has been classified as Amber List (Moderate Evidence).
Regression v0.471 STX1A Ain Roesley Classified gene: STX1A as Amber List (moderate evidence)
Regression v0.471 STX1A Ain Roesley Gene: stx1a has been classified as Amber List (Moderate Evidence).
Regression v0.470 STX1A Ain Roesley gene: STX1A was added
gene: STX1A was added to Regression. Sources: Literature
Mode of inheritance for gene: STX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STX1A were set to neurodevelopmental disorder MONDO#0700092, STX1A-related
Review for gene: STX1A was set to AMBER
gene: STX1A was marked as current diagnostic
Added comment: Preprint: https://www.medrxiv.org/content/10.1101/2022.04.20.22274073v1
8 individuals - 2x hom (related) and 6x hets (all de novo except 1x unknown)

7 unrelated since the 2 siblings share similar features:
7/7 ID, 7/7 motor delay, 4/7 epilepsy, 5/7 neonatal hypotonia 2/7 regression, 2/7 ASD excluding 1 with features but did not meet criteria
Sources: Literature
Regression v0.469 PRKCG Zornitza Stark Marked gene: PRKCG as ready
Regression v0.469 PRKCG Zornitza Stark Gene: prkcg has been classified as Red List (Low Evidence).
Regression v0.469 PRKCG Zornitza Stark Phenotypes for gene: PRKCG were changed from to Spinocerebellar ataxia 14, MIM# 605361
Regression v0.468 PRKCG Zornitza Stark Publications for gene: PRKCG were set to
Regression v0.467 PRKCG Zornitza Stark Mode of inheritance for gene: PRKCG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.466 PRKCG Zornitza Stark Classified gene: PRKCG as Red List (low evidence)
Regression v0.466 PRKCG Zornitza Stark Gene: prkcg has been classified as Red List (Low Evidence).
Regression v0.465 PRKCG Zornitza Stark reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: None; Publications: 12644968, 14676051, 14694043, 16193476, 33739604, 34292398; Phenotypes: Spinocerebellar ataxia 14, MIM# 605361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.465 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Regression v0.465 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Regression v0.465 SLC25A42 Zornitza Stark Classified gene: SLC25A42 as Green List (high evidence)
Regression v0.465 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Regression v0.464 SLC25A42 Zornitza Stark gene: SLC25A42 was added
gene: SLC25A42 was added to Regression. Sources: Expert Review
founder tags were added to gene: SLC25A42.
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337; 29327420; 29923093; 34258143
Phenotypes for gene: SLC25A42 were set to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Review for gene: SLC25A42 was set to GREEN
Added comment: Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia.

Sixteen individuals reported, 14 with the same founder variant, c.871A > G:p.Asn291Asp. Two additional variants reported in another two individuals.
Sources: Expert Review
Regression v0.463 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Regression v0.463 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Regression v0.462 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Regression v0.462 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.462 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Regression v0.462 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Regression v0.462 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Regression v0.462 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Regression v0.461 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Regression v0.460 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.459 ACER3 Zornitza Stark Marked gene: ACER3 as ready
Regression v0.459 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Regression v0.459 ACER3 Zornitza Stark Classified gene: ACER3 as Green List (high evidence)
Regression v0.459 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Regression v0.458 ACER3 Zornitza Stark gene: ACER3 was added
gene: ACER3 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 32816236; 26792856; 34281620
Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, MIM:617762
Review for gene: ACER3 was set to GREEN
Added comment: Five unrelated families reported, including clinical presentations with regression following a period of normal development.
Sources: Expert Review
Regression v0.457 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.457 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Regression v0.457 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Regression v0.457 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Regression v0.456 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Regression v0.455 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.454 TDP1 Zornitza Stark Classified gene: TDP1 as Red List (low evidence)
Regression v0.454 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Regression v0.453 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.453 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Regression v0.453 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Regression v0.453 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 - MIM#614937
Regression v0.452 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.452 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Regression v0.451 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.450 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Regression v0.450 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Regression v0.449 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: 22926851; Phenotypes: ?Myoclonus, familial, 1 - MIM#614937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.449 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Regression v0.449 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Regression v0.449 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Regression v0.448 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Regression v0.447 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.446 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.446 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Regression v0.446 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Regression v0.446 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Regression v0.445 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Regression v0.444 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.443 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Regression v0.443 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Regression v0.442 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Regression v0.442 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Regression v0.442 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Regression v0.441 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Regression v0.440 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.439 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 27290639, 28429146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.439 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Regression v0.439 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Regression v0.439 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Regression v0.438 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Regression v0.437 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.436 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Regression v0.435 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Regression v0.435 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Regression v0.435 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Regression v0.435 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Regression v0.434 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Regression v0.433 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.433 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, MIM# 108600
Regression v0.432 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Regression v0.431 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.430 VAMP1 Zornitza Stark Classified gene: VAMP1 as Red List (low evidence)
Regression v0.430 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.429 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.429 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Regression v0.429 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Regression v0.429 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Regression v0.428 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Regression v0.427 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.426 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Regression v0.426 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Regression v0.425 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Regression v0.425 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Regression v0.425 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Regression v0.424 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Regression v0.423 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.422 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Regression v0.422 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Regression v0.422 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Regression v0.421 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Regression v0.420 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.419 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with recurrent decompensation episodes.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic; to: 3 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with fulminant neonatal course / longer-term survivors having recurrent decompensation episodes.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Regression v0.419 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.419 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.419 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.419 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Regression v0.419 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Regression v0.419 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Regression v0.418 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Regression v0.417 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.416 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 16200211, 19384974, 20571988; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.416 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Regression v0.416 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).
Regression v0.416 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Regression v0.415 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Regression v0.414 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.413 NDUFAF1 Zornitza Stark Classified gene: NDUFAF1 as Amber List (moderate evidence)
Regression v0.413 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).
Regression v0.412 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17557076, 21931170, 16218961, 24963768, 34975718; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.412 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Regression v0.412 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Regression v0.412 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247
Regression v0.411 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Regression v0.410 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.409 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Amber List (moderate evidence)
Regression v0.409 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Regression v0.408 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26425749, 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.408 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.408 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.408 NDUFA9 Krithika Murali reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.408 IREB2 Zornitza Stark Marked gene: IREB2 as ready
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.408 IREB2 Zornitza Stark Classified gene: IREB2 as Green List (high evidence)
Regression v0.408 IREB2 Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence).
Regression v0.407 IREB2 Zornitza Stark gene: IREB2 was added
gene: IREB2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451
Review for gene: IREB2 was set to GREEN
Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice.
Sources: Expert Review
Regression v0.406 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Regression v0.406 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Regression v0.406 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Regression v0.405 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Regression v0.404 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.403 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.403 NDUFA10 Krithika Murali reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.403 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Regression v0.403 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Regression v0.403 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Regression v0.402 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Regression v0.401 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to 18306244; 31074871
Regression v0.401 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Regression v0.400 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.399 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Regression v0.399 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Regression v0.398 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.398 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Regression v0.398 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Regression v0.398 SOD1 Zornitza Stark Classified gene: SOD1 as Green List (high evidence)
Regression v0.398 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Regression v0.397 SOD1 Naomi Baker gene: SOD1 was added
gene: SOD1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOD1 were set to PMID: 31314961; 31332433; 34788402
Phenotypes for gene: SOD1 were set to Spastic tetraplegia and axial hypotonia, progressive, MIM#618598
Review for gene: SOD1 was set to GREEN
Added comment: Three individuals reported with biallelic LoF variants, with two apparently unrelated individuals having the same variant (c.335dupG).

Phenotypes include one individual with axial hypotonia and loss of gross and fine motor function beginning at 6 months of age, after which severe, progressive spastic tetraparesis developed and Babinski’s sign was present in both feet. MRI of brain detected mild frontoparietal atrophy.

The second individual had severe and marked by progressive loss of motor abilities from 9 months of age, tetraspasticity with predominance in the lower extremities, mild cerebellar atrophy, and hyperekplexia-like symptoms. Dysmorphic features such as low set, posteriorly rotated ears, and overlapping toes

The third individual is an infant with severe global developmental delay, axial hypotonia and limb spasticity. No dysmorphic facial features were noted, but she had a high arched palate, bilateral 5th finger clinodactyly, partial toe syndactyly of the second and third toes, and a single hyperpigmented macule tongue fasciculations, axial hypotonia with limb spasticity (more pronounced in the lower limbs), ankle clonus, and brisk patellar deep tendon reflexes.
Sources: Literature
Regression v0.397 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Regression v0.397 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Regression v0.397 PIK3R5 Zornitza Stark Phenotypes for gene: PIK3R5 were changed from to Ataxia-oculomotor apraxia 3, OMIM #615217
Regression v0.396 PIK3R5 Zornitza Stark Publications for gene: PIK3R5 were set to
Regression v0.395 PIK3R5 Zornitza Stark Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.394 PIK3R5 Zornitza Stark Classified gene: PIK3R5 as Red List (low evidence)
Regression v0.394 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Regression v0.393 PIK3R5 Zornitza Stark reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.393 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Regression v0.393 ZIC4 Zornitza Stark Added comment: Comment when marking as ready: Two individuals with deletions of ZIC4 and ZIC1 reported with Dandy-Walker malformation.
Regression v0.393 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Regression v0.393 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Regression v0.392 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Regression v0.392 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Regression v0.391 ZIC4 Michelle Torres reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Regression v0.391 COX15 Zornitza Stark Marked gene: COX15 as ready
Regression v0.391 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Regression v0.391 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Regression v0.390 COX15 Zornitza Stark Publications for gene: COX15 were set to
Regression v0.389 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.388 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.388 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Regression v0.388 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Regression v0.388 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Regression v0.387 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Regression v0.386 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.385 CEP290 Zornitza Stark Classified gene: CEP290 as Red List (low evidence)
Regression v0.385 CEP290 Zornitza Stark Gene: cep290 has been classified as Red List (Low Evidence).
Regression v0.384 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.384 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Regression v0.384 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Regression v0.384 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Regression v0.383 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Regression v0.382 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.381 CSF1R Zornitza Stark reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982609, 33749994, 34135456; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476, BANDDOS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.381 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Regression v0.381 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Regression v0.381 ETHE1 Zornitza Stark Classified gene: ETHE1 as Green List (high evidence)
Regression v0.381 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Regression v0.380 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETHE1 were set to 14732903; 28933811
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy , MIM#602473
Review for gene: ETHE1 was set to GREEN
Added comment: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.

Multiple families reported.
Sources: Expert Review
Regression v0.379 SHQ1 Zornitza Stark Marked gene: SHQ1 as ready
Regression v0.379 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Regression v0.379 SHQ1 Zornitza Stark Classified gene: SHQ1 as Amber List (moderate evidence)
Regression v0.379 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Regression v0.378 SHQ1 Zornitza Stark gene: SHQ1 was added
gene: SHQ1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHQ1 were set to 34542157; 29178645
Phenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration
Review for gene: SHQ1 was set to AMBER
Added comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration. Rated Amber as phenotypes likely represent a continuum but currently unclear what proportion have neurodegeneration.
Sources: Literature
Regression v0.377 CSTB Zornitza Stark Marked gene: CSTB as ready
Regression v0.377 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Regression v0.377 CSTB Zornitza Stark Classified gene: CSTB as Green List (high evidence)
Regression v0.377 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Regression v0.376 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Tag STR tag was added to gene: CSTB.
Regression v0.376 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Regression. Sources: Expert Review
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 9012407; 9054946
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Review for gene: CSTB was set to GREEN
Added comment: Myoclonic epilepsy of Unverricht and Lundborg is an autosomal recessive disorder characterized by onset of neurodegeneration between 6 and 13 years of age. It is typically progressive in adolescence, with dramatic worsening of myoclonus and ataxia in the first 6 years after onset. The disease stabilises in early adulthood, and myoclonus and ataxia may even improve, and there is minimal to no cognitive decline.

Note the most common causative allele is a dodecamer repeat in the promoter region. Missense variants have been reported, most commonly compound het with the repeat, except for p.Gly4Arg which has been reported in the homozygous state also.
Sources: Expert Review
Regression v0.375 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Regression v0.375 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Regression v0.375 SLC1A3 Zornitza Stark Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6, MIM# 612656
Regression v0.374 SLC1A3 Zornitza Stark Publications for gene: SLC1A3 were set to
Regression v0.373 SLC1A3 Zornitza Stark Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.372 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Red List (low evidence)
Regression v0.372 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Red List (Low Evidence).
Regression v0.371 SLC1A3 Zornitza Stark reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: None; Publications: 19139306, 16116111, 29208948, 27829685, 32741053; Phenotypes: Episodic ataxia, type 6, MIM# 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.371 GCLC Zornitza Stark Marked gene: GCLC as ready
Regression v0.371 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Regression v0.371 GCLC Zornitza Stark Phenotypes for gene: GCLC were changed from to Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450
Regression v0.370 GCLC Zornitza Stark Publications for gene: GCLC were set to
Regression v0.369 GCLC Zornitza Stark Mode of inheritance for gene: GCLC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.368 GCLC Zornitza Stark reviewed gene: GCLC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28571779, 10515893; Phenotypes: Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.368 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Regression v0.368 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Red List (Low Evidence).
Regression v0.368 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.367 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310
Regression v0.366 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Regression v0.366 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.365 ABCB7 Zornitza Stark Classified gene: ABCB7 as Red List (low evidence)
Regression v0.365 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Red List (Low Evidence).
Regression v0.364 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: 10196363, 11050011, 34354969; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.364 SCA36 Bryony Thompson Marked STR: SCA36 as ready
Regression v0.364 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Regression v0.364 SCA36 Bryony Thompson Classified STR: SCA36 as Green List (high evidence)
Regression v0.364 SCA36 Bryony Thompson Str: sca36 has been classified as Green List (High Evidence).
Regression v0.363 SCA36 Bryony Thompson STR: SCA36 was added
STR: SCA36 was added to Regression. Sources: Expert list
Mode of inheritance for STR: SCA36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA36 were set to 21683323
Phenotypes for STR: SCA36 were set to Spinocerebellar ataxia 36 MIM#614153
Review for STR: SCA36 was set to GREEN
STR: SCA36 was marked as clinically relevant
Added comment: NM_006392​.3:c.3+71GGCCTG[X]
Toxic RNA effect is suggested mechanism of disease
Normal: 3-14 repeats
Uncertain significance: 15-650 repeats
Pathogenic: ≥650 repeats
Sources: Expert list
Regression v0.362 NOP56 Bryony Thompson Classified gene: NOP56 as No list
Regression v0.362 NOP56 Bryony Thompson Added comment: Comment on list classification: STR expansion is the only reported cause of disease for this gene. An STR has been added to this panel under SCA36
Regression v0.362 NOP56 Bryony Thompson Gene: nop56 has been removed from the panel.
Regression v0.361 NIID Bryony Thompson Marked STR: NIID as ready
Regression v0.361 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.361 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Regression v0.361 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.360 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Regression. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[X]
Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.
Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.
Intermediate range: 41-60 identified in Parkinson's disease
Pathogenic repeat range: >=60-520
Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Regression v0.359 Bryony Thompson removed STR:NIID from the panel
Regression v0.358 RNU7-1 Zornitza Stark Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487
Regression v0.357 RNU7-1 Zornitza Stark edited their review of gene: RNU7-1: Changed phenotypes: Aicardi-Goutieres syndrome 9, MIM# 619487
Regression v0.357 LSM11 Zornitza Stark Phenotypes for gene: LSM11 were changed from type I interferonopathy Aicardi–Goutières syndrome to Aicardi-Goutieres syndrome 8, MIM# 619486
Regression v0.356 LSM11 Zornitza Stark reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 8, MIM# 619486; Mode of inheritance: None
Regression v0.356 VPS41 Zornitza Stark Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.355 VPS41 Zornitza Stark edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay
Regression v0.355 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Regression v0.355 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.355 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome
Regression v0.354 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.353 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Regression v0.353 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Regression v0.352 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.352 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Regression v0.352 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.352 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360
Regression v0.351 TMEM67 Zornitza Stark Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.350 TMEM67 Zornitza Stark Classified gene: TMEM67 as Red List (low evidence)
Regression v0.350 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Red List (Low Evidence).
Regression v0.349 TMEM67 Zornitza Stark reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.349 C5orf42 Zornitza Stark Marked gene: C5orf42 as ready
Regression v0.349 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.349 C5orf42 Zornitza Stark Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170
Regression v0.348 C5orf42 Zornitza Stark Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.347 C5orf42 Zornitza Stark Classified gene: C5orf42 as Red List (low evidence)
Regression v0.347 C5orf42 Zornitza Stark Gene: c5orf42 has been classified as Red List (Low Evidence).
Regression v0.346 C5orf42 Zornitza Stark reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.346 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Regression v0.346 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Regression v0.346 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Regression v0.346 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Regression v0.345 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Regression. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 10484774; 20301611; 29325606
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Sources: Expert list
Regression v0.344 TBP Bryony Thompson Classified gene: TBP as No list
Regression v0.344 TBP Bryony Thompson Added comment: Comment on list classification: Only STR reported as pathogenic in this gene. Added as an STR under SCA17
Regression v0.344 TBP Bryony Thompson Gene: tbp has been removed from the panel.
Regression v0.343 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Regression v0.343 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Regression v0.343 CTC1 Zornitza Stark Classified gene: CTC1 as Green List (high evidence)
Regression v0.343 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Regression v0.342 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Review for gene: CTC1 was set to GREEN
Added comment: Progressive cognitive decline.

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia. More than 30 unrelated patients reported.
Sources: Expert Review
Regression v0.341 NIID Bryony Thompson Marked STR: NIID as ready
Regression v0.341 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.341 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Regression v0.341 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Regression v0.340 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Regression. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)]
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Regression v0.339 NOTCH2NL Bryony Thompson Classified gene: NOTCH2NL as No list
Regression v0.339 NOTCH2NL Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of disease in this gene. It has been added as an STR under NIID.
Regression v0.339 NOTCH2NL Bryony Thompson Gene: notch2nl has been removed from the panel.
Regression v0.338 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Regression v0.338 SYT1 Zornitza Stark Gene: syt1 has been classified as Red List (Low Evidence).
Regression v0.338 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Regression v0.337 SYT1 Zornitza Stark Publications for gene: SYT1 were set to
Regression v0.336 SYT1 Zornitza Stark Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.335 SYT1 Zornitza Stark Classified gene: SYT1 as Red List (low evidence)
Regression v0.335 SYT1 Zornitza Stark Gene: syt1 has been classified as Red List (Low Evidence).
Regression v0.334 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: RED; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.334 UBTF Zornitza Stark Marked gene: UBTF as ready
Regression v0.334 UBTF Zornitza Stark Gene: ubtf has been classified as Green List (High Evidence).
Regression v0.334 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Regression v0.333 UBTF Zornitza Stark Publications for gene: UBTF were set to
Regression v0.332 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.331 UBTF Zornitza Stark reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.331 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Regression v0.331 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from # 606232. PHELAN-MCDERMID SYNDROME - PHMDS to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Regression v0.330 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Regression v0.330 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.330 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629
Regression v0.329 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Regression v0.328 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.327 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Regression v0.327 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Regression v0.326 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.326 VPS41 Zornitza Stark Marked gene: VPS41 as ready
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Regression v0.326 VPS41 Zornitza Stark Classified gene: VPS41 as Green List (high evidence)
Regression v0.326 VPS41 Zornitza Stark Gene: vps41 has been classified as Green List (High Evidence).
Regression v0.325 VPS41 Zornitza Stark gene: VPS41 was added
gene: VPS41 was added to Regression. Sources: Literature
Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS41 were set to 32808683; 33764426
Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability
Review for gene: VPS41 was set to GREEN
Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy.
Sources: Literature
Regression v0.324 POLR3K Zornitza Stark Tag founder tag was added to gene: POLR3K.
Regression v0.324 POLR3K Zornitza Stark Marked gene: POLR3K as ready
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.324 POLR3K Zornitza Stark Classified gene: POLR3K as Amber List (moderate evidence)
Regression v0.324 POLR3K Zornitza Stark Gene: polr3k has been classified as Amber List (Moderate Evidence).
Regression v0.323 POLR3K Zornitza Stark gene: POLR3K was added
gene: POLR3K was added to Regression. Sources: Expert Review
Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3K were set to 30584594; 33659930
Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310
Review for gene: POLR3K was set to AMBER
Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review
Regression v0.322 AAAS Zornitza Stark Marked gene: AAAS as ready
Regression v0.322 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Regression v0.322 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Regression v0.321 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.320 AAAS Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype of this multi-system syndromic condition.
Sources: Expert list; to: The association of adrenal and neurologic disease is similar to that in X-linked adrenoleukodystrophy, and neurological features are progressive.
Sources: Expert list
Regression v0.319 SGCE Zornitza Stark Marked gene: SGCE as ready
Regression v0.319 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.319 SGCE Zornitza Stark Phenotypes for gene: SGCE were changed from to Dystonia-11, myoclonic, MIM# 159900; MONDO:0008044
Regression v0.318 SGCE Zornitza Stark Mode of inheritance for gene: SGCE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Regression v0.317 SGCE Zornitza Stark Classified gene: SGCE as Red List (low evidence)
Regression v0.317 SGCE Zornitza Stark Gene: sgce has been classified as Red List (Low Evidence).
Regression v0.316 SGCE Zornitza Stark reviewed gene: SGCE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia-11, myoclonic, MIM# 159900, MONDO:0008044; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Regression v0.316 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Regression v0.316 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.316 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to Dystonia 16, MIM# 612067; MONDO:0012789
Regression v0.315 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.314 PRKRA Zornitza Stark Classified gene: PRKRA as Red List (low evidence)
Regression v0.314 PRKRA Zornitza Stark Gene: prkra has been classified as Red List (Low Evidence).
Regression v0.313 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.313 CIZ1 Zornitza Stark Marked gene: CIZ1 as ready
Regression v0.313 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.313 CIZ1 Zornitza Stark Phenotypes for gene: CIZ1 were changed from to Dystonia 23 MIM#614860
Regression v0.312 CIZ1 Zornitza Stark Mode of inheritance for gene: CIZ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.311 CIZ1 Zornitza Stark Classified gene: CIZ1 as Red List (low evidence)
Regression v0.311 CIZ1 Zornitza Stark Gene: ciz1 has been classified as Red List (Low Evidence).
Regression v0.310 CIZ1 Zornitza Stark reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 23 MIM#614860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.310 PNKD Zornitza Stark Marked gene: PNKD as ready
Regression v0.310 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Regression v0.310 PNKD Zornitza Stark Phenotypes for gene: PNKD were changed from to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Regression v0.309 PNKD Zornitza Stark Publications for gene: PNKD were set to
Regression v0.308 PNKD Zornitza Stark Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.307 PNKD Zornitza Stark Classified gene: PNKD as Red List (low evidence)
Regression v0.307 PNKD Zornitza Stark Gene: pnkd has been classified as Red List (Low Evidence).
Regression v0.306 PNKD Zornitza Stark reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.306 GNAL Zornitza Stark Marked gene: GNAL as ready
Regression v0.306 GNAL Zornitza Stark Gene: gnal has been classified as Red List (Low Evidence).
Regression v0.306 GNAL Zornitza Stark Phenotypes for gene: GNAL were changed from to Dystonia 25, MIM# 615073; MONDO:0014033
Regression v0.305 GNAL Zornitza Stark Publications for gene: GNAL were set to
Regression v0.304 GNAL Zornitza Stark Mode of inheritance for gene: GNAL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.303 GNAL Zornitza Stark Classified gene: GNAL as Red List (low evidence)
Regression v0.303 GNAL Zornitza Stark Gene: gnal has been classified as Red List (Low Evidence).
Regression v0.302 GNAL Zornitza Stark reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: None; Publications: 23222958, 33175450, 32180288; Phenotypes: Dystonia 25, MIM# 615073, MONDO:0014033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.302 THAP1 Zornitza Stark Marked gene: THAP1 as ready
Regression v0.302 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Regression v0.302 THAP1 Zornitza Stark Phenotypes for gene: THAP1 were changed from to Dystonia 6, torsion, 602629; MONDO:0011264
Regression v0.301 THAP1 Zornitza Stark Publications for gene: THAP1 were set to
Regression v0.300 THAP1 Zornitza Stark Mode of inheritance for gene: THAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.299 THAP1 Zornitza Stark Classified gene: THAP1 as Red List (low evidence)
Regression v0.299 THAP1 Zornitza Stark Gene: thap1 has been classified as Red List (Low Evidence).
Regression v0.298 THAP1 Zornitza Stark reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21793105, 22377579; Phenotypes: Dystonia 6, torsion, 602629, MONDO:0011264; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.298 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Regression v0.297 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Green List (high evidence)
Regression v0.297 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence).
Regression v0.296 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.; Changed rating: GREEN; Changed publications: 21617257, 33715266
Regression v0.296 TPP1 Zornitza Stark Marked gene: TPP1 as ready
Regression v0.296 TPP1 Zornitza Stark Gene: tpp1 has been classified as Green List (High Evidence).
Regression v0.296 TPP1 Zornitza Stark Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769
Regression v0.295 TPP1 Zornitza Stark Publications for gene: TPP1 were set to
Regression v0.294 TPP1 Zornitza Stark Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.293 TPP1 Zornitza Stark reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9295267, 18684116, 23418007, 26224725, 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, MONDO:0008769; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.293 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Regression v0.293 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Regression v0.293 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588
Regression v0.292 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Regression v0.291 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MFSD8 Zornitza Stark reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564970, 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, MIM# 610951, MONDO:0012588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.290 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Regression v0.290 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Regression v0.290 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Regression v0.289 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.288 MAN2B1 Zornitza Stark reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.288 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Regression v0.288 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Regression v0.288 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657
Regression v0.287 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Regression v0.286 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.285 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930, MONDO:0009657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.285 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Regression v0.285 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Regression v0.285 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from to Fucosidosis, MIM# 230000; MONDO:0009254
Regression v0.284 FUCA1 Zornitza Stark Publications for gene: FUCA1 were set to
Regression v0.283 FUCA1 Zornitza Stark Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.282 FUCA1 Zornitza Stark reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094192; Phenotypes: Fucosidosis, MIM# 230000, MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.282 ATCAY Zornitza Stark Marked gene: ATCAY as ready
Regression v0.282 ATCAY Zornitza Stark Gene: atcay has been classified as Red List (Low Evidence).
Regression v0.282 ATCAY Zornitza Stark Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, MIM# 601238; MONDO:0011025
Regression v0.281 ATCAY Zornitza Stark Publications for gene: ATCAY were set to
Regression v0.280 ATCAY Zornitza Stark Mode of inheritance for gene: ATCAY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.279 ATCAY Zornitza Stark Classified gene: ATCAY as Red List (low evidence)
Regression v0.279 ATCAY Zornitza Stark Gene: atcay has been classified as Red List (Low Evidence).
Regression v0.278 ATCAY Zornitza Stark reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: None; Publications: 29449188, 23226316, 26343454, 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238, MONDO:0011025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.278 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Regression v0.278 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Red List (Low Evidence).
Regression v0.278 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164
Regression v0.277 TMEM231 Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.276 TMEM231 Zornitza Stark Classified gene: TMEM231 as Red List (low evidence)
Regression v0.276 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Red List (Low Evidence).
Regression v0.275 TMEM231 Zornitza Stark reviewed gene: TMEM231: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.275 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Regression v0.275 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Regression v0.275 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; MONDO:0011963; Meckel syndrome 2, MIM# 603194; MONDO:0011296
Regression v0.274 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.273 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Regression v0.273 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Regression v0.272 TMEM216 Zornitza Stark reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 2, MIM# 608091, MONDO:0011963, Meckel syndrome 2, MIM# 603194, MONDO:0011296; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.272 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Regression v0.272 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Red List (Low Evidence).
Regression v0.272 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from to Joubert syndrome 16, MIM# 614465; MONDO:0013764
Regression v0.271 TMEM138 Zornitza Stark Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.270 TMEM138 Zornitza Stark Classified gene: TMEM138 as Red List (low evidence)
Regression v0.270 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Red List (Low Evidence).
Regression v0.269 TMEM138 Zornitza Stark reviewed gene: TMEM138: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 16, MIM# 614465, MONDO:0013764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.269 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Regression v0.269 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Red List (Low Evidence).
Regression v0.269 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Regression v0.268 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Regression v0.267 TCTN2 Zornitza Stark Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.266 TCTN2 Zornitza Stark Classified gene: TCTN2 as Red List (low evidence)
Regression v0.266 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Red List (Low Evidence).
Regression v0.265 TCTN2 Zornitza Stark reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.265 TCTN1 Zornitza Stark Marked gene: TCTN1 as ready
Regression v0.265 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Regression v0.265 TCTN1 Zornitza Stark Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Regression v0.264 TCTN1 Zornitza Stark Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.263 TCTN1 Zornitza Stark Classified gene: TCTN1 as Red List (low evidence)
Regression v0.263 TCTN1 Zornitza Stark Gene: tctn1 has been classified as Red List (Low Evidence).
Regression v0.262 TCTN1 Zornitza Stark reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.262 ANO3 Zornitza Stark Marked gene: ANO3 as ready
Regression v0.262 ANO3 Zornitza Stark Gene: ano3 has been classified as Red List (Low Evidence).
Regression v0.262 ANO3 Zornitza Stark Phenotypes for gene: ANO3 were changed from to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Regression v0.261 ANO3 Zornitza Stark Mode of inheritance for gene: ANO3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.260 ANO3 Zornitza Stark Classified gene: ANO3 as Red List (low evidence)
Regression v0.260 ANO3 Zornitza Stark Gene: ano3 has been classified as Red List (Low Evidence).
Regression v0.259 ANO3 Zornitza Stark edited their review of gene: ANO3: Changed rating: RED
Regression v0.259 ANO3 Zornitza Stark reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.259 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; regression
Regression v0.258 SATB1 Zornitza Stark changed review comment from: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; to: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.

Note Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.
Regression v0.258 SATB1 Zornitza Stark edited their review of gene: SATB1: Added comment: Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.; Changed phenotypes: Kohlschutter-Tonz syndrome-like, MIM# 619229
Regression v0.258 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression
Regression v0.257 SATB1 Zornitza Stark reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.257 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Regression v0.257 INPP5E Zornitza Stark Gene: inpp5e has been classified as Red List (Low Evidence).
Regression v0.257 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Regression v0.256 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Regression v0.255 INPP5E Zornitza Stark Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.254 INPP5E Zornitza Stark Classified gene: INPP5E as Red List (low evidence)
Regression v0.254 INPP5E Zornitza Stark Gene: inpp5e has been classified as Red List (Low Evidence).
Regression v0.253 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: RED; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.253 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Regression v0.253 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Red List (Low Evidence).
Regression v0.253 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Regression v0.252 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Regression v0.251 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.250 CSPP1 Zornitza Stark Classified gene: CSPP1 as Red List (low evidence)
Regression v0.250 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Red List (Low Evidence).
Regression v0.249 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: RED; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.249 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Regression v0.249 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Regression v0.249 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209
Regression v0.248 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Regression v0.247 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.246 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.246 AIMP1 Zornitza Stark Marked gene: AIMP1 as ready
Regression v0.246 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Regression v0.246 AIMP1 Zornitza Stark Classified gene: AIMP1 as Green List (high evidence)
Regression v0.246 AIMP1 Zornitza Stark Gene: aimp1 has been classified as Green List (High Evidence).
Regression v0.245 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922; 24958424; 33402283; 32531460; 30486714; 30477741
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, MIM# 260600
Review for gene: AIMP1 was set to GREEN
Added comment: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Neurodegeneration is a feature.
Sources: Expert Review
Regression v0.244 CST3 Zornitza Stark Marked gene: CST3 as ready
Regression v0.244 CST3 Zornitza Stark Gene: cst3 has been classified as Red List (Low Evidence).
Regression v0.244 CST3 Zornitza Stark Classified gene: CST3 as Red List (low evidence)
Regression v0.244 CST3 Zornitza Stark Gene: cst3 has been classified as Red List (Low Evidence).
Regression v0.243 CST3 Zornitza Stark reviewed gene: CST3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Regression v0.243 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Regression v0.243 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Regression v0.243 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Regression v0.242 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Regression v0.241 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.240 NHLRC1 Zornitza Stark reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.240 EEF2 Zornitza Stark changed review comment from: Single family reported.; to: Single family reported, adult onset disorder.
Regression v0.240 CHMP1A Zornitza Stark Marked gene: CHMP1A as ready
Regression v0.240 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Regression v0.240 CHMP1A Zornitza Stark Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961
Regression v0.239 CHMP1A Zornitza Stark Publications for gene: CHMP1A were set to
Regression v0.238 CHMP1A Zornitza Stark Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.237 CHMP1A Zornitza Stark Classified gene: CHMP1A as Red List (low evidence)
Regression v0.237 CHMP1A Zornitza Stark Gene: chmp1a has been classified as Red List (Low Evidence).
Regression v0.236 CHMP1A Zornitza Stark reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.236 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.236 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.236 SLC39A14 Zornitza Stark Classified gene: SLC39A14 as Green List (high evidence)
Regression v0.236 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Regression v0.235 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142; 29685658
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to GREEN
Added comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit. More than 5 unrelated families reported.
Sources: Expert Review
Regression v0.234 SATB1 Zornitza Stark Marked gene: SATB1 as ready
Regression v0.234 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.234 SATB1 Zornitza Stark Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression
Regression v0.233 SATB1 Zornitza Stark Classified gene: SATB1 as Green List (high evidence)
Regression v0.233 SATB1 Zornitza Stark Gene: satb1 has been classified as Green List (High Evidence).
Regression v0.232 SATB1 Elena Savva gene: SATB1 was added
gene: SATB1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to PMID: 33513338; 33057194
Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders
Mode of pathogenicity for gene: SATB1 was set to Other
Review for gene: SATB1 was set to GREEN
Added comment: PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease

Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: Literature
Regression v0.232 RNU7-1 Zornitza Stark reviewed gene: RNU7-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi–Goutières syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.232 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.232 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Regression v0.232 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Regression v0.231 LSM11 Zornitza Stark Marked gene: LSM11 as ready
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.231 LSM11 Zornitza Stark Classified gene: LSM11 as Red List (low evidence)
Regression v0.231 LSM11 Zornitza Stark Gene: lsm11 has been classified as Red List (Low Evidence).
Regression v0.230 LSM11 Ee Ming Wong gene: LSM11 was added
gene: LSM11 was added to Regression. Sources: Literature
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to PMID: 33230297
Phenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome
Review for gene: LSM11 was set to RED
gene: LSM11 was marked as current diagnostic
Added comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and
interferon signaling

(added as Red as per discussion with Seb)
Sources: Literature
Regression v0.230 RNU7-1 Paul De Fazio gene: RNU7-1 was added
gene: RNU7-1 was added to Regression. Sources: Literature
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297
Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like
gene: RNU7-1 was marked as current diagnostic
Added comment: Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Regression v0.230 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.230 HSD17B10 Zornitza Stark Classified gene: HSD17B10 as Green List (high evidence)
Regression v0.230 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Regression v0.229 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease, MIM# 300438
Review for gene: HSD17B10 was set to GREEN
Added comment: HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Multiple unrelated families reported.
Sources: Expert Review
Regression v0.228 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.228 BSCL2 Zornitza Stark Classified gene: BSCL2 as Green List (high evidence)
Regression v0.228 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Regression v0.227 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSCL2 were set to 23564749; 27452399
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy 615924
Review for gene: BSCL2 was set to GREEN
Added comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.

At least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect).
Sources: Expert Review
Regression v0.226 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Regression v0.226 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.226 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Regression v0.225 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Regression v0.224 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.223 PDSS1 Zornitza Stark Classified gene: PDSS1 as Red List (low evidence)
Regression v0.223 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Red List (Low Evidence).
Regression v0.222 PDSS1 Zornitza Stark reviewed gene: PDSS1: Rating: RED; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.222 ST3GAL5 Zornitza Stark Tag founder tag was added to gene: ST3GAL5.
Regression v0.222 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.222 ST3GAL5 Zornitza Stark Classified gene: ST3GAL5 as Green List (high evidence)
Regression v0.222 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Regression v0.221 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 23436467; 22990144; 15502825; 27232954; 30691927; 30688114; 30576498
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome 609056; GM3 synthase deficiency, MONDO:0018274; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation)
Review for gene: ST3GAL5 was set to GREEN
Added comment: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.
Sources: Expert Review
Regression v0.220 CLCN6 Zornitza Stark Marked gene: CLCN6 as ready
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.220 CLCN6 Zornitza Stark Classified gene: CLCN6 as Green List (high evidence)
Regression v0.220 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Green List (High Evidence).
Regression v0.219 CLCN6 Zornitza Stark gene: CLCN6 was added
gene: CLCN6 was added to Regression. Sources: Literature
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN6 were set to 33217309
Phenotypes for gene: CLCN6 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: CLCN6 was set to GREEN
Added comment: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans.
Sources: Literature
Regression v0.218 H3F3B Zornitza Stark Phenotypes for gene: H3F3B were changed from to Intellectual disability; regression; seizures
Regression v0.217 H3F3B Zornitza Stark Publications for gene: H3F3B were set to
Regression v0.216 H3F3B Zornitza Stark Mode of inheritance for gene: H3F3B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.215 H3F3B Zornitza Stark Classified gene: H3F3B as Green List (high evidence)
Regression v0.215 H3F3B Zornitza Stark Gene: h3f3b has been classified as Green List (High Evidence).
Regression v0.214 H3F3B Zornitza Stark edited their review of gene: H3F3B: Added comment: 13 unrelated individuals reported with missense variants in H3F3B. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.214 H3F3A Zornitza Stark Phenotypes for gene: H3F3A were changed from to Intellectual disability; regression; seizures
Regression v0.213 H3F3A Zornitza Stark Publications for gene: H3F3A were set to
Regression v0.212 H3F3A Zornitza Stark Mode of inheritance for gene: H3F3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.211 H3F3A Zornitza Stark Classified gene: H3F3A as Green List (high evidence)
Regression v0.211 H3F3A Zornitza Stark Gene: h3f3a has been classified as Green List (High Evidence).
Regression v0.210 H3F3A Zornitza Stark edited their review of gene: H3F3A: Added comment: 33 unrelated individuals reported with missense variants in H3F3A. Phenotype primarily comprised intellectual disability and minor congenital anomalies, regression in significant proportion. Seizures in 50%.; Changed rating: GREEN; Changed publications: 33268356; Changed phenotypes: Intellectual disability, regression, seizures; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.210 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Regression v0.210 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Regression v0.210 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Regression v0.209 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Regression v0.208 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.207 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Regression v0.207 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Regression v0.206 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.206 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Regression v0.206 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Regression v0.206 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Regression v0.206 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Regression v0.205 NHLRC2 Paul De Fazio gene: NHLRC2 was added
gene: NHLRC2 was added to Regression. Sources: Literature
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Review for gene: NHLRC2 was set to GREEN
gene: NHLRC2 was marked as current diagnostic
Added comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Tyr)

PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.

PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.
Sources: Literature
Regression v0.205 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Regression v0.205 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Regression v0.205 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280
Regression v0.204 SLC30A10 Zornitza Stark Publications for gene: SLC30A10 were set to
Regression v0.203 SLC30A10 Zornitza Stark Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.202 SLC30A10 Zornitza Stark reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341972, 22341971, 29193034; Phenotypes: Hypermanganesemia with dystonia 1, MIM# 613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.202 VAC14 Zornitza Stark Marked gene: VAC14 as ready
Regression v0.202 VAC14 Zornitza Stark Gene: vac14 has been classified as Green List (High Evidence).
Regression v0.202 VAC14 Zornitza Stark Phenotypes for gene: VAC14 were changed from to Striatonigral degeneration, childhood-onset, MIM#617054
Regression v0.201 VAC14 Zornitza Stark Publications for gene: VAC14 were set to
Regression v0.200 VAC14 Zornitza Stark Mode of inheritance for gene: VAC14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.199 VAC14 Zornitza Stark reviewed gene: VAC14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27292112, 31392254, 31591492, 31387860, 31876398; Phenotypes: Striatonigral degeneration, childhood-onset, MIM#617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.199 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome; Complex IV deficiency
Regression v0.199 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.198 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency
Regression v0.198 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Regression v0.198 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Regression v0.198 APOPT1 Zornitza Stark Classified gene: APOPT1 as Green List (high evidence)
Regression v0.198 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Regression v0.198 APOPT1 Zornitza Stark Classified gene: APOPT1 as Green List (high evidence)
Regression v0.198 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Regression v0.197 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOPT1 were set to 25175347
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Review for gene: APOPT1 was set to GREEN
Added comment: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.
Sources: Expert list
Regression v0.196 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Regression v0.196 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Regression v0.196 COX4I1 Zornitza Stark Classified gene: COX4I1 as Amber List (moderate evidence)
Regression v0.196 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Regression v0.195 COX4I1 Zornitza Stark gene: COX4I1 was added
gene: COX4I1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551; 22592081; 31290619
Phenotypes for gene: COX4I1 were set to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Review for gene: COX4I1 was set to AMBER
Added comment: Two unrelated families reported, regression was a feature in both.
Sources: Expert list
Regression v0.194 PET100 Zornitza Stark Marked gene: PET100 as ready
Regression v0.194 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Regression v0.194 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Regression v0.193 PET100 Zornitza Stark Publications for gene: PET100 were set to 24462369; 25293719; 31406627
Regression v0.193 PET100 Zornitza Stark Publications for gene: PET100 were set to
Regression v0.192 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.191 PET100 Zornitza Stark Classified gene: PET100 as Red List (low evidence)
Regression v0.191 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Regression v0.190 PET100 Zornitza Stark reviewed gene: PET100: Rating: RED; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.190 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053
Regression v0.189 COX14 Zornitza Stark edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053
Regression v0.189 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Regression v0.189 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Regression v0.189 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Regression v0.188 TACO1 Zornitza Stark Publications for gene: TACO1 were set to
Regression v0.187 TACO1 Zornitza Stark Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.186 TACO1 Zornitza Stark Classified gene: TACO1 as Amber List (moderate evidence)
Regression v0.186 TACO1 Zornitza Stark Gene: taco1 has been classified as Amber List (Moderate Evidence).
Regression v0.185 TACO1 Zornitza Stark reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19503089, 20727754, 25044680, 27319982; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.185 COX6B1 Zornitza Stark Marked gene: COX6B1 as ready
Regression v0.185 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Amber List (Moderate Evidence).
Regression v0.185 COX6B1 Zornitza Stark Phenotypes for gene: COX6B1 were changed from to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Regression v0.184 COX6B1 Zornitza Stark Publications for gene: COX6B1 were set to
Regression v0.183 COX6B1 Zornitza Stark Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.182 COX6B1 Zornitza Stark Classified gene: COX6B1 as Amber List (moderate evidence)
Regression v0.182 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Amber List (Moderate Evidence).
Regression v0.181 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.181 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Regression v0.181 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Regression v0.181 SHANK3 Zornitza Stark Classified gene: SHANK3 as Green List (high evidence)
Regression v0.181 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Regression v0.180 SHANK3 Konstantinos Varvagiannis gene: SHANK3 was added
gene: SHANK3 was added to Regression. Sources: Literature
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 32050889, 29719671
Phenotypes for gene: SHANK3 were set to # 606232. PHELAN-MCDERMID SYNDROME - PHMDS
Penetrance for gene: SHANK3 were set to Complete
Review for gene: SHANK3 was set to GREEN
Added comment: Regression has been reported in several individuals with Phelan-McDermid syndrome due to SHANK3 variants or deletions encompassing this gene.
Sources: Literature
Regression v0.180 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Regression v0.180 SCO1 Zornitza Stark Gene: sco1 has been classified as Red List (Low Evidence).
Regression v0.180 SCO1 Zornitza Stark Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Regression v0.179 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Regression v0.178 SCO1 Zornitza Stark Mode of inheritance for gene: SCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.177 SCO1 Zornitza Stark Classified gene: SCO1 as Red List (low evidence)
Regression v0.177 SCO1 Zornitza Stark Gene: sco1 has been classified as Red List (Low Evidence).
Regression v0.176 SCO1 Zornitza Stark reviewed gene: SCO1: Rating: RED; Mode of pathogenicity: None; Publications: 11013136, 19295170, 31352446, 23878101; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.176 COX10 Zornitza Stark Marked gene: COX10 as ready
Regression v0.176 COX10 Zornitza Stark Gene: cox10 has been classified as Green List (High Evidence).
Regression v0.176 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Regression v0.175 COX10 Zornitza Stark Publications for gene: COX10 were set to
Regression v0.174 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.173 COX10 Zornitza Stark reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.173 ALG14 Zornitza Stark Marked gene: ALG14 as ready
Regression v0.173 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Regression v0.173 ALG14 Zornitza Stark Classified gene: ALG14 as Green List (high evidence)
Regression v0.173 ALG14 Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence).
Regression v0.172 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 30221345; 23404334; 28733338
Phenotypes for gene: ALG14 were set to Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036
Review for gene: ALG14 was set to GREEN
Added comment: Three families reported in PMID 28733338 with a neurodegenerative phenotype in infancy.

Note there are 2 other families reported, one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype, no repression. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation. These may all represent a spectrum of severity for a CDG.
Sources: Expert Review
Regression v0.171 HPDL Zornitza Stark commented on gene: HPDL: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).

Frequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).

Acute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).

Demyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.
Regression v0.171 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Regression v0.170 HPDL Zornitza Stark reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Mode of inheritance: None
Regression v0.170 TREM2 Zornitza Stark Marked gene: TREM2 as ready
Regression v0.170 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Regression v0.170 TREM2 Zornitza Stark Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Regression v0.169 TREM2 Zornitza Stark Publications for gene: TREM2 were set to
Regression v0.168 TREM2 Zornitza Stark Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.167 TREM2 Zornitza Stark Classified gene: TREM2 as Red List (low evidence)
Regression v0.167 TREM2 Zornitza Stark Gene: trem2 has been classified as Red List (Low Evidence).
Regression v0.166 TREM2 Zornitza Stark reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: 12080485, 15883308; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.166 FUS Zornitza Stark Marked gene: FUS as ready
Regression v0.166 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Regression v0.166 FUS Zornitza Stark Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030
Regression v0.165 FUS Zornitza Stark Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.164 FUS Zornitza Stark Classified gene: FUS as Red List (low evidence)
Regression v0.164 FUS Zornitza Stark Gene: fus has been classified as Red List (Low Evidence).
Regression v0.163 FUS Zornitza Stark reviewed gene: FUS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.163 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.163 ISCA2 Zornitza Stark Classified gene: ISCA2 as Green List (high evidence)
Regression v0.163 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Regression v0.162 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 25539947; 29297947; 29122497; 29359243
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Review for gene: ISCA2 was set to GREEN
Added comment: Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.
Sources: Expert Review
Regression v0.161 TGM6 Zornitza Stark Tag disputed was removed from gene: TGM6.
Tag refuted tag was added to gene: TGM6.
Regression v0.161 TGM6 Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908
Regression v0.160 TGM6 Zornitza Stark Publications for gene: TGM6 were set to
Regression v0.159 TGM6 Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.158 TGM6 Zornitza Stark Classified gene: TGM6 as Red List (low evidence)
Regression v0.158 TGM6 Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence).
Regression v0.157 TGM6 Zornitza Stark Tag disputed tag was added to gene: TGM6.
Regression v0.157 TGM6 Zornitza Stark edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA:
In a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513
Regression v0.157 TGM6 Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.157 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Regression v0.157 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Regression v0.157 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Regression v0.157 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Regression v0.157 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Regression v0.157 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Regression v0.157 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Regression v0.156 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Regression v0.155 SQSTM1 Zornitza Stark Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.154 SQSTM1 Zornitza Stark reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545679; Phenotypes: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.154 SLC20A2 Zornitza Stark Marked gene: SLC20A2 as ready
Regression v0.154 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Regression v0.154 SLC20A2 Zornitza Stark Phenotypes for gene: SLC20A2 were changed from to Basal ganglia calcification, idiopathic, 1, MIM# 213600
Regression v0.153 SLC20A2 Zornitza Stark Publications for gene: SLC20A2 were set to
Regression v0.152 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.152 SLC20A2 Zornitza Stark Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.151 SLC20A2 Zornitza Stark Classified gene: SLC20A2 as Red List (low evidence)
Regression v0.151 SLC20A2 Zornitza Stark Gene: slc20a2 has been classified as Red List (Low Evidence).
Regression v0.150 SLC20A2 Zornitza Stark reviewed gene: SLC20A2: Rating: RED; Mode of pathogenicity: None; Publications: 22327515, 23334463; Phenotypes: Basal ganglia calcification, idiopathic, 1, MIM# 213600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.150 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Regression v0.150 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Regression v0.150 HIBCH Zornitza Stark Classified gene: HIBCH as Green List (high evidence)
Regression v0.150 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Regression v0.149 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Regression. Sources: Expert list
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Review for gene: HIBCH was set to GREEN
Added comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported.
Sources: Expert list
Regression v0.148 FDXR Zornitza Stark Marked gene: FDXR as ready
Regression v0.148 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Regression v0.148 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM# 617717
Regression v0.147 FDXR Zornitza Stark Publications for gene: FDXR were set to
Regression v0.146 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.145 FDXR Zornitza Stark Classified gene: FDXR as Amber List (moderate evidence)
Regression v0.145 FDXR Zornitza Stark Gene: fdxr has been classified as Amber List (Moderate Evidence).
Regression v0.144 FDXR Zornitza Stark reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: None; Publications: 30250212; Phenotypes: Auditory neuropathy and optic atrophy, MIM# 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.144 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Regression v0.144 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Regression v0.144 TRAPPC6B Zornitza Stark Classified gene: TRAPPC6B as Green List (high evidence)
Regression v0.144 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Regression v0.143 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Regression. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Review for gene: TRAPPC6B was set to GREEN
Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia.
Sources: Expert Review
Regression v0.142 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Regression v0.142 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Green List (High Evidence).
Regression v0.142 TRAPPC12 Zornitza Stark Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Regression v0.141 TRAPPC12 Zornitza Stark Publications for gene: TRAPPC12 were set to
Regression v0.140 TRAPPC12 Zornitza Stark Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.139 TRAPPC12 Zornitza Stark reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.139 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Regression v0.139 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Regression v0.139 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Leukoencephalopathy, progressive, with ovarian failure MIM#615889
Regression v0.138 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Regression v0.137 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.136 AARS2 Zornitza Stark edited their review of gene: AARS2: Changed phenotypes: Leukoencephalopathy, progressive, with ovarian failure MIM#615889
Regression v0.136 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.136 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.136 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.135 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Regression v0.134 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Regression v0.134 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.134 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Regression v0.133 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Regression v0.132 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.131 TMEM237 Zornitza Stark Classified gene: TMEM237 as Red List (low evidence)
Regression v0.131 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.130 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: RED; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.130 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to Developmental delay; epilepsy; neurodegeneration; Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.129 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Developmental delay, epilepsy, neurodegeneration, Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Regression v0.129 HPDL Zornitza Stark Marked gene: HPDL as ready
Regression v0.129 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.129 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Regression v0.128 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Regression v0.128 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Regression v0.127 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Regression. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Regression v0.126 TBCE Zornitza Stark Marked gene: TBCE as ready
Regression v0.126 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Regression v0.126 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Regression v0.126 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Regression v0.125 TBCE Elena Savva gene: TBCE was added
gene: TBCE was added to Regression. 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 Encephalopathy, progressive, with amyotrophy and optic atrophy 617207
Review for gene: TBCE was set to GREEN
Added comment: PMID: 27666369 - 6 patients (4 families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies. Patients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity)
Missense variant p.I155N is recurring, very rare in gnomAD.
Sources: Literature
Regression v0.125 CACNA1E Zornitza Stark Marked gene: CACNA1E as ready
Regression v0.125 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Regression v0.125 CACNA1E Zornitza Stark Classified gene: CACNA1E as Green List (high evidence)
Regression v0.125 CACNA1E Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence).
Regression v0.124 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Regression v0.124 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Regression v0.124 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Green List (high evidence)
Regression v0.124 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Regression v0.123 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Regression. Sources: Expert list
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM# 618170
Review for gene: ADPRHL2 was set to GREEN
Added comment: 14 families reported, onset is in the first years of life following normal early development. Patients have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.
Sources: Expert list
Regression v0.122 IRF2BPL Zornitza Stark Marked gene: IRF2BPL as ready
Regression v0.122 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Regression v0.122 IRF2BPL Zornitza Stark Classified gene: IRF2BPL as Green List (high evidence)
Regression v0.122 IRF2BPL Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence).
Regression v0.121 IRF2BPL Elena Savva gene: IRF2BPL was added
gene: IRF2BPL was added to Regression. Sources: Literature
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRF2BPL were set to PMID: 30057031; 30166628
Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Review for gene: IRF2BPL was set to GREEN
Added comment: PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.

PMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients.
Sources: Literature
Regression v0.121 CACNA1E Elena Savva gene: CACNA1E was added
gene: CACNA1E was added to Regression. Sources: Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1E were set to PMID: 30343943
Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69 618285
Mode of pathogenicity for gene: CACNA1E was set to Other
Review for gene: CACNA1E was set to GREEN
Added comment: PMID: 30343943 - 30 patients with de novo variants and early-onset developmental and epileptic encephalopathy. Patients had developmental regression (9/30), severe hypotonia (16/30), seizures (26/30), congenital joint contractures (13/30), macrocephaly (13/30). MRI shows white matter loss, cortical atrophy
Variants showed a GOF and LOF.
Sources: Literature
Regression v0.121 GATM Zornitza Stark Marked gene: GATM as ready
Regression v0.121 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Regression v0.121 GATM Zornitza Stark Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, MIM# 612718
Regression v0.120 GATM Zornitza Stark Publications for gene: GATM were set to
Regression v0.119 GATM Zornitza Stark Mode of inheritance for gene: GATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.118 GATM Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12468279, 20682460, 22386973; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM# 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.118 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Regression v0.118 ARL13B Zornitza Stark Gene: arl13b has been classified as Red List (Low Evidence).
Regression v0.118 ARL13B Zornitza Stark Phenotypes for gene: ARL13B were changed from to Joubert syndrome 8, MIM# 612291
Regression v0.117 ARL13B Zornitza Stark Classified gene: ARL13B as Red List (low evidence)
Regression v0.117 ARL13B Zornitza Stark Gene: arl13b has been classified as Red List (Low Evidence).
Regression v0.116 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: None
Regression v0.116 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Regression v0.116 CRAT Zornitza Stark Marked gene: CRAT as ready
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.116 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Regression v0.116 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Regression v0.115 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Regression. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Regression v0.114 NAXD Zornitza Stark Marked gene: NAXD as ready
Regression v0.114 NAXD Zornitza Stark Gene: naxd has been classified as Green List (High Evidence).
Regression v0.114 NAXD Zornitza Stark Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Regression v0.113 NAXD Zornitza Stark Publications for gene: NAXD were set to
Regression v0.112 NAXD Zornitza Stark Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.111 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Regression v0.111 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Regression v0.111 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Regression v0.110 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Regression v0.109 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.108 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Regression v0.108 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Regression v0.107 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.107 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.107 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Regression v0.107 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Regression v0.106 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Regression. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Regression v0.105 NRROS Zornitza Stark Marked gene: NRROS as ready
Regression v0.105 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Regression v0.105 ZNF592 Zornitza Stark Marked gene: ZNF592 as ready
Regression v0.105 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Regression v0.105 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Regression v0.104 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Regression v0.103 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.102 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Regression v0.102 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Regression v0.101 ZNF592 Zornitza Stark reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.101 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Regression v0.101 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Regression v0.101 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Regression v0.101 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Regression v0.100 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Regression. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, six of those had a progressive course.
Sources: NHS GMS
Regression v0.99 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Regression v0.99 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Regression v0.99 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Regression v0.99 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Regression v0.98 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Regression. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Regression v0.97 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Regression v0.96 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Regression v0.96 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Regression v0.95 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Regression. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: Sources: Literature
Regression v0.94 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Regression v0.94 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Regression v0.94 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Regression v0.93 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Regression v0.92 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Red List (low evidence)
Regression v0.92 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Red List (Low Evidence).
Regression v0.91 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: RED; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: None
Regression v0.91 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.91 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Regression v0.91 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Regression v0.90 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Regression v0.89 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Regression v0.89 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.89 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Regression v0.88 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Regression v0.87 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.86 CAMTA1 Zornitza Stark Classified gene: CAMTA1 as Red List (low evidence)
Regression v0.86 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Red List (Low Evidence).
Regression v0.85 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.85 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Regression v0.85 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Regression v0.85 SPG11 Zornitza Stark Classified gene: SPG11 as Green List (high evidence)
Regression v0.85 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Regression v0.84 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099
Review for gene: SPG11 was set to GREEN
gene: SPG11 was marked as current diagnostic
Added comment: Complex neurological phenotypes with onset in first and second decade, characterised by gradual deterioration.
Sources: Expert Review
Regression v0.83 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Regression v0.83 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Regression v0.83 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Regression v0.82 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Regression v0.81 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.80 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Regression v0.80 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Regression v0.79 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.79 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Regression v0.79 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Regression v0.79 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Perinatal lethal encephalopathy; Spastic ataxia 4, autosomal recessive, MIM#613672
Regression v0.78 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Regression v0.77 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.76 MTPAP Zornitza Stark Classified gene: MTPAP as Amber List (moderate evidence)
Regression v0.76 MTPAP Zornitza Stark Gene: mtpap has been classified as Amber List (Moderate Evidence).
Regression v0.75 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 31779033; Phenotypes: Perinatal lethal encephalopathy, Spastic ataxia 4, autosomal recessive, MIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.75 RPIA Zornitza Stark Marked gene: RPIA as ready
Regression v0.75 RPIA Zornitza Stark Gene: rpia has been classified as Amber List (Moderate Evidence).
Regression v0.75 RPIA Zornitza Stark Classified gene: RPIA as Amber List (moderate evidence)
Regression v0.75 RPIA Zornitza Stark Gene: rpia has been classified as Amber List (Moderate Evidence).
Regression v0.74 RPIA Sebastian Lunke gene: RPIA was added
gene: RPIA was added to Regression. Sources: Expert Review
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433
Phenotypes for gene: RPIA were set to RPIA (ribose 5-phosphate isomerase A)
Review for gene: RPIA was set to AMBER
Added comment: Two of three patients described regressed in early childhood after earlier developmental delay

From GEL: Three patients described in total, one of these with functional data: Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay
Sources: Expert Review
Regression v0.73 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from Episodic ataxia; progressive neurological deterioration to Episodic ataxia; progressive neurological deterioration
Regression v0.73 UBR4 Zornitza Stark Marked gene: UBR4 as ready
Regression v0.73 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Regression v0.73 UBR4 Zornitza Stark Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration
Regression v0.72 UBR4 Zornitza Stark Publications for gene: UBR4 were set to
Regression v0.72 UBR4 Zornitza Stark Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.71 UBR4 Zornitza Stark Classified gene: UBR4 as Red List (low evidence)
Regression v0.71 UBR4 Zornitza Stark Gene: ubr4 has been classified as Red List (Low Evidence).
Regression v0.70 UBR4 Zornitza Stark reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.70 SERPINI1 Zornitza Stark Marked gene: SERPINI1 as ready
Regression v0.70 SERPINI1 Zornitza Stark Gene: serpini1 has been classified as Green List (High Evidence).
Regression v0.70 SERPINI1 Zornitza Stark Phenotypes for gene: SERPINI1 were changed from to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218
Regression v0.69 SERPINI1 Zornitza Stark Publications for gene: SERPINI1 were set to
Regression v0.68 SERPINI1 Zornitza Stark Mode of inheritance for gene: SERPINI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.67 SERPINI1 Zornitza Stark reviewed gene: SERPINI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28631894, 25401298, 12103288; Phenotypes: Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218; Mode of inheritance: None
Regression v0.67 COA5 Zornitza Stark Marked gene: COA5 as ready
Regression v0.67 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Regression v0.67 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Regression v0.67 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Regression v0.67 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from Mitochondrial complex I deficiency, nuclear type 23 618244 to Mitochondrial complex I deficiency, nuclear type 23 618244
Regression v0.67 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Regression v0.66 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Regression v0.66 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Regression v0.65 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.65 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Regression v0.65 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Regression v0.64 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.64 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Regression v0.63 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Regression v0.62 COA5 Zornitza Stark Publications for gene: COA5 were set to
Regression v0.61 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.61 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Regression v0.61 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Regression v0.60 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.60 Zornitza Stark Panel name changed from Regression_VCGS to Regression
Panel types changed to Victorian Clinical Genetics Services
Regression v0.59 NOTCH2NL Sue White Marked gene: NOTCH2NL as ready
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.59 NOTCH2NL Sue White Classified gene: NOTCH2NL as Green List (high evidence)
Regression v0.59 NOTCH2NL Sue White Gene: notch2nl has been classified as Green List (High Evidence).
Regression v0.58 NOTCH2NL Sue White gene: NOTCH2NL was added
gene: NOTCH2NL was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2NL were set to 31332381
Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID
Penetrance for gene: NOTCH2NL were set to Incomplete
Mode of pathogenicity for gene: NOTCH2NL was set to Other
Review for gene: NOTCH2NL was set to GREEN
Added comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Regression v0.57 NUP214 Zornitza Stark Marked gene: NUP214 as ready
Regression v0.57 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.57 NUP214 Zornitza Stark Publications for gene: NUP214 were set to 31178128
Regression v0.56 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Regression v0.55 NUP214 Zornitza Stark Classified gene: NUP214 as Green List (high evidence)
Regression v0.55 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Regression v0.54 NUP214 Sue White gene: NUP214 was added
gene: NUP214 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly
Review for gene: NUP214 was set to GREEN
gene: NUP214 was marked as current diagnostic
Added comment: Sources: Literature
Regression v0.53 H3F3B Zornitza Stark Classified gene: H3F3B as Amber List (moderate evidence)
Regression v0.53 H3F3B Zornitza Stark Gene: h3f3b has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3B Zornitza Stark commented on gene: H3F3B: Elizabeth J Bhoj, H3F3A/B Consortium, Hakon H. Hakonarson.: Mutations In H3f3a And H3f3b Encoding Histone 3.3: Report Of 26 Patients With Neurodevelopmental And Congenital Manifestations. American Society of Human Genetics, Orlando, FL October 2017 Notes: Platform Presentation.
Regression v0.52 H3F3A Zornitza Stark Marked gene: H3F3A as ready
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.52 H3F3A Zornitza Stark Classified gene: H3F3A as Amber List (moderate evidence)
Regression v0.52 H3F3A Zornitza Stark Gene: h3f3a has been classified as Amber List (Moderate Evidence).
Regression v0.51 H3F3A Zornitza Stark commented on gene: H3F3A
Regression v0.51 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846; 30423442
Regression v0.50 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.50 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.50 PDE6D Zornitza Stark Publications for gene: PDE6D were set to 24166846
Regression v0.49 PDE6D Zornitza Stark Marked gene: PDE6D as ready
Regression v0.49 PDE6D Zornitza Stark Added comment: Comment when marking as ready: Two families; link with regression not established.
Regression v0.49 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.49 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Regression v0.48 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from Joubert syndrome 22, OMIM #615665 to Joubert syndrome 22, OMIM #615665
Regression v0.47 PDE6D Zornitza Stark Phenotypes for gene: PDE6D were changed from to Joubert syndrome 22, OMIM #615665
Regression v0.47 PDE6D Zornitza Stark Publications for gene: PDE6D were set to
Regression v0.46 PDE6D Zornitza Stark Mode of inheritance for gene: PDE6D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.46 PDE6D Zornitza Stark Classified gene: PDE6D as Red List (low evidence)
Regression v0.46 PDE6D Zornitza Stark Gene: pde6d has been classified as Red List (Low Evidence).
Regression v0.45 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Regression v0.45 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.45 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844
Regression v0.44 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844
Regression v0.43 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Regression v0.43 ZNF423 Zornitza Stark Mode of inheritance for gene: ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.42 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Regression v0.42 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Regression v0.41 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Regression v0.41 RNF13 Zornitza Stark Marked gene: RNF13 as ready
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.41 RNF13 Zornitza Stark Classified gene: RNF13 as Green List (high evidence)
Regression v0.41 RNF13 Zornitza Stark Gene: rnf13 has been classified as Green List (High Evidence).
Regression v0.40 RNF13 Zornitza Stark gene: RNF13 was added
gene: RNF13 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379
Mode of pathogenicity for gene: RNF13 was set to Other
Review for gene: RNF13 was set to GREEN
Added comment: Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: Literature
Regression v0.39 CAD Zornitza Stark Marked gene: CAD as ready
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.39 CAD Zornitza Stark Classified gene: CAD as Green List (high evidence)
Regression v0.39 CAD Zornitza Stark Gene: cad has been classified as Green List (High Evidence).
Regression v0.38 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Regression_VCGS. Sources: Expert list
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAD were set to 28007989; 25678555
Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457
Review for gene: CAD was set to GREEN
Added comment: Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Regression v0.37 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.37 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Regression v0.37 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Regression v0.36 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Regression_VCGS. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 31754459; 27904971
Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration
Review for gene: SLC5A6 was set to GREEN
Added comment: Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Literature
Regression v0.35 ATP2B3 Zornitza Stark Marked gene: ATP2B3 as ready
Regression v0.35 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from Spinocerebellar ataxia, X-linked 1, MIM#302500 to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.35 ATP2B3 Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500
Regression v0.34 ATP2B3 Zornitza Stark Publications for gene: ATP2B3 were set to
Regression v0.33 ATP2B3 Zornitza Stark Mode of inheritance for gene: ATP2B3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.32 ATP2B3 Zornitza Stark Classified gene: ATP2B3 as Amber List (moderate evidence)
Regression v0.32 ATP2B3 Zornitza Stark Gene: atp2b3 has been classified as Amber List (Moderate Evidence).
Regression v0.31 ATP2B3 Zornitza Stark reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Regression v0.31 CACNB4 Zornitza Stark Marked gene: CACNB4 as ready
Regression v0.31 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.31 CACNB4 Zornitza Stark Phenotypes for gene: CACNB4 were changed from to Episodic ataxia, type 5, MIM#613855
Regression v0.30 CACNB4 Zornitza Stark Publications for gene: CACNB4 were set to
Regression v0.29 CACNB4 Zornitza Stark Mode of inheritance for gene: CACNB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.28 CACNB4 Zornitza Stark Classified gene: CACNB4 as Amber List (moderate evidence)
Regression v0.28 CACNB4 Zornitza Stark Gene: cacnb4 has been classified as Amber List (Moderate Evidence).
Regression v0.27 CACNB4 Zornitza Stark reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 10762541, 9628818, 27003325; Phenotypes: Episodic ataxia, type 5, MIM#613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.27 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.26 CCDC88C Zornitza Stark Marked gene: CCDC88C as ready
Regression v0.26 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.26 CCDC88C Zornitza Stark Mode of inheritance for gene: CCDC88C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.25 CCDC88C Zornitza Stark Phenotypes for gene: CCDC88C were changed from to Spinocerebellar ataxia 40, MIM#616053
Regression v0.24 CCDC88C Zornitza Stark Publications for gene: CCDC88C were set to
Regression v0.23 CCDC88C Zornitza Stark Classified gene: CCDC88C as Amber List (moderate evidence)
Regression v0.23 CCDC88C Zornitza Stark Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Regression v0.22 CCDC88C Zornitza Stark reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25062847, 30398676; Phenotypes: Spinocerebellar ataxia 40, MIM#616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.22 EEF2 Zornitza Stark Marked gene: EEF2 as ready
Regression v0.22 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.22 EEF2 Zornitza Stark Phenotypes for gene: EEF2 were changed from to Spinocerebellar ataxia 26
Regression v0.22 EEF2 Zornitza Stark Publications for gene: EEF2 were set to
Regression v0.21 EEF2 Zornitza Stark Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.21 EEF2 Zornitza Stark Classified gene: EEF2 as Red List (low evidence)
Regression v0.21 EEF2 Zornitza Stark Gene: eef2 has been classified as Red List (Low Evidence).
Regression v0.20 EEF2 Zornitza Stark reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.20 NUP62 Zornitza Stark Classified gene: NUP62 as Green List (high evidence)
Regression v0.20 NUP62 Zornitza Stark Gene: nup62 has been classified as Green List (High Evidence).
Regression v0.19 NUP62 Zornitza Stark Classified gene: NUP62 as Green List (high evidence)
Regression v0.19 NUP62 Zornitza Stark Gene: nup62 has been classified as Green List (High Evidence).
Regression v0.18 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Regression v0.18 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Regression v0.18 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Regression_VCGS. Sources: Expert Review
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, MIM#271930
Review for gene: NUP62 was set to GREEN
Added comment: Multiple affected individuals, variable age of onset, may be after a viral trigger.
Sources: Expert Review
Regression v0.17 MARS2 Zornitza Stark Deleted their review
Regression v0.16 CP Zornitza Stark Marked gene: CP as ready
Regression v0.16 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Regression v0.16 CP Zornitza Stark Mode of inheritance for gene: CP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Regression v0.15 CP Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290
Regression v0.15 CP Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.14 CP Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.14 COX14 Zornitza Stark Marked gene: COX14 as ready
Regression v0.14 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Regression v0.14 COX14 Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.13 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Regression v0.12 COX14 Zornitza Stark Publications for gene: COX14 were set to
Regression v0.11 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Regression v0.11 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Regression v0.10 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.10 CA8 Zornitza Stark Marked gene: CA8 as ready
Regression v0.10 CA8 Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence).
Regression v0.10 CA8 Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Regression v0.9 CA8 Zornitza Stark Publications for gene: CA8 were set to
Regression v0.8 CA8 Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.6 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Regression v0.6 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Regression v0.6 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Regression v0.6 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Regression v0.5 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Regression_VCGS. Sources: Expert Review
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFIH1 were set to 24686847
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846
Mode of pathogenicity for gene: IFIH1 was set to Other
Review for gene: IFIH1 was set to GREEN
Added comment: Gain-of-function variants in this gene cause AGS, some affected individuals experience episodic neurological regression
Sources: Expert Review
Regression v0.4 TBCD Zornitza Stark Marked gene: TBCD as ready
Regression v0.4 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Regression v0.4 TBCD Zornitza Stark Classified gene: TBCD as Green List (high evidence)
Regression v0.4 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Regression v0.3 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Regression_VCGS. Sources: Expert Review
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666370; 27666374
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Review for gene: TBCD was set to GREEN
Added comment: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert Review
Regression v0.2 H3F3B Zornitza Stark Marked gene: H3F3B as ready
Regression v0.2 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Regression v0.2 H3F3B Zornitza Stark Classified gene: H3F3B as Red List (low evidence)
Regression v0.2 H3F3B Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence).
Regression v0.0 ZNF592 Zornitza Stark gene: ZNF592 was added
gene: ZNF592 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF592 was set to Unknown
Regression v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF423 was set to Unknown
Regression v0.0 ZIC4 Zornitza Stark gene: ZIC4 was added
gene: ZIC4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC4 was set to Unknown
Regression v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC1 was set to Unknown
Regression v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPC was set to Unknown
Regression v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPA was set to Unknown
Regression v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WWOX was set to Unknown
Regression v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to Unknown
Regression v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR81 was set to Unknown
Regression v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR45 was set to Unknown
Regression v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VRK1 was set to Unknown
Regression v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS53 was set to Unknown
Regression v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Regression v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAMP1 was set to Unknown
Regression v0.0 VAC14 Zornitza Stark gene: VAC14 was added
gene: VAC14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAC14 was set to Unknown
Regression v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRB was set to Unknown
Regression v0.0 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCHL1 was set to Unknown
Regression v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBTF was set to Unknown
Regression v0.0 UBR4 Zornitza Stark gene: UBR4 was added
gene: UBR4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBR4 was set to Unknown
Regression v0.0 UBQLN2 Zornitza Stark gene: UBQLN2 was added
gene: UBQLN2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBQLN2 was set to Unknown
Regression v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3A was set to Unknown
Regression v0.0 TYROBP Zornitza Stark gene: TYROBP was added
gene: TYROBP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYROBP was set to Unknown
Regression v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWNK was set to Unknown
Regression v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4A was set to Unknown
Regression v0.0 TTR Zornitza Stark gene: TTR was added
gene: TTR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTR was set to Unknown
Regression v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTPA was set to Unknown
Regression v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Regression v0.0 TTBK2 Zornitza Stark gene: TTBK2 was added
gene: TTBK2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTBK2 was set to Unknown
Regression v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Regression v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN34 was set to Unknown
Regression v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN2 was set to Unknown
Regression v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREX1 was set to Unknown
Regression v0.0 TREM2 Zornitza Stark gene: TREM2 was added
gene: TREM2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREM2 was set to Unknown
Regression v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC12 was set to Unknown
Regression v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC11 was set to Unknown
Regression v0.0 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAK1 was set to Unknown
Regression v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPP1 was set to Unknown
Regression v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPK1 was set to Unknown
Regression v0.0 TOR1A Zornitza Stark gene: TOR1A was added
gene: TOR1A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOR1A was set to Unknown
Regression v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM67 was set to Unknown
Regression v0.0 TMEM240 Zornitza Stark gene: TMEM240 was added
gene: TMEM240 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM240 was set to Unknown
Regression v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM237 was set to Unknown
Regression v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM231 was set to Unknown
Regression v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM216 was set to Unknown
Regression v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM138 was set to Unknown
Regression v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM8A was set to Unknown
Regression v0.0 THAP1 Zornitza Stark gene: THAP1 was added
gene: THAP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THAP1 was set to Unknown
Regression v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TH was set to Unknown
Regression v0.0 TGM6 Zornitza Stark gene: TGM6 was added
gene: TGM6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGM6 was set to Unknown
Regression v0.0 TDP1 Zornitza Stark gene: TDP1 was added
gene: TDP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TDP1 was set to Unknown
Regression v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN3 was set to Unknown
Regression v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN2 was set to Unknown
Regression v0.0 TCTN1 Zornitza Stark gene: TCTN1 was added
gene: TCTN1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN1 was set to Unknown
Regression v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF4 was set to Unknown
Regression v0.0 TBP Zornitza Stark gene: TBP was added
gene: TBP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBP was set to Unknown
Regression v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TACO1 was set to Unknown
Regression v0.0 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYT14 was set to Unknown
Regression v0.0 SYT1 Zornitza Stark gene: SYT1 was added
gene: SYT1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYT1 was set to Unknown
Regression v0.0 SYNJ1 Zornitza Stark gene: SYNJ1 was added
gene: SYNJ1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNJ1 was set to Unknown
Regression v0.0 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYNE1 was set to Unknown
Regression v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SURF1 was set to Unknown
Regression v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUMF1 was set to Unknown
Regression v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUCLA2 was set to Unknown
Regression v0.0 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STUB1 was set to Unknown
Regression v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SQSTM1 was set to Unknown
Regression v0.0 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTBN2 was set to Unknown
Regression v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPR was set to Unknown
Regression v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A6 was set to Unknown
Regression v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A8 was set to Unknown
Regression v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A3 was set to Unknown
Regression v0.0 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A19 was set to Unknown
Regression v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC30A10 was set to Unknown
Regression v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC2A1 was set to Unknown
Regression v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A4 was set to Unknown
Regression v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A15 was set to Unknown
Regression v0.0 SLC20A2 Zornitza Stark gene: SLC20A2 was added
gene: SLC20A2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC20A2 was set to Unknown
Regression v0.0 SLC1A3 Zornitza Stark gene: SLC1A3 was added
gene: SLC1A3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC1A3 was set to Unknown
Regression v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC19A3 was set to Unknown
Regression v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC17A5 was set to Unknown
Regression v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIL1 was set to Unknown
Regression v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGSH was set to Unknown
Regression v0.0 SGCE Zornitza Stark gene: SGCE was added
gene: SGCE was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGCE was set to Unknown
Regression v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETX was set to Unknown
Regression v0.0 SERPINI1 Zornitza Stark gene: SERPINI1 was added
gene: SERPINI1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINI1 was set to Unknown
Regression v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEPSECS was set to Unknown
Regression v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO2 was set to Unknown
Regression v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO1 was set to Unknown
Regression v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN3A was set to Unknown
Regression v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB2 was set to Unknown
Regression v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMHD1 was set to Unknown
Regression v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SACS was set to Unknown
Regression v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RRM2B was set to Unknown
Regression v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Regression v0.0 RNF216 Zornitza Stark gene: RNF216 was added
gene: RNF216 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNF216 was set to Unknown
Regression v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2C was set to Unknown
Regression v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2B was set to Unknown
Regression v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2A was set to Unknown
Regression v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Regression v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTS was set to Unknown
Regression v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN23 was set to Unknown
Regression v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSAP was set to Unknown
Regression v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRRT2 was set to Unknown
Regression v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRPS1 was set to Unknown
Regression v0.0 PRKRA Zornitza Stark gene: PRKRA was added
gene: PRKRA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKRA was set to Unknown
Regression v0.0 PRKN Zornitza Stark gene: PRKN was added
gene: PRKN was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKN was set to Unknown
Regression v0.0 PRKCG Zornitza Stark gene: PRKCG was added
gene: PRKCG was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRKCG was set to Unknown
Regression v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRICKLE1 was set to Unknown
Regression v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPT1 was set to Unknown
Regression v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3B was set to Unknown
Regression v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3A was set to Unknown
Regression v0.0 POLG2 Zornitza Stark gene: POLG2 was added
gene: POLG2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG2 was set to Unknown
Regression v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Regression v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA6 was set to Unknown
Regression v0.0 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNKD was set to Unknown
Regression v0.0 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMPCB was set to Unknown
Regression v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMM2 was set to Unknown
Regression v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLP1 was set to Unknown
Regression v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLA2G6 was set to Unknown
Regression v0.0 PIK3R5 Zornitza Stark gene: PIK3R5 was added
gene: PIK3R5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R5 was set to Unknown
Regression v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHYH was set to Unknown
Regression v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Regression v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PET100 was set to Unknown
Regression v0.0 PDYN Zornitza Stark gene: PDYN was added
gene: PDYN was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDYN was set to Unknown
Regression v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS2 was set to Unknown
Regression v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS1 was set to Unknown
Regression v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDP1 was set to Unknown
Regression v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHX was set to Unknown
Regression v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHB was set to Unknown
Regression v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHA1 was set to Unknown
Regression v0.0 PDGFRB Zornitza Stark gene: PDGFRB was added
gene: PDGFRB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDGFRB was set to Unknown
Regression v0.0 PDGFB Zornitza Stark gene: PDGFB was added
gene: PDGFB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDGFB was set to Unknown
Regression v0.0 PDE6D Zornitza Stark gene: PDE6D was added
gene: PDE6D was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDE6D was set to Unknown
Regression v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCB was set to Unknown
Regression v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCA was set to Unknown
Regression v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PC was set to Unknown
Regression v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX6 was set to Unknown
Regression v0.0 PARK7 Zornitza Stark gene: PARK7 was added
gene: PARK7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARK7 was set to Unknown
Regression v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PANK2 was set to Unknown
Regression v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTC was set to Unknown
Regression v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPHN1 was set to Unknown
Regression v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA1 was set to Unknown
Regression v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Regression v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUBPL was set to Unknown
Regression v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP1 was set to Unknown
Regression v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC2 was set to Unknown
Regression v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPC1 was set to Unknown
Regression v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH3 was set to Unknown
Regression v0.0 NOP56 Zornitza Stark gene: NOP56 was added
gene: NOP56 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOP56 was set to Unknown
Regression v0.0 NOL3 Zornitza Stark gene: NOL3 was added
gene: NOL3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOL3 was set to Unknown
Regression v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHLRC1 was set to Unknown
Regression v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEU1 was set to Unknown
Regression v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV2 was set to Unknown
Regression v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV1 was set to Unknown
Regression v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS8 was set to Unknown
Regression v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS7 was set to Unknown
Regression v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS6 was set to Unknown
Regression v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS4 was set to Unknown
Regression v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS3 was set to Unknown
Regression v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS2 was set to Unknown
Regression v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS1 was set to Unknown
Regression v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB3 was set to Unknown
Regression v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF6 was set to Unknown
Regression v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Regression v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF4 was set to Unknown
Regression v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF3 was set to Unknown
Regression v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF2 was set to Unknown
Regression v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF1 was set to Unknown
Regression v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA9 was set to Unknown
Regression v0.0 NDUFA4 Zornitza Stark gene: NDUFA4 was added
gene: NDUFA4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA4 was set to Unknown
Regression v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA2 was set to Unknown
Regression v0.0 NDUFA12 Zornitza Stark gene: NDUFA12 was added
gene: NDUFA12 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA12 was set to Unknown
Regression v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA11 was set to Unknown
Regression v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA10 was set to Unknown
Regression v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA1 was set to Unknown
Regression v0.0 NAXD Zornitza Stark gene: NAXD was added
gene: NAXD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAXD was set to Unknown
Regression v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAGLU was set to Unknown
Regression v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUT was set to Unknown
Regression v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTTP was set to Unknown
Regression v0.0 MTPAP Zornitza Stark gene: MTPAP was added
gene: MTPAP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTPAP was set to Unknown
Regression v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTHFR was set to Unknown
Regression v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRE11 was set to Unknown
Regression v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMADHC was set to Unknown
Regression v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMACHC was set to Unknown
Regression v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMAB was set to Unknown
Regression v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMAA was set to Unknown
Regression v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFSD8 was set to Unknown
Regression v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Regression v0.0 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCEE was set to Unknown
Regression v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARS2 was set to Unknown
Regression v0.0 MAPT Zornitza Stark gene: MAPT was added
gene: MAPT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAPT was set to Unknown
Regression v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAN2B1 was set to Unknown
Regression v0.0 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRRK2 was set to Unknown
Regression v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRPPRC was set to Unknown
Regression v0.0 LMNB1 Zornitza Stark gene: LMNB1 was added
gene: LMNB1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNB1 was set to Unknown
Regression v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIAS was set to Unknown
Regression v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA1 was set to Unknown
Regression v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: L2HGDH was set to Unknown
Regression v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF7 was set to Unknown
Regression v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF1A was set to Unknown
Regression v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCTD7 was set to Unknown
Regression v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ10 was set to Unknown
Regression v0.0 KCND3 Zornitza Stark gene: KCND3 was added
gene: KCND3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCND3 was set to Unknown
Regression v0.0 KCNC3 Zornitza Stark gene: KCNC3 was added
gene: KCNC3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNC3 was set to Unknown
Regression v0.0 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNA1 was set to Unknown
Regression v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IVD was set to Unknown
Regression v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITPR1 was set to Unknown
Regression v0.0 ITM2B Zornitza Stark gene: ITM2B was added
gene: ITM2B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITM2B was set to Unknown
Regression v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5E was set to Unknown
Regression v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HTRA1 was set to Unknown
Regression v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B4 was set to Unknown
Regression v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPRT1 was set to Unknown
Regression v0.0 HMBS Zornitza Stark gene: HMBS was added
gene: HMBS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMBS was set to Unknown
Regression v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HLCS was set to Unknown
Regression v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HGSNAT was set to Unknown
Regression v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXB was set to Unknown
Regression v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEXA was set to Unknown
Regression v0.0 H3F3B Zornitza Stark gene: H3F3B was added
gene: H3F3B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3B was set to Unknown
Regression v0.0 H3F3A Zornitza Stark gene: H3F3A was added
gene: H3F3A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: H3F3A was set to Unknown
Regression v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRM1 was set to Unknown
Regression v0.0 GRID2 Zornitza Stark gene: GRID2 was added
gene: GRID2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRID2 was set to Unknown
Regression v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GOSR2 was set to Unknown
Regression v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNS was set to Unknown
Regression v0.0 GNAL Zornitza Stark gene: GNAL was added
gene: GNAL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNAL was set to Unknown
Regression v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLB1 was set to Unknown
Regression v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLA was set to Unknown
Regression v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFAP was set to Unknown
Regression v0.0 GCLC Zornitza Stark gene: GCLC was added
gene: GCLC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCLC was set to Unknown
Regression v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCH1 was set to Unknown
Regression v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCDH was set to Unknown
Regression v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBE1 was set to Unknown
Regression v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA2 was set to Unknown
Regression v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GBA was set to Unknown
Regression v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATM was set to Unknown
Regression v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAMT was set to Unknown
Regression v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALC was set to Unknown
Regression v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FXN was set to Unknown
Regression v0.0 FUS Zornitza Stark gene: FUS was added
gene: FUS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FUS was set to Unknown
Regression v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FUCA1 was set to Unknown
Regression v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FTL was set to Unknown
Regression v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXRED1 was set to Unknown
Regression v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXG1 was set to Unknown
Regression v0.0 FGF14 Zornitza Stark gene: FGF14 was added
gene: FGF14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF14 was set to Unknown
Regression v0.0 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FDXR was set to Unknown
Regression v0.0 FBXO7 Zornitza Stark gene: FBXO7 was added
gene: FBXO7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBXO7 was set to Unknown
Regression v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASTKD2 was set to Unknown
Regression v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FA2H was set to Unknown
Regression v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC3 was set to Unknown
Regression v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC8 was set to Unknown
Regression v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Regression v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC5 was set to Unknown
Regression v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC4 was set to Unknown
Regression v0.0 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC3 was set to Unknown
Regression v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC2 was set to Unknown
Regression v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC1 was set to Unknown
Regression v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPM2A was set to Unknown
Regression v0.0 ELOVL5 Zornitza Stark gene: ELOVL5 was added
gene: ELOVL5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELOVL5 was set to Unknown
Regression v0.0 ELOVL4 Zornitza Stark gene: ELOVL4 was added
gene: ELOVL4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELOVL4 was set to Unknown
Regression v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B5 was set to Unknown
Regression v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B4 was set to Unknown
Regression v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B3 was set to Unknown
Regression v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B2 was set to Unknown
Regression v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EIF2B1 was set to Unknown
Regression v0.0 EEF2 Zornitza Stark gene: EEF2 was added
gene: EEF2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EEF2 was set to Unknown
Regression v0.0 DRD2 Zornitza Stark gene: DRD2 was added
gene: DRD2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DRD2 was set to Unknown
Regression v0.0 DNMT1 Zornitza Stark gene: DNMT1 was added
gene: DNMT1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNMT1 was set to Unknown
Regression v0.0 DNAJC5 Zornitza Stark gene: DNAJC5 was added
gene: DNAJC5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC5 was set to Unknown
Regression v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC19 was set to Unknown
Regression v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLD was set to Unknown
Regression v0.0 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLAT was set to Unknown
Regression v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DKC1 was set to Unknown
Regression v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDC was set to Unknown
Regression v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDB2 was set to Unknown
Regression v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCAF17 was set to Unknown
Regression v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DBT was set to Unknown
Regression v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DARS2 was set to Unknown
Regression v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: D2HGDH was set to Unknown
Regression v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP27A1 was set to Unknown
Regression v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL4B was set to Unknown
Regression v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSF was set to Unknown
Regression v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSD was set to Unknown
Regression v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTSA was set to Unknown
Regression v0.0 CTDP1 Zornitza Stark gene: CTDP1 was added
gene: CTDP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTDP1 was set to Unknown
Regression v0.0 CST3 Zornitza Stark gene: CST3 was added
gene: CST3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CST3 was set to Unknown
Regression v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSPP1 was set to Unknown
Regression v0.0 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSF1R was set to Unknown
Regression v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPS1 was set to Unknown
Regression v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C5orf42 was set to Unknown
Regression v0.0 CP Zornitza Stark gene: CP was added
gene: CP was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CP was set to Unknown
Regression v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX6B1 was set to Unknown
Regression v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX20 was set to Unknown
Regression v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX15 was set to Unknown
Regression v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX14 was set to Unknown
Regression v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX10 was set to Unknown
Regression v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ9 was set to Unknown
Regression v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Regression v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ6 was set to Unknown
Regression v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ4 was set to Unknown
Regression v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ2 was set to Unknown
Regression v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Regression v0.0 COASY Zornitza Stark gene: COASY was added
gene: COASY was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COASY was set to Unknown
Regression v0.0 COA5 Zornitza Stark gene: COA5 was added
gene: COA5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COA5 was set to Unknown
Regression v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN8 was set to Unknown
Regression v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN6 was set to Unknown
Regression v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN5 was set to Unknown
Regression v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLN3 was set to Unknown
Regression v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN2 was set to Unknown
Regression v0.0 CIZ1 Zornitza Stark gene: CIZ1 was added
gene: CIZ1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CIZ1 was set to Unknown
Regression v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CISD2 was set to Unknown
Regression v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHMP1A was set to Unknown
Regression v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP41 was set to Unknown
Regression v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP290 was set to Unknown
Regression v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC88C was set to Unknown
Regression v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CC2D2A was set to Unknown
Regression v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CBS was set to Unknown
Regression v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASK was set to Unknown
Regression v0.0 CAMTA1 Zornitza Stark gene: CAMTA1 was added
gene: CAMTA1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAMTA1 was set to Unknown
Regression v0.0 CACNB4 Zornitza Stark gene: CACNB4 was added
gene: CACNB4 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNB4 was set to Unknown
Regression v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CACNA1A was set to Unknown
Regression v0.0 CA8 Zornitza Stark gene: CA8 was added
gene: CA8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CA8 was set to Unknown
Regression v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C19orf12 was set to Unknown
Regression v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf65 was set to Unknown
Regression v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BTD was set to Unknown
Regression v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCS1L was set to Unknown
Regression v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCKDHB was set to Unknown
Regression v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCKDHA was set to Unknown
Regression v0.0 ATPAF2 Zornitza Stark gene: ATPAF2 was added
gene: ATPAF2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATPAF2 was set to Unknown
Regression v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP8A2 was set to Unknown
Regression v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP7B was set to Unknown
Regression v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP7A was set to Unknown
Regression v0.0 ATP2B3 Zornitza Stark gene: ATP2B3 was added
gene: ATP2B3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP2B3 was set to Unknown
Regression v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP1A3 was set to Unknown
Regression v0.0 ATN1 Zornitza Stark gene: ATN1 was added
gene: ATN1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATN1 was set to Unknown
Regression v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATM was set to Unknown
Regression v0.0 ATCAY Zornitza Stark gene: ATCAY was added
gene: ATCAY was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATCAY was set to Unknown
Regression v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATAD1 was set to Unknown
Regression v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASS1 was set to Unknown
Regression v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASPA was set to Unknown
Regression v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASL was set to Unknown
Regression v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSA was set to Unknown
Regression v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL13B was set to Unknown
Regression v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARG1 was set to Unknown
Regression v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APTX was set to Unknown
Regression v0.0 ANO3 Zornitza Stark gene: ANO3 was added
gene: ANO3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANO3 was set to Unknown
Regression v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANO10 was set to Unknown
Regression v0.0 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMACR was set to Unknown
Regression v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG6 was set to Unknown
Regression v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH5A1 was set to Unknown
Regression v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHI1 was set to Unknown
Regression v0.0 AFG3L2 Zornitza Stark gene: AFG3L2 was added
gene: AFG3L2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AFG3L2 was set to Unknown
Regression v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAR was set to Unknown
Regression v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACO2 was set to Unknown
Regression v0.0 ABHD12 Zornitza Stark gene: ABHD12 was added
gene: ABHD12 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABHD12 was set to Unknown
Regression v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCD1 was set to Unknown
Regression v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB7 was set to Unknown
Regression v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS2 was set to Unknown
Regression v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AAAS was set to Unknown
Regression v0.0 Zornitza Stark Added panel Regression_VCGS