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Hereditary Spastic Paraplegia v2.57 AAAS Bryony Thompson Classified gene: AAAS as Green List (high evidence)
Hereditary Spastic Paraplegia v2.57 AAAS Bryony Thompson Gene: aaas has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.56 AAAS Bryony Thompson edited their review of gene: AAAS: Added comment: 4 families with spasticity as a feature of the phenotype: 3 with complicated HSP and 1 with spastic ataxia; Changed rating: GREEN; Changed publications: 32146693, 30381913; Changed phenotypes: Syndromic disease, MONDO:0002254
Hereditary Spastic Paraplegia v2.56 ATP1A1 Bryony Thompson Classified gene: ATP1A1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.56 ATP1A1 Bryony Thompson Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.55 ATP1A1 Bryony Thompson reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35110381, 33968856, 31705535; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia v2.55 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Hereditary Spastic Paraplegia v2.55 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.55 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.55 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.54 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 37890668; 36951944; 31186544
Phenotypes for gene: DEGS1 were set to leukodystrophy, hypomyelinating, 18, MONDO:0032730
Review for gene: DEGS1 was set to GREEN
Added comment: Spasticity is a feature of the phenotype. Functional studies (plasma sphingolipid profiling, patient‑blood lipidomics and fibroblast mitochondrial assays) demonstrate loss‑of‑function of DEGS1, though rescue experiments are lacking.
Sources: Literature
Hereditary Spastic Paraplegia v2.53 DARS2 Bryony Thompson Marked gene: DARS2 as ready
Hereditary Spastic Paraplegia v2.53 DARS2 Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.53 DARS2 Bryony Thompson Classified gene: DARS2 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.53 DARS2 Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.52 DARS2 Bryony Thompson changed review comment from: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants presenting with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria.
Sources: Literature; to: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria.
Sources: Literature
Hereditary Spastic Paraplegia v2.52 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 33977142
Phenotypes for gene: DARS2 were set to leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, MONDO:0012622
Review for gene: DARS2 was set to GREEN
Added comment: PMID 33977142 reports 9 individuals with early-onset severe cerebral hypoplasia/atrophy with biallelic DARS2 variants presenting with spasticity present in all cases. The disease is a recessive loss‑of‑function mitochondrial disorder, supported by segregation and yeast functional assays, meeting the PanelApp diagnostic‑grade criteria.
Sources: Literature
Hereditary Spastic Paraplegia v2.51 CTNNB1 Bryony Thompson Marked gene: CTNNB1 as ready
Hereditary Spastic Paraplegia v2.51 CTNNB1 Bryony Thompson Gene: ctnnb1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.51 CTNNB1 Bryony Thompson Classified gene: CTNNB1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.51 CTNNB1 Bryony Thompson Gene: ctnnb1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.50 CTNNB1 Bryony Thompson gene: CTNNB1 was added
gene: CTNNB1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to 40771987; 40322871; 37455656; 36419413; 36083290; 33350591
Phenotypes for gene: CTNNB1 were set to CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571; Neurodevelopmental disorder, MONDO:0700092
Review for gene: CTNNB1 was set to GREEN
Added comment: CTNNB1 encodes β‑catenin, a key Wnt‑signalling protein. Heterozygous loss‑of‑function variants cause a neurodevelopmental disorder with spastic diplegia, visual defects and variable additional features (CTNNB1‑related neurodevelopmental disorder and/or vitreoretinopathy).
Sources: Literature
Hereditary Spastic Paraplegia v2.49 CSF1R Bryony Thompson Marked gene: CSF1R as ready
Hereditary Spastic Paraplegia v2.49 CSF1R Bryony Thompson Gene: csf1r has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.49 CSF1R Bryony Thompson Classified gene: CSF1R as Green List (high evidence)
Hereditary Spastic Paraplegia v2.49 CSF1R Bryony Thompson Gene: csf1r has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.48 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 39853526; 37434390; 37349768; 32464672; 27680516
Phenotypes for gene: CSF1R were set to brain abnormalities, neurodegeneration, and dysosteosclerosis, MONDO:0032772; hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, MONDO:0009096
Review for gene: CSF1R was set to GREEN
Added comment: Both monoallelic and biallelic phenotypes feature spasticity.
Sources: Literature
Hereditary Spastic Paraplegia v2.47 COQ4 Bryony Thompson Marked gene: COQ4 as ready
Hereditary Spastic Paraplegia v2.47 COQ4 Bryony Thompson Gene: coq4 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.47 COQ4 Bryony Thompson Classified gene: COQ4 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.47 COQ4 Bryony Thompson Gene: coq4 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.46 COQ4 Bryony Thompson gene: COQ4 was added
gene: COQ4 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 42277908; 39776381; 39611533; 39367686; 38013626; 38014483; 36047608; 33704555
Phenotypes for gene: COQ4 were set to Mitochondrial disease, MONDO:0044970
Review for gene: COQ4 was set to GREEN
Added comment: Biallelic variants are associated with a spectrum of phenotypes, including predominant HSP to a complex neurological disorder with spasticity as a feature.
Sources: Literature
Hereditary Spastic Paraplegia v2.45 CLDN11 Bryony Thompson Marked gene: CLDN11 as ready
Hereditary Spastic Paraplegia v2.45 CLDN11 Bryony Thompson Gene: cldn11 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.45 CLDN11 Bryony Thompson Classified gene: CLDN11 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v2.45 CLDN11 Bryony Thompson Gene: cldn11 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.44 CLDN11 Bryony Thompson gene: CLDN11 was added
gene: CLDN11 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN11 were set to 33313762
Phenotypes for gene: CLDN11 were set to leukodystrophy, hypomyelinating, 22, MONDO:0025701
Review for gene: CLDN11 was set to AMBER
Added comment: PMID 33313762 reports 3 individuals from 3 families with de novo heterozygous stop‑loss CLDN11 variants presenting with early‑onset hypomyelinating leukodystrophy characterised by lower‑limb spasticity, dysarthria and hypermetropia. The lower‑limb spasticity aligns with the Hereditary Spastic Paraplegia panel’s focus on spasticity disorders. Functional evidence is limited to RNA expression and protein‑modelling of a C‑terminal extension.
Sources: Literature
Hereditary Spastic Paraplegia v2.43 CLCN2 Bryony Thompson Marked gene: CLCN2 as ready
Hereditary Spastic Paraplegia v2.43 CLCN2 Bryony Thompson Gene: clcn2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.43 CLCN2 Bryony Thompson Classified gene: CLCN2 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.43 CLCN2 Bryony Thompson Gene: clcn2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.42 CLCN2 Bryony Thompson gene: CLCN2 was added
gene: CLCN2 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 40199115; 38173802
Phenotypes for gene: CLCN2 were set to leukoencephalopathy with mild cerebellar ataxia and white matter edema, MONDO:0014292
Review for gene: CLCN2 was set to GREEN
Added comment: At least 5 individuals with spasticity as part of the phenotype, including 1 case with pure HSP.
Sources: Literature
Hereditary Spastic Paraplegia v2.41 CDO1 Bryony Thompson Marked gene: CDO1 as ready
Hereditary Spastic Paraplegia v2.41 CDO1 Bryony Thompson Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.41 CDO1 Bryony Thompson Classified gene: CDO1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v2.41 CDO1 Bryony Thompson Gene: cdo1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.40 CDO1 Bryony Thompson gene: CDO1 was added
gene: CDO1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CDO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDO1 were set to 39949058
Phenotypes for gene: CDO1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: CDO1 was set to AMBER
Added comment: PMID 39949058 reports 2 individuals with heterozygous de novo missense CDO1 variants with spasticity as part of the phenotype.
Sources: Literature
Hereditary Spastic Paraplegia v2.39 CAMTA1 Bryony Thompson Marked gene: CAMTA1 as ready
Hereditary Spastic Paraplegia v2.39 CAMTA1 Bryony Thompson Gene: camta1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.39 CAMTA1 Bryony Thompson Classified gene: CAMTA1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.39 CAMTA1 Bryony Thompson Gene: camta1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.38 CAMTA1 Bryony Thompson gene: CAMTA1 was added
gene: CAMTA1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMTA1 were set to 32157189; 33131045
Phenotypes for gene: CAMTA1 were set to cerebellar dysfunction with variable cognitive and behavioral abnormalities, MONDO:0013886
Review for gene: CAMTA1 was set to GREEN
Added comment: PMID 32157189 reports four individuals from four unrelated families presenting with a spastic ataxia syndrome characterised by lower‑limb spasticity, ataxia and variable neurodevelopmental features. PMID 33131045 reports additional cases
Sources: Literature
Hereditary Spastic Paraplegia v2.37 BORCS8 Bryony Thompson Marked gene: BORCS8 as ready
Hereditary Spastic Paraplegia v2.37 BORCS8 Bryony Thompson Gene: borcs8 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.37 BORCS8 Bryony Thompson Classified gene: BORCS8 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v2.37 BORCS8 Bryony Thompson Gene: borcs8 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v2.36 BORCS8 Bryony Thompson gene: BORCS8 was added
gene: BORCS8 was added to Hereditary Spastic Paraplegia. 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 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MONDO:0975837
Review for gene: BORCS8 was set to AMBER
Added comment: PMID 38128568 reports 4 individuals from 2 unrelated families with biallelic BORCS8 loss-of-function variants presenting with early‑infantile neurodevelopmental disorder characterised by global developmental delay, profound intellectual disability, hypotonia, limb spasticity, optic atrophy, hypomyelination and progressive neurodegeneration.
Sources: Literature
Hereditary Spastic Paraplegia v2.35 BORCS5 Bryony Thompson Marked gene: BORCS5 as ready
Hereditary Spastic Paraplegia v2.35 BORCS5 Bryony Thompson Gene: borcs5 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.35 BORCS5 Bryony Thompson Classified gene: BORCS5 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.35 BORCS5 Bryony Thompson Gene: borcs5 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.34 BORCS5 Bryony Thompson gene: BORCS5 was added
gene: BORCS5 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 42012897
Phenotypes for gene: BORCS5 were set to complex neurodevelopmental disorder, MONDO:0100038
Review for gene: BORCS5 was set to GREEN
Added comment: Autosomal recessive loss‑of‑function disease characterised by early‑onset neurodevelopmental disorder, progressive spasticity, seizures, optic atrophy and cerebral atrophy. Functional studies in zebrafish knock‑out models and patient‑derived fibroblasts, iPSC‑neurons show lysosomal dysfunction and rescue with wild‑type mRNA, supporting pathogenicity.
Sources: Literature
Hereditary Spastic Paraplegia v2.33 BLOC1S1 Bryony Thompson Marked gene: BLOC1S1 as ready
Hereditary Spastic Paraplegia v2.33 BLOC1S1 Bryony Thompson Gene: bloc1s1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.33 BLOC1S1 Bryony Thompson Classified gene: BLOC1S1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.33 BLOC1S1 Bryony Thompson Gene: bloc1s1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.32 BLOC1S1 Bryony Thompson gene: BLOC1S1 was added
gene: BLOC1S1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 41887224; 33875846
Phenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: BLOC1S1 was set to GREEN
Added comment: Biallelic BLOC1S1 loss‑of‑function variants presenting with early infantile‑onset hypomyelinating leukodystrophy, spastic tetraparesis, global developmental delay and epileptic encephalopathy. Functional assays in BLOC1S1‑KO HeLa cells and patient‑derived iPSC neurons demonstrate variant‑specific loss‑of‑function and failed rescue, supporting pathogenicity. The phenotype includes progressive spasticity.
Sources: Literature
Hereditary Spastic Paraplegia v2.31 BHLHE22 Bryony Thompson Marked gene: BHLHE22 as ready
Hereditary Spastic Paraplegia v2.31 BHLHE22 Bryony Thompson Gene: bhlhe22 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.31 BHLHE22 Bryony Thompson Classified gene: BHLHE22 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.31 BHLHE22 Bryony Thompson Gene: bhlhe22 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.30 BHLHE22 Bryony Thompson gene: BHLHE22 was added
gene: BHLHE22 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: BHLHE22 was set to GREEN
Added comment: BHLHE22 is associated with hereditary spastic paraplegia phenotypes.
Le2024 reports a single individual from one family with a de novo missense variant presenting with isolated adult‑onset lower‑limb spasticity; the evidence is insufficient for diagnostic‑grade classification. In addition, five families with a homozygous frameshift c.221_260del40 were reported, causing a recessive complicated hereditary spastic paraplegia with ACC, severe intellectual disability and spastic quadriplegia.
Sources: Literature
Hereditary Spastic Paraplegia v2.29 ATP6AP2 Bryony Thompson Marked gene: ATP6AP2 as ready
Hereditary Spastic Paraplegia v2.29 ATP6AP2 Bryony Thompson Gene: atp6ap2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.29 ATP6AP2 Bryony Thompson Classified gene: ATP6AP2 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.29 ATP6AP2 Bryony Thompson Gene: atp6ap2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.28 ATP6AP2 Bryony Thompson gene: ATP6AP2 was added
gene: ATP6AP2 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ATP6AP2 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: ATP6AP2 were set to 41131679; 35779466
Phenotypes for gene: ATP6AP2 were set to X-linked parkinsonism-spasticity syndrome, MONDO:0010482; syndromic X-linked intellectual disability Hedera type, MONDO:0010319
Review for gene: ATP6AP2 was set to GREEN
Added comment: ATP6AP2 encodes a V-ATPase assembly chaperone whose loss-of-function splice variants cause X-linked disorders featuring spasticity. PMID 41131679 reports four patients from three unrelated families with early‑onset neurodevelopmental impairment, epilepsy, microcephaly and spasticity, while PMID 35779466 describes an adult‑onset case of parkinsonism with spasticity.
Sources: Literature
Hereditary Spastic Paraplegia v2.27 ATP1A3 Bryony Thompson Marked gene: ATP1A3 as ready
Hereditary Spastic Paraplegia v2.27 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.27 ATP1A3 Bryony Thompson Classified gene: ATP1A3 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.27 ATP1A3 Bryony Thompson Gene: atp1a3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.26 ATP1A3 Bryony Thompson gene: ATP1A3 was added
gene: ATP1A3 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 40322871; 37043503
Phenotypes for gene: ATP1A3 were set to Syndromic disease, MONDO:0002254
Review for gene: ATP1A3 was set to GREEN
Added comment: PMID 40322871 reports one adult‑onset hereditary spastic paraplegia (HSP) case with a de novo heterozygous ATP1A3 variant; PMID 37043503 describes nine unrelated individuals from nine families with heterozygous ATP1A3 p.Pro775Leu variants who present with spasticity and developmental delay/intellectual disability, four of which are de novo confirmed.
Sources: Literature
Hereditary Spastic Paraplegia v2.25 ANO10 Bryony Thompson Marked gene: ANO10 as ready
Hereditary Spastic Paraplegia v2.25 ANO10 Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.25 ANO10 Bryony Thompson Classified gene: ANO10 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.25 ANO10 Bryony Thompson Gene: ano10 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.24 ANO10 Bryony Thompson gene: ANO10 was added
gene: ANO10 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO10 were set to 41357347; 40322871; 40128498; 37853290; 35110481; 30515630; 29482223
Phenotypes for gene: ANO10 were set to autosomal recessive spinocerebellar ataxia 10, MONDO:0013392
Review for gene: ANO10 was set to GREEN
Added comment: PMID 29482223, PMID 30515630, PMID 37853290, PMID 40128498, PMID 41357347, PMID 35110481, PMID 40322871 and PMID 35110481 report biallelic loss‑of‑function ANO10 variants presenting with autosomal recessive spastic cerebellar ataxia (SCAR10), characterised by progressive gait ataxia, cerebellar atrophy, spasticity/pyramidal signs and variable cognitive decline; additional features include pendular nystagmus (PMID 40128498) and adult‑onset disease.
Sources: Literature
Hereditary Spastic Paraplegia v2.23 AIFM1 Bryony Thompson Marked gene: AIFM1 as ready
Hereditary Spastic Paraplegia v2.23 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.23 AIFM1 Bryony Thompson Classified gene: AIFM1 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.23 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.22 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 31523922; 28842795
Phenotypes for gene: AIFM1 were set to X-linked hereditary sensory and autonomic neuropathy with hearing loss, MONDO:0010378; spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275
Review for gene: AIFM1 was set to GREEN
Added comment: Variants in AIFM1 cause X‑linked neuro‑skeletal and neuro‑degenerative phenotypes that can include progressive spasticity.
Sources: Literature
Hereditary Spastic Paraplegia v2.21 AFG2B Bryony Thompson Marked gene: AFG2B as ready
Hereditary Spastic Paraplegia v2.21 AFG2B Bryony Thompson Gene: afg2b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.21 AFG2B Bryony Thompson Classified gene: AFG2B as Green List (high evidence)
Hereditary Spastic Paraplegia v2.21 AFG2B Bryony Thompson Gene: afg2b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.20 AFG2B Bryony Thompson gene: AFG2B was added
gene: AFG2B was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: AFG2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG2B were set to 41375745; 41375745; 37902276; 34626583; 34626583
Phenotypes for gene: AFG2B were set to neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206
Review for gene: AFG2B was set to GREEN
Added comment: Biallelic loss‑of‑function or destabilising missense variants in AFG2B present with sensorineural hearing loss, spastic‑dystonic cerebral palsy, intellectual disability, epilepsy and/or microcephaly. Spasticity is a prominent feature. All families carry at least one qualifying loss‑of‑function or recurrent missense variant. Functional studies include immunofluorescence localisation, protein‑destabilising modelling and patient‑cell RNA‑seq, which support pathogenicity but do not fulfil rescue criteria.
Sources: Literature
Hereditary Spastic Paraplegia v2.19 AFG2A Bryony Thompson Marked gene: AFG2A as ready
Hereditary Spastic Paraplegia v2.19 AFG2A Bryony Thompson Gene: afg2a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.19 AFG2A Bryony Thompson Classified gene: AFG2A as Green List (high evidence)
Hereditary Spastic Paraplegia v2.19 AFG2A Bryony Thompson Gene: afg2a has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.18 AFG2A Bryony Thompson gene: AFG2A was added
gene: AFG2A was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: AFG2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG2A were set to 41933351
Phenotypes for gene: AFG2A were set to microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, MONDO:0014698
Review for gene: AFG2A was set to GREEN
Added comment: PMID 41933351 reports 51 individuals from 46 families with biallelic AFG2A (SPATA5) variants presenting with childhood‑onset spasticity, microcephaly, intellectual disability, sensorineural hearing loss and infantile epileptic spasms syndrome. Spasticity was identified in 60.87% of individuals. Functional studies show mitochondrial dysfunction in patient cells but no variant‑specific rescue or animal model.
Sources: Literature
Hereditary Spastic Paraplegia v2.17 ACTL6B Bryony Thompson Marked gene: ACTL6B as ready
Hereditary Spastic Paraplegia v2.17 ACTL6B Bryony Thompson Gene: actl6b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.17 ACTL6B Bryony Thompson Classified gene: ACTL6B as Green List (high evidence)
Hereditary Spastic Paraplegia v2.17 ACTL6B Bryony Thompson Gene: actl6b has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.16 ACTL6B Bryony Thompson gene: ACTL6B was added
gene: ACTL6B was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31031012
Phenotypes for gene: ACTL6B were set to developmental and epileptic encephalopathy, 76, MONDO:0032768
Review for gene: ACTL6B was set to GREEN
Added comment: PMID 31031012 reports 10 individuals from 10 families (9 independent) with biallelic loss-of-function ACTL6B variants presenting with a severe neurodevelopmental disorder characterised by global developmental delay, epileptic encephalopathy and early‑onset spasticity. Patient‑derived neuronal models and CRISPR ACTL6B knockout recapitulate dendritic loss rescued by wild‑type ACTL6B, providing strong functional validation.
Sources: Literature
Hereditary Spastic Paraplegia v2.15 ACP5 Bryony Thompson Marked gene: ACP5 as ready
Hereditary Spastic Paraplegia v2.15 ACP5 Bryony Thompson Gene: acp5 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.15 ACP5 Bryony Thompson Classified gene: ACP5 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.15 ACP5 Bryony Thompson Gene: acp5 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.14 ACP5 Bryony Thompson gene: ACP5 was added
gene: ACP5 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 39853520; 38883133; 38567175; 36376765; 32691099; 27718324
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MONDO:0011939
Review for gene: ACP5 was set to GREEN
Added comment: PMID 27718324, PMID 39853520, PMID 36376765 and PMID 38883133 report 12 individuals from 10 families with biallelic loss-of-function ACP5 variants presenting with Spondyloenchondrodysplasia with immune dysregulation, a multisystem syndrome characterised by childhood‑onset spastic paraparesis, skeletal dysplasia, short stature and autoimmune cytopenias.
Sources: Literature
Hereditary Spastic Paraplegia v2.13 ACO2 Bryony Thompson Marked gene: ACO2 as ready
Hereditary Spastic Paraplegia v2.13 ACO2 Bryony Thompson Gene: aco2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.13 ACO2 Bryony Thompson Classified gene: ACO2 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.13 ACO2 Bryony Thompson Gene: aco2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.12 ACO2 Bryony Thompson gene: ACO2 was added
gene: ACO2 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were set to 33500398; 32519519; 29577077; 29564393
Phenotypes for gene: ACO2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: ACO2 was set to GREEN
Added comment: PMID 32519519 reports four families with biallelic ACO2 loss‑of‑function variants, including a homozygous frameshift (c.2338_2339delCA) causing progressive spastic quadriplegia; PMID 33500398 describes one family with compound heterozygous missense variants presenting as complex hereditary spastic paraplegia with episodic visual loss and intellectual disability; PMID 29577077 presents a consanguineous Arab‑Bedouin family with a homozygous missense p.Phe414Val causing complicated hereditary spastic paraplegia, microcephaly and intellectual disability; PMID 29564393 reports one family with a missense and splice variant causing progressive spastic paraplegia, severe optic atrophy and mild cognitive impairment. In total, seven unrelated families (seven independent) with qualifying biallelic loss‑of‑function or splice variants have been described, all showing reduced aconitase activity in patient cells, supporting a loss‑of‑function mechanism.
Sources: Literature
Hereditary Spastic Paraplegia v2.11 ACBD6 Bryony Thompson Marked gene: ACBD6 as ready
Hereditary Spastic Paraplegia v2.11 ACBD6 Bryony Thompson Gene: acbd6 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.11 ACBD6 Bryony Thompson Classified gene: ACBD6 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.11 ACBD6 Bryony Thompson Gene: acbd6 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.10 ACBD6 Bryony Thompson gene: ACBD6 was added
gene: ACBD6 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 37951597
Phenotypes for gene: ACBD6 were set to neurodevelopmental disorder with progressive movement abnormalities, MONDO:0968976
Review for gene: ACBD6 was set to GREEN
Added comment: PMID 37951597 reports 45 individuals from 28 families (20 independent) with autosomal recessive ACBD6 loss‑of‑function variants presenting with a neurodevelopmental syndrome characterised by global developmental delay, intellectual disability, expressive language impairment, spasticity, hypertonia, cerebellar ataxia, dystonia, tremor, parkinsonism, epilepsy and facial dysmorphism. Lower limb spasticity was present in 27/35 (77%) individuals.
Sources: Literature
Hereditary Spastic Paraplegia v2.9 ABCC9 Bryony Thompson Marked gene: ABCC9 as ready
Hereditary Spastic Paraplegia v2.9 ABCC9 Bryony Thompson Gene: abcc9 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.9 ABCC9 Bryony Thompson Classified gene: ABCC9 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.9 ABCC9 Bryony Thompson Gene: abcc9 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.8 ABCC9 Bryony Thompson gene: ABCC9 was added
gene: ABCC9 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC9 were set to 38217872
Phenotypes for gene: ABCC9 were set to intellectual disability and myopathy syndrome, MONDO:0859224
Review for gene: ABCC9 was set to GREEN
Added comment: PMID 38217872 reports 9 individuals from 7 families with biallelic loss-of-function ABCC9 variants presenting with developmental delay, intellectual disability, spasticity, microcephaly, seizures, fatigability and muscle weakness. Spasticity was present in 7 of the 9 individuals.
Sources: Literature
Clefting disorders v1.78 EFTUD2 Zornitza Stark Marked gene: EFTUD2 as ready
Clefting disorders v1.78 EFTUD2 Zornitza Stark Gene: eftud2 has been classified as Green List (High Evidence).
Clefting disorders v1.78 EFTUD2 Zornitza Stark Phenotypes for gene: EFTUD2 were changed from MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA to Mandibulofacial dysostosis, Guion-Almeida type MIM#610536
Clefting disorders v1.77 EFTUD2 Zornitza Stark reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type MIM#610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.77 DYNC2LI1 Zornitza Stark Marked gene: DYNC2LI1 as ready
Clefting disorders v1.77 DYNC2LI1 Zornitza Stark Gene: dync2li1 has been classified as Green List (High Evidence).
Clefting disorders v1.77 DYNC2LI1 Zornitza Stark Phenotypes for gene: DYNC2LI1 were changed from SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)
Clefting disorders v1.76 DYNC2LI1 Zornitza Stark Publications for gene: DYNC2LI1 were set to
Clefting disorders v1.75 DYNC2LI1 Zornitza Stark reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26130459, 28857138; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.75 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Clefting disorders v1.75 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence).
Clefting disorders v1.75 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Clefting disorders v1.74 DYNC2H1 Zornitza Stark Publications for gene: DYNC2H1 were set to
Clefting disorders v1.73 DYNC2H1 Zornitza Stark reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39361243, 37932364; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v2.52 AKAP4 Zornitza Stark Marked gene: AKAP4 as ready
Infertility and Recurrent Pregnancy Loss v2.52 AKAP4 Zornitza Stark Gene: akap4 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.52 Zornitza Stark Copied gene AKAP4 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.52 AKAP4 Zornitza Stark gene: AKAP4 was added
gene: AKAP4 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: AKAP4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AKAP4 were set to 42653232; 38050179; 34415320; 34409659
Phenotypes for gene: AKAP4 were set to Infertility disorder, MONDO:0005047, AKAP4-related
Mendeliome v2.640 AKAP4 Zornitza Stark Marked gene: AKAP4 as ready
Mendeliome v2.640 AKAP4 Zornitza Stark Gene: akap4 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.640 AKAP4 Zornitza Stark Classified gene: AKAP4 as Amber List (moderate evidence)
Mendeliome v2.640 AKAP4 Zornitza Stark Gene: akap4 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.639 AKAP4 Zornitza Stark gene: AKAP4 was added
gene: AKAP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AKAP4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AKAP4 were set to 42653232; 38050179; 34415320; 34409659
Phenotypes for gene: AKAP4 were set to Infertility disorder, MONDO:0005047, AKAP4-related
Review for gene: AKAP4 was set to AMBER
Added comment: PMID 38050179 reports two brothers from a single family with non‑obstructive azoospermia (NOA) caused by a hemizygous AKAP4 p.R429H missense variant; a knock‑in mouse recapitulates severe male subfertility. PMID 34409659 identifies a hemizygous AKAP4 p.S152P missense variant in one male with asthenozoospermia from a single family; cellular assays show loss of mature AKAP4 protein and impaired PKA/PI3K signalling. PMID 34415320 describes three unrelated Chinese men with multiple morphological abnormalities of the sperm flagella (MMAF) carrying the same hemizygous AKAP4 p.Arg429Cys missense variant; patient sperm shows reduced AKAP4 protein and disrupted interaction with QRICH2.
Sources: Literature
Clefting disorders v1.73 EBP Zornitza Stark Marked gene: EBP as ready
Clefting disorders v1.73 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Clefting disorders v1.73 EBP Zornitza Stark Phenotypes for gene: EBP were changed from MEND SYNDROME; MEND to Chondrodysplasia punctata, X-linked dominant, MIM# 302960; MEND syndrome, MIM# 300960
Clefting disorders v1.72 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v1.71 EBP Zornitza Stark Classified gene: EBP as Red List (low evidence)
Clefting disorders v1.71 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Clefting disorders v1.70 EBP Zornitza Stark reviewed gene: EBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960, MEND syndrome, MIM# 300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v1.70 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Clefting disorders v1.70 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Clefting disorders v1.70 DVL3 Zornitza Stark Phenotypes for gene: DVL3 were changed from Robinow syndrome, autosomal dominant 3, 616894 to Robinow syndrome, autosomal dominant 3, MIM#616894
Clefting disorders v1.69 DVL3 Zornitza Stark Publications for gene: DVL3 were set to 26924530; 29575616
Clefting disorders v1.68 DVL3 Zornitza Stark reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25577943; Phenotypes: Robinow syndrome, autosomal dominant 3-MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.68 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Clefting disorders v1.68 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Clefting disorders v1.68 DVL1 Zornitza Stark Phenotypes for gene: DVL1 were changed from DRS2; ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Clefting disorders v1.67 DVL1 Zornitza Stark Publications for gene: DVL1 were set to
Clefting disorders v1.66 DVL1 Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Clefting disorders v1.65 DVL1 Zornitza Stark reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25577943; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Clefting disorders v1.65 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Clefting disorders v1.65 DOCK6 Zornitza Stark Gene: dock6 has been classified as Red List (Low Evidence).
Clefting disorders v1.65 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from ADAMS-OLIVER SYNDROME to Adams-Oliver syndrome 2 MIM#614219
Clefting disorders v1.64 DOCK6 Zornitza Stark Classified gene: DOCK6 as Red List (low evidence)
Clefting disorders v1.64 DOCK6 Zornitza Stark Gene: dock6 has been classified as Red List (Low Evidence).
Clefting disorders v1.63 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2 MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.63 DLL4 Zornitza Stark Marked gene: DLL4 as ready
Clefting disorders v1.63 DLL4 Zornitza Stark Gene: dll4 has been classified as Red List (Low Evidence).
Clefting disorders v1.63 DLL4 Zornitza Stark Phenotypes for gene: DLL4 were changed from ADAMS-OLIVER SYNDROME to Adams-Oliver syndrome 6, MIM# 616589
Clefting disorders v1.62 DLL4 Zornitza Stark Classified gene: DLL4 as Red List (low evidence)
Clefting disorders v1.62 DLL4 Zornitza Stark Gene: dll4 has been classified as Red List (Low Evidence).
Clefting disorders v1.61 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 6, MIM# 616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.61 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Clefting disorders v1.61 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Clefting disorders v1.61 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from SMITH-LEMLI-OPITZ SYNDROME; SLOS to Smith-Lemli-Opitz syndrome, MIM# 270400
Clefting disorders v1.60 DHCR7 Zornitza Stark Publications for gene: DHCR7 were set to
Clefting disorders v1.59 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301322; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.59 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Clefting disorders v1.59 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Clefting disorders v1.59 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE to Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150
Clefting disorders v1.58 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v1.57 COL11A2 Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Otospondylomegaepiphyseal dysplasia, autosomal dominant MIM#184840, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.638 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106 to Developmental and epileptic encephalopathy 42A, MIM# 617106; Developmental and epileptic encephalopathy 42B, MIM#621692; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, with or without progressive cerebellar ataxia, MIM#141500; Spinocerebellar ataxia 6, MIM# 183086
Mendeliome v2.637 CACNA1A Zornitza Stark edited their review of gene: CACNA1A: Changed phenotypes: Developmental and epileptic encephalopathy 42A, MIM# 617106, Developmental and epileptic encephalopathy 42B, MIM#621692, Episodic ataxia, type 2, MIM# 108500, Migraine, familial hemiplegic, 1, with or without progressive cerebellar ataxia, MIM#141500, Spinocerebellar ataxia 6, MIM# 183086
Mendeliome v2.637 CACNA1A Zornitza Stark edited their review of gene: CACNA1A: Changed phenotypes: Developmental and epileptic encephalopathy 42A, MIM# 617106, Developmental and epileptic encephalopathy 42B, MIM#621692
Genetic Epilepsy v2.49 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2 MIM#108500 to Developmental and epileptic encephalopathy 42A, MIM# 617106; Developmental and epileptic encephalopathy 42B, MIM#621692
Genetic Epilepsy v2.48 CACNA1A Zornitza Stark edited their review of gene: CACNA1A: Changed phenotypes: Developmental and epileptic encephalopathy 42A, MIM# 617106, Developmental and epileptic encephalopathy 42B, MIM#621692
Ataxia v2.267 ATG12 Zornitza Stark Phenotypes for gene: ATG12 were changed from ATG12-related neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710
Ataxia v2.266 ATG12 Zornitza Stark reviewed gene: ATG12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.162 ATG12 Zornitza Stark Phenotypes for gene: ATG12 were changed from ATG12-related neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710
Intellectual disability syndromic and non-syndromic v2.161 ATG12 Zornitza Stark reviewed gene: ATG12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v2.48 ATG12 Zornitza Stark Phenotypes for gene: ATG12 were changed from ATG12-related neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710
Genetic Epilepsy v2.47 ATG12 Zornitza Stark reviewed gene: ATG12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.637 ATG12 Zornitza Stark Phenotypes for gene: ATG12 were changed from ATG12-related neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710
Mendeliome v2.636 ATG12 Zornitza Stark reviewed gene: ATG12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v2.9 ATG12 Zornitza Stark Phenotypes for gene: ATG12 were changed from ATG12-related neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710
Cerebellar and Pontocerebellar Hypoplasia v2.8 ATG12 Zornitza Stark reviewed gene: ATG12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v2.1 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Cataract v2.1 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Cataract v2.0 TKT Zornitza Stark changed review comment from: Cataracts are reported as part of this condition.
Sources: Literature; to: Cataracts are reported as part of this condition. However, only 3 families reported, two with the same variant.
Sources: Literature
Cataract v2.0 TKT Zornitza Stark edited their review of gene: TKT: Changed rating: AMBER; Changed phenotypes: Short stature, developmental delay, and congenital heart defects, MIM# 617044
Hereditary Spastic Paraplegia v2.7 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Hereditary Spastic Paraplegia v2.7 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.7 AARS2 Bryony Thompson Classified gene: AARS2 as Green List (high evidence)
Hereditary Spastic Paraplegia v2.7 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v2.6 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Hereditary Spastic Paraplegia. Sources: Literature
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 35084689; 34285876; 31388113; 30272204; 28322004; 27749956
Phenotypes for gene: AARS2 were set to Mitochondrial disease, MONDO:0044970; hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, MONDO:0009096; ovarioleukodystrophy, MONDO:0020506
Review for gene: AARS2 was set to GREEN
Added comment: Adult-onset hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), an autosomal recessive loss‑of‑function AARS2 disease, can present with spastic paraparesis, cognitive decline and characteristic MRI changes.
Sources: Literature
Congenital Myasthenia v2.6 PREPL Bryony Thompson Publications for gene: PREPL were set to 29483676; 28726805; 24610330; 27472506
Congenital Myasthenia v2.5 PREPL Bryony Thompson Classified gene: PREPL as Green List (high evidence)
Congenital Myasthenia v2.5 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Congenital Myasthenia v2.4 PREPL Bryony Thompson reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 39078710, 34693706, 33471587, 33233562, 32707643, 32218803, 31985178, 29483676; Phenotypes: myasthenic syndrome, congenital, 22, MONDO:0044299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Myasthenia v2.4 DES Bryony Thompson Marked gene: DES as ready
Congenital Myasthenia v2.4 DES Bryony Thompson Gene: des has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v2.4 DES Bryony Thompson Classified gene: DES as Amber List (moderate evidence)
Congenital Myasthenia v2.4 DES Bryony Thompson Gene: des has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v2.3 DES Bryony Thompson gene: DES was added
gene: DES was added to Congenital Myasthenia. Sources: Literature
Mode of inheritance for gene: DES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DES were set to 37721175; 29395675
Phenotypes for gene: DES were set to congenital myasthenic syndrome MONDO:0018940
Review for gene: DES was set to AMBER
Added comment: PMID 29395675 reports two individuals from one family (cousins) with a homozygous truncating DES variant c.345dupC presenting with fatigable weakness, ocular involvement and cardiomyopathy; PMID 37721175 reports three unrelated individuals from three families with a homozygous intronic splice‑site DES variant c.1023+5G>A presenting with limb‑girdle weakness, oculo‑bulbar involvement, elevated CK and a neuromuscular‑junction defect. Both studies describe a recessive congenital myasthenic syndrome caused by loss‑of‑function DES variants, a monogenic disorder amenable to targeted therapies, aligning with the Congenital Myasthenia panel’s focus on fatigable weakness and hypotonia.
Sources: Literature
Congenital Myasthenia v2.2 TEFM Bryony Thompson Marked gene: TEFM as ready
Congenital Myasthenia v2.2 TEFM Bryony Thompson Gene: tefm has been classified as Green List (High Evidence).
Congenital Myasthenia v2.2 TEFM Bryony Thompson Classified gene: TEFM as Green List (high evidence)
Congenital Myasthenia v2.2 TEFM Bryony Thompson Gene: tefm has been classified as Green List (High Evidence).
Congenital Myasthenia v2.1 TEFM Bryony Thompson gene: TEFM was added
gene: TEFM was added to Congenital Myasthenia. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 37721175; 36823193
Phenotypes for gene: TEFM were set to combined oxidative phosphorylation deficiency 58, MONDO:0957537
Review for gene: TEFM was set to GREEN
Added comment: PMID 36823193 reports seven individuals from five unrelated families with biallelic TEFM loss‑of‑function variants and a congenital myasthenic‑syndrome‑like mitochondrial disease; PMID 37721175 likely reports the same two affected siblings from an Indian family homozygous for the same p.Pro157Ala variant. Across five families, the phenotype includes fatigable muscle weakness, ptosis, ophthalmoparesis, limb‑girdle weakness and variable neurological features such as epilepsy and ataxia. Functional studies demonstrate reduced TEFM protein, impaired mitochondrial transcription, decreased complex I activity and neuromuscular junction defects in zebrafish, supporting a loss‑of‑function mechanism.
Sources: Literature
Ataxia v2.266 TUBB2A Bryony Thompson Publications for gene: TUBB2A were set to 29547997; 32203252
Ataxia v2.265 TUBB2A Bryony Thompson Classified gene: TUBB2A as Amber List (moderate evidence)
Ataxia v2.265 TUBB2A Bryony Thompson Gene: tubb2a has been classified as Amber List (Moderate Evidence).
Ataxia v2.264 TUBB2A Bryony Thompson edited their review of gene: TUBB2A: Added comment: PMID 29547997 reports a de novo heterozygous missense c.1249G>A (p.D417N) in a male proband with progressive spastic ataxia, peripheral sensorimotor neuropathy, cerebellar and optic atrophy, and mild intellectual disability – a distinct dominant‑negative mechanism. PMID 41152456 adds two de novo heterozygous missense TUBB2A variants (c.5G>A and c.1234G>A) in two unrelated families with childhood‑onset ataxia, developmental delay, hypotonia and corpus callosum thinning. PMID 42050746 describes an additional individual with a heterozygous missense c.620T>C (p.Leu207Pro) presenting with ataxia, intellectual disability, epilepsy and cortical malformations, but parental testing was unavailable and the variant does not meet the qualifying‑variant gate.; Changed rating: AMBER; Changed publications: 42050746, 41152456, 29547997; Changed phenotypes: tubulinopathy, MONDO:0100153
Ataxia v2.264 MME Bryony Thompson Marked gene: MME as ready
Ataxia v2.264 MME Bryony Thompson Gene: mme has been classified as Amber List (Moderate Evidence).
Ataxia v2.264 MME Bryony Thompson Publications for gene: MME were set to 27583304
Ataxia v2.263 MME Bryony Thompson Phenotypes for gene: MME were changed from ?Spinocerebellar ataxia type 43, 617018 to Neurodevelopmental disorder, MONDO:0700092; spinocerebellar ataxia 43, MONDO:0014867
Ataxia v2.262 MME Bryony Thompson Classified gene: MME as Amber List (moderate evidence)
Ataxia v2.262 MME Bryony Thompson Gene: mme has been classified as Amber List (Moderate Evidence).
Ataxia v2.261 MME Bryony Thompson edited their review of gene: MME: Added comment: Spinocerebellar ataxia type 43 (SCA43) – PMID 27583304 reports a Belgian family (7 affected individuals) with a heterozygous missense p.C143Y variant segregating across 22 family members. PMID 42132968 adds an independent family (4 affected individuals) carrying a heterozygous missense p.Asn689Lys variant that segregates with disease in two sisters and the proband’s son. Both papers expand the phenotypic spectrum of SCA43 to include early hyperkinetic movement disorder and axonal neuropathy.
Congenital cerebellar dysplasia – PMID 38681507 describes a sporadic case (1 patient) with a monoallelic nonsense MME variant c.838G>T, associated with congenital cerebellar dysplasia and ataxia. No segregation or functional data were provided.; Changed rating: AMBER; Changed publications: 42132968, 38681507, 27583304; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, spinocerebellar ataxia 43, MONDO:0014867
Ataxia v2.261 CAPN1 Bryony Thompson Publications for gene: CAPN1 were set to 27320912; 29678961; 30572172; 31023339; 31104286
Ataxia v2.260 CAPN1 Bryony Thompson edited their review of gene: CAPN1: Added comment: Recent literature expands the CAPN1 spastic‑ataxia association.; Changed publications: 41357347, 40844737, 37468791, 36530930, 35936610, 33486633, 32860341, 31355030, 31104286, 31023339, 30198554, 29678961, 29379883, 28321562, 27320912; Changed phenotypes: autosomal recessive spastic paraplegia type 76, MONDO:0014827
Ataxia v2.260 ZFYVE26 Bryony Thompson Marked gene: ZFYVE26 as ready
Ataxia v2.260 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Ataxia v2.260 ZFYVE26 Bryony Thompson Publications for gene: ZFYVE26 were set to 24367272; 18394578
Ataxia v2.259 ZFYVE26 Bryony Thompson Classified gene: ZFYVE26 as Green List (high evidence)
Ataxia v2.259 ZFYVE26 Bryony Thompson Gene: zfyve26 has been classified as Green List (High Evidence).
Ataxia v2.258 ZFYVE26 Bryony Thompson edited their review of gene: ZFYVE26: Added comment: Spastic ataxia can be a feature of the phenotype.; Changed rating: GREEN; Changed publications: 41357347, 39304850, 38783254, 38587696, 37510308, 36315648, 35937475, 32999401; Changed phenotypes: hereditary spastic paraplegia 15, MONDO:0010044
Ataxia v2.258 SYNGAP1 Bryony Thompson Publications for gene: SYNGAP1 were set to 26989088
Ataxia v2.257 SYNGAP1 Bryony Thompson Classified gene: SYNGAP1 as Green List (high evidence)
Ataxia v2.257 SYNGAP1 Bryony Thompson Gene: syngap1 has been classified as Green List (High Evidence).
Ataxia v2.256 SYNGAP1 Bryony Thompson reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38470175, 37467311, 34653234, 30541864, 30181777; Phenotypes: SYNGAP1-related developmental and epileptic encephalopathy, MONDO:0034099, complex neurodevelopmental disorder, MONDO:0100038, intellectual disability, autosomal dominant 5, MONDO:0012960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v2.256 PRPS1 Bryony Thompson Marked gene: PRPS1 as ready
Ataxia v2.256 PRPS1 Bryony Thompson Gene: prps1 has been classified as Green List (High Evidence).
Ataxia v2.256 PRPS1 Bryony Thompson Publications for gene: PRPS1 were set to 33898739; 28967191
Ataxia v2.255 PRPS1 Bryony Thompson Classified gene: PRPS1 as Green List (high evidence)
Ataxia v2.255 PRPS1 Bryony Thompson Gene: prps1 has been classified as Green List (High Evidence).
Ataxia v2.254 PRPS1 Bryony Thompson reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41787648, 37670898, 33898739, 33294372; Phenotypes: Arts syndrome, MONDO:0010533, Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia v2.254 PRKCG Bryony Thompson Classified gene: PRKCG as Green List (high evidence)
Ataxia v2.254 PRKCG Bryony Thompson Gene: prkcg has been classified as Green List (High Evidence).
Ataxia v2.253 PRKCG Bryony Thompson reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 38844245, 38587696, 37301203, 36949783, 33739604, 29603387, 29482223, 29053796, 27528516; Phenotypes: spinocerebellar ataxia type 14, MONDO:0011540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v2.253 CAPN1 Bryony Thompson Classified gene: CAPN1 as Green List (high evidence)
Ataxia v2.253 CAPN1 Bryony Thompson Gene: capn1 has been classified as Green List (High Evidence).
Ataxia v2.252 ACBD5 Bryony Thompson Classified gene: ACBD5 as Green List (high evidence)
Ataxia v2.252 ACBD5 Bryony Thompson Gene: acbd5 has been classified as Green List (High Evidence).
Ataxia v2.251 ACBD5 Bryony Thompson edited their review of gene: ACBD5: Changed rating: GREEN
Ataxia v2.251 ACBD5 Bryony Thompson Publications for gene: ACBD5 were set to 27799409; 23105016
Ataxia v2.250 ACBD5 Bryony Thompson edited their review of gene: ACBD5: Added comment: Now 3 families with ataxia as a feature.; Changed publications: 37789430, 27799409; Changed phenotypes: acyl-CoA binding domain containing protein 5 deficiency, MONDO:0100112
Ataxia v2.250 SEPSECS Bryony Thompson Marked gene: SEPSECS as ready
Ataxia v2.250 SEPSECS Bryony Thompson Gene: sepsecs has been classified as Green List (High Evidence).
Ataxia v2.250 SEPSECS Bryony Thompson Publications for gene: SEPSECS were set to 29464431
Ataxia v2.249 SEPSECS Bryony Thompson Classified gene: SEPSECS as Green List (high evidence)
Ataxia v2.249 SEPSECS Bryony Thompson Gene: sepsecs has been classified as Green List (High Evidence).
Ataxia v2.248 SEPSECS Bryony Thompson edited their review of gene: SEPSECS: Added comment: More cases with ataxia as a feature have been reported.; Changed rating: GREEN; Changed publications: 41825724, 40017499, 36085396, 35637137, 35155316, 35091508, 29464431, 27576344, 26888482, 26115735; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, pontocerebellar hypoplasia type 2D, MONDO:0013438, progressive cerebello-cerebral atrophy, MONDO:0016589
Ataxia v2.248 RARS2 Bryony Thompson Classified gene: RARS2 as Green List (high evidence)
Ataxia v2.248 RARS2 Bryony Thompson Gene: rars2 has been classified as Green List (High Evidence).
Ataxia v2.247 RARS2 Bryony Thompson edited their review of gene: RARS2: Added comment: More cases reported with ataxia as a feature.; Changed rating: GREEN; Changed publications: 41825724, 38733322, 38622473, 37344844, 34600502, 32571458, 31429931, 30006346, 27061686, 26083569, 25809939; Changed phenotypes: pontocerebellar hypoplasia type 6, MONDO:0012683
Ataxia v2.247 PCDH12 Bryony Thompson Publications for gene: PCDH12 were set to 30459466; 35864621; 33527719; 30459466
Ataxia v2.246 PCDH12 Bryony Thompson Publications for gene: PCDH12 were set to 30459466
Ataxia v2.245 PCDH12 Bryony Thompson Classified gene: PCDH12 as Green List (high evidence)
Ataxia v2.245 PCDH12 Bryony Thompson Gene: pcdh12 has been classified as Green List (High Evidence).
Ataxia v2.244 PCDH12 Bryony Thompson edited their review of gene: PCDH12: Added comment: Ataxia has been reported in >3 cases with biallelic variants.; Changed rating: GREEN; Changed publications: 35864621, 33527719, 30459466; Changed phenotypes: diencephalic-mesencephalic junction dysplasia syndrome 1, MONDO:0009625
Ataxia v2.244 EXOSC3 Bryony Thompson Classified gene: EXOSC3 as Green List (high evidence)
Ataxia v2.244 EXOSC3 Bryony Thompson Gene: exosc3 has been classified as Green List (High Evidence).
Ataxia v2.243 EXOSC3 Bryony Thompson edited their review of gene: EXOSC3: Added comment: Ataxia has been reported as a feature of the condition; Changed rating: GREEN; Changed publications: 41825724, 38681507, 38622473, 36233161, 35990027, 35852507, 34085948, 33111306, 32527837, 27146152; Changed phenotypes: pontocerebellar hypoplasia type 1B, MONDO:0013853
Ataxia v2.243 ATP7B Bryony Thompson Marked gene: ATP7B as ready
Ataxia v2.243 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Ataxia v2.243 ATP7B Bryony Thompson Classified gene: ATP7B as Green List (high evidence)
Ataxia v2.243 ATP7B Bryony Thompson Gene: atp7b has been classified as Green List (High Evidence).
Ataxia v2.242 ATP7B Bryony Thompson reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 40616145, 32539308; Phenotypes: Wilson disease, MONDO:0010200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.242 ARMC9 Bryony Thompson Classified gene: ARMC9 as Green List (high evidence)
Ataxia v2.242 ARMC9 Bryony Thompson Gene: armc9 has been classified as Green List (High Evidence).
Ataxia v2.241 ARMC9 Bryony Thompson reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 40448720, 35186037, 32453716, 29159890, 28625504; Phenotypes: Joubert syndrome 30, MONDO:0033308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.241 ZBTB11 Bryony Thompson Marked gene: ZBTB11 as ready
Ataxia v2.241 ZBTB11 Bryony Thompson Gene: zbtb11 has been classified as Green List (High Evidence).
Ataxia v2.241 ZBTB11 Bryony Thompson Classified gene: ZBTB11 as Green List (high evidence)
Ataxia v2.241 ZBTB11 Bryony Thompson Gene: zbtb11 has been classified as Green List (High Evidence).
Ataxia v2.240 ZBTB11 Bryony Thompson gene: ZBTB11 was added
gene: ZBTB11 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 38899514
Phenotypes for gene: ZBTB11 were set to intellectual developmental disorder, autosomal recessive 69, MONDO:0032715
Review for gene: ZBTB11 was set to GREEN
Added comment: PMID 38899514 reports 29 individuals from 17 families (16 independent) with biallelic ZBTB11 variants presenting with neurodevelopmental delay, intellectual disability and progressive complex movement disorders, including ataxia in 12 of 20 examined patients.
Sources: Literature
Ataxia v2.239 YARS1 Bryony Thompson Marked gene: YARS1 as ready
Ataxia v2.239 YARS1 Bryony Thompson Gene: yars1 has been classified as Green List (High Evidence).
Ataxia v2.239 YARS1 Bryony Thompson Classified gene: YARS1 as Green List (high evidence)
Ataxia v2.239 YARS1 Bryony Thompson Gene: yars1 has been classified as Green List (High Evidence).
Ataxia v2.238 YARS1 Bryony Thompson gene: YARS1 was added
gene: YARS1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: YARS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YARS1 were set to 34536092
Phenotypes for gene: YARS1 were set to neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375
Review for gene: YARS1 was set to GREEN
Added comment: PMID 34536092 reports 12 individuals from 6 families with biallelic YARS1 p.Arg367Trp variants presenting with developmental delay, microcephaly, ataxia, muscular hypotonia, chronic microcytic anemia, hepatomegaly and hypothyroidism.
Sources: Literature
Ataxia v2.237 XPA Bryony Thompson Marked gene: XPA as ready
Ataxia v2.237 XPA Bryony Thompson Gene: xpa has been classified as Green List (High Evidence).
Ataxia v2.237 XPA Bryony Thompson Classified gene: XPA as Green List (high evidence)
Ataxia v2.237 XPA Bryony Thompson Gene: xpa has been classified as Green List (High Evidence).
Ataxia v2.236 XPA Bryony Thompson gene: XPA was added
gene: XPA was added to Ataxia. Sources: Literature
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 38040034; 36893274; 35699229; 31478152; 30077970
Phenotypes for gene: XPA were set to xeroderma pigmentosum group A, MONDO:0010210
Review for gene: XPA was set to GREEN
Added comment: Biallelic XPA variants cause xeroderma pigmentosum group A. Ataxia can be a feature of the condition.
Sources: Literature
Ataxia v2.235 WIPI2 Bryony Thompson Marked gene: WIPI2 as ready
Ataxia v2.235 WIPI2 Bryony Thompson Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Ataxia v2.235 WIPI2 Bryony Thompson Classified gene: WIPI2 as Amber List (moderate evidence)
Ataxia v2.235 WIPI2 Bryony Thompson Gene: wipi2 has been classified as Amber List (Moderate Evidence).
Ataxia v2.234 WIPI2 Bryony Thompson gene: WIPI2 was added
gene: WIPI2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 34557665
Phenotypes for gene: WIPI2 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: WIPI2 was set to AMBER
Added comment: PMID 34557665 reports 3 individuals from 2 consanguineous families with biallelic missense WIPI2 variants with ataxia as a feature of the phenotype.
Sources: Literature
Ataxia v2.233 WDR26 Bryony Thompson Marked gene: WDR26 as ready
Ataxia v2.233 WDR26 Bryony Thompson Gene: wdr26 has been classified as Amber List (Moderate Evidence).
Ataxia v2.233 WDR26 Bryony Thompson Classified gene: WDR26 as Amber List (moderate evidence)
Ataxia v2.233 WDR26 Bryony Thompson Gene: wdr26 has been classified as Amber List (Moderate Evidence).
Ataxia v2.232 WDR26 Bryony Thompson gene: WDR26 was added
gene: WDR26 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR26 were set to 33506510
Phenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome, MONDO:0054636
Review for gene: WDR26 was set to AMBER
Added comment: PMID 33506510 reports six individuals from six families with de novo heterozygous loss-of-function or missense variants in WDR26 presenting with Skraban-Deardorff syndrome. Ataxia was present in three of the individuals.
Sources: Literature
Ataxia v2.231 TRPM3 Bryony Thompson Marked gene: TRPM3 as ready
Ataxia v2.231 TRPM3 Bryony Thompson Gene: trpm3 has been classified as Green List (High Evidence).
Ataxia v2.231 TRPM3 Bryony Thompson Classified gene: TRPM3 as Green List (high evidence)
Ataxia v2.231 TRPM3 Bryony Thompson Gene: trpm3 has been classified as Green List (High Evidence).
Ataxia v2.230 TRPM3 Bryony Thompson gene: TRPM3 was added
gene: TRPM3 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TRPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM3 were set to 36648066
Phenotypes for gene: TRPM3 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: TRPM3 was set to GREEN
Added comment: PMID 36648066 reports 10 individuals from 9 families with heterozygous de novo (or one inherited) gain-of-function TRPM3 missense variants presenting with a neurodevelopmental disorder. Ataxia is present in ~50% of cases. Functional assays in HEK293T cells show increased basal Ca2+ influx and enhanced response to pregnenolone sulfate reversible by primidone.
Sources: Literature
Ataxia v2.229 TPK1 Bryony Thompson Marked gene: TPK1 as ready
Ataxia v2.229 TPK1 Bryony Thompson Gene: tpk1 has been classified as Green List (High Evidence).
Ataxia v2.229 TPK1 Bryony Thompson Classified gene: TPK1 as Green List (high evidence)
Ataxia v2.229 TPK1 Bryony Thompson Gene: tpk1 has been classified as Green List (High Evidence).
Ataxia v2.228 TPK1 Bryony Thompson gene: TPK1 was added
gene: TPK1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPK1 were set to 40186230; 39140381; 38501011; 37622082; 36175994; 32361878
Phenotypes for gene: TPK1 were set to childhood encephalopathy due to thiamine pyrophosphokinase deficiency, MONDO:0013761
Review for gene: TPK1 was set to GREEN
Added comment: The disorder is treatable with thiamine supplementation and presents with ataxia as a prominent sign.
Sources: Literature
Ataxia v2.227 TOMM70 Bryony Thompson Marked gene: TOMM70 as ready
Ataxia v2.227 TOMM70 Bryony Thompson Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Ataxia v2.227 TOMM70 Bryony Thompson Classified gene: TOMM70 as Amber List (moderate evidence)
Ataxia v2.227 TOMM70 Bryony Thompson Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Ataxia v2.226 TOMM70 Bryony Thompson gene: TOMM70 was added
gene: TOMM70 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TOMM70 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOMM70 were set to 32356556
Phenotypes for gene: TOMM70 were set to leukodystrophy, MONDO:0019046
Review for gene: TOMM70 was set to AMBER
Added comment: PMID 32356556 reports 2 individuals from 2 families with heterozygous de novo loss-of-function missense variants (p.Thr607Ile and p.Ile554Phe) presenting with developmental ataxia, hypotonia, hyperreflexia and white‑matter abnormalities. Drosophila rescue assays show that wild‑type TOMM70 rescues Tom70 null lethality whereas the patient alleles do not, demonstrating loss‑of‑function.
Sources: Literature
Ataxia v2.225 TOGARAM1 Bryony Thompson Marked gene: TOGARAM1 as ready
Ataxia v2.225 TOGARAM1 Bryony Thompson Gene: togaram1 has been classified as Green List (High Evidence).
Ataxia v2.225 TOGARAM1 Bryony Thompson Classified gene: TOGARAM1 as Green List (high evidence)
Ataxia v2.225 TOGARAM1 Bryony Thompson Gene: togaram1 has been classified as Green List (High Evidence).
Ataxia v2.224 TOGARAM1 Bryony Thompson gene: TOGARAM1 was added
gene: TOGARAM1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32453716
Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MONDO:0030933
Review for gene: TOGARAM1 was set to GREEN
Added comment: PMID 32453716 reports 5 individuals from 5 families with biallelic loss-of-function TOGARAM1 variants presenting with Joubert syndrome, a neurodevelopmental ciliopathy characterised by ataxia, hypotonia and the molar‑tooth sign. Functional studies demonstrate loss of ARMC9‑TOGARAM1 interaction, altered ciliary length in overexpression assays and short cilia with reduced tubulin PTMs in patient fibroblasts, as well as recapitulation of ciliopathy phenotypes in zebrafish mutants.
Sources: Literature
Ataxia v2.223 TMEM218 Bryony Thompson Marked gene: TMEM218 as ready
Ataxia v2.223 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Ataxia v2.223 TMEM218 Bryony Thompson Classified gene: TMEM218 as Green List (high evidence)
Ataxia v2.223 TMEM218 Bryony Thompson Gene: tmem218 has been classified as Green List (High Evidence).
Ataxia v2.222 TMEM218 Bryony Thompson gene: TMEM218 was added
gene: TMEM218 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 35137054; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MONDO:0030454
Review for gene: TMEM218 was set to GREEN
Added comment: Biallelic TMEM218 variants cause a Joubert/Meckel syndrome spectrum ciliopathy featuring ataxia, cerebellar vermis hypoplasia, retinal dystrophy, occipital encephalocele and polycystic kidneys. Ataxia is a feature of the Joubert syndrome phenotype.
Sources: Literature
Ataxia v2.221 TIMM8A Bryony Thompson Marked gene: TIMM8A as ready
Ataxia v2.221 TIMM8A Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence).
Ataxia v2.221 TIMM8A Bryony Thompson Classified gene: TIMM8A as Green List (high evidence)
Ataxia v2.221 TIMM8A Bryony Thompson Gene: timm8a has been classified as Green List (High Evidence).
Ataxia v2.220 TIMM8A Bryony Thompson gene: TIMM8A was added
gene: TIMM8A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TIMM8A were set to 37325222; 32820032; 30363500
Phenotypes for gene: TIMM8A were set to deafness dystonia syndrome, MONDO:0010578
Review for gene: TIMM8A was set to GREEN
Added comment: PMID 30363500 reports 2 individuals from 1 family, PMID 32820032 reports 2 individuals from 1 family, and PMID 37325222 reports 4 individuals from 1 family, all with X‑linked loss‑of‑function TIMM8A variants causing deafness‑dystonia‑optic neuronopathy (DDON) characterised by childhood‑onset hearing loss, progressive ataxia/dystonia, optic neuropathy and cognitive decline.
Sources: Literature
Ataxia v2.219 TECPR2 Bryony Thompson Marked gene: TECPR2 as ready
Ataxia v2.219 TECPR2 Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence).
Ataxia v2.219 TECPR2 Bryony Thompson Classified gene: TECPR2 as Green List (high evidence)
Ataxia v2.219 TECPR2 Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence).
Ataxia v2.218 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 35130874; 34994087; 33847017
Phenotypes for gene: TECPR2 were set to hereditary spastic paraplegia 49, MONDO:0014016
Review for gene: TECPR2 was set to GREEN
Added comment: Biallelic loss-of-function TECPR2 variants present with hereditary spastic paraplegia. Core features include progressive ataxia, hypotonia, hyporeflexia, autonomic dysregulation and respiratory failure.
Sources: Literature
Ataxia v2.217 TBC1D24 Bryony Thompson Marked gene: TBC1D24 as ready
Ataxia v2.217 TBC1D24 Bryony Thompson Gene: tbc1d24 has been classified as Green List (High Evidence).
Ataxia v2.217 TBC1D24 Bryony Thompson Classified gene: TBC1D24 as Green List (high evidence)
Ataxia v2.217 TBC1D24 Bryony Thompson Gene: tbc1d24 has been classified as Green List (High Evidence).
Ataxia v2.216 TBC1D24 Bryony Thompson gene: TBC1D24 was added
gene: TBC1D24 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D24 were set to 41215607; 31226716; 30108545; 28663785; 26207815
Phenotypes for gene: TBC1D24 were set to developmental and epileptic encephalopathy, 16, MONDO:0014133
Review for gene: TBC1D24 was set to GREEN
Added comment: Ataxia is a core feature in up to 47 % of affected individuals with biallelic TBC1D24 variants.
Sources: Literature
Ataxia v2.215 TANGO2 Bryony Thompson Marked gene: TANGO2 as ready
Ataxia v2.215 TANGO2 Bryony Thompson Gene: tango2 has been classified as Green List (High Evidence).
Ataxia v2.215 TANGO2 Bryony Thompson Classified gene: TANGO2 as Green List (high evidence)
Ataxia v2.215 TANGO2 Bryony Thompson Gene: tango2 has been classified as Green List (High Evidence).
Ataxia v2.214 TANGO2 Bryony Thompson gene: TANGO2 was added
gene: TANGO2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 41004872; 36473599; 31276219
Phenotypes for gene: TANGO2 were set to metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MONDO:0014812
Review for gene: TANGO2 was set to GREEN
Added comment: Affected participants display neurodevelopmental delay, intellectual disability, seizures and a prominent ataxia component, together with recurrent metabolic crises.
Sources: Literature
Ataxia v2.213 SURF1 Bryony Thompson Marked gene: SURF1 as ready
Ataxia v2.213 SURF1 Bryony Thompson Gene: surf1 has been classified as Green List (High Evidence).
Ataxia v2.213 SURF1 Bryony Thompson Classified gene: SURF1 as Green List (high evidence)
Ataxia v2.213 SURF1 Bryony Thompson Gene: surf1 has been classified as Green List (High Evidence).
Ataxia v2.212 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SURF1 were set to 39066889; 33042241; 27146152; 26443249; 9837813
Phenotypes for gene: SURF1 were set to Leigh syndrome, MONDO:0009723
Review for gene: SURF1 was set to GREEN
Added comment: SURF1 encodes a cytochrome c oxidase assembly factor; biallelic loss-of-function variants cause Leigh syndrome, a mitochondrial disease where ataxia is a core feature.
Sources: Literature
Ataxia v2.211 SCARB2 Bryony Thompson Marked gene: SCARB2 as ready
Ataxia v2.211 SCARB2 Bryony Thompson Gene: scarb2 has been classified as Green List (High Evidence).
Ataxia v2.211 SCARB2 Bryony Thompson Classified gene: SCARB2 as Green List (high evidence)
Ataxia v2.211 SCARB2 Bryony Thompson Gene: scarb2 has been classified as Green List (High Evidence).
Ataxia v2.210 SCARB2 Bryony Thompson gene: SCARB2 was added
gene: SCARB2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARB2 were set to 35346091; 33772352; 33343627; 29941711; 29605618
Phenotypes for gene: SCARB2 were set to action myoclonus-renal failure syndrome, MONDO:0009699
Review for gene: SCARB2 was set to GREEN
Added comment: Biallelic loss-of-function SCARB2 variants mainly present with progressive myoclonus epilepsy, action myoclonus, cerebellar ataxia, dysarthria and variable renal dysfunction. Core features include action myoclonus, ataxia and dysarthria; renal involvement is observed in some families.
Sources: Literature
Ataxia v2.209 RNASEH1 Bryony Thompson Marked gene: RNASEH1 as ready
Ataxia v2.209 RNASEH1 Bryony Thompson Gene: rnaseh1 has been classified as Green List (High Evidence).
Ataxia v2.209 RNASEH1 Bryony Thompson Classified gene: RNASEH1 as Green List (high evidence)
Ataxia v2.209 RNASEH1 Bryony Thompson Gene: rnaseh1 has been classified as Green List (High Evidence).
Ataxia v2.208 RNASEH1 Bryony Thompson gene: RNASEH1 was added
gene: RNASEH1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH1 were set to 35711919; 28508084; 26094573
Phenotypes for gene: RNASEH1 were set to adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, MONDO:0018002
Review for gene: RNASEH1 was set to GREEN
Added comment: Biallelic RNASEH1 loss‑of‑function variants can cause a recurrent triad of PEO, muscle weakness and cerebellar ataxia, with ataxia present in over half of cases.
Sources: Literature
Ataxia v2.207 MTHFR Bryony Thompson Marked gene: MTHFR as ready
Ataxia v2.207 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Ataxia v2.207 MTHFR Bryony Thompson Classified gene: MTHFR as Green List (high evidence)
Ataxia v2.207 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Ataxia v2.206 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 37148062; 35018185; 26025547
Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353
Review for gene: MTHFR was set to GREEN
Added comment: Biallelic loss‑of‑function MTHFR variants can present with early‑onset neurocognitive impairment, seizures and later‑onset ataxia
Sources: Literature
Ataxia v2.205 STXBP1 Bryony Thompson Marked gene: STXBP1 as ready
Ataxia v2.205 STXBP1 Bryony Thompson Gene: stxbp1 has been classified as Green List (High Evidence).
Ataxia v2.205 STXBP1 Bryony Thompson Classified gene: STXBP1 as Green List (high evidence)
Ataxia v2.205 STXBP1 Bryony Thompson Gene: stxbp1 has been classified as Green List (High Evidence).
Ataxia v2.204 STXBP1 Bryony Thompson gene: STXBP1 was added
gene: STXBP1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STXBP1 were set to 32105008; 29997391; 27069701; 26514728
Phenotypes for gene: STXBP1 were set to Neurodevelopmental disorder, MONDO:0700092; developmental and epileptic encephalopathy, 4, MONDO:0012812
Review for gene: STXBP1 was set to GREEN
Added comment: STXBP1 variants are associated with both isolated congenital nonprogressive cerebellar ataxia and a broader developmental and epileptic encephalopathy that can include ataxia.
Sources: Literature
Ataxia v2.203 SPG11 Bryony Thompson Marked gene: SPG11 as ready
Ataxia v2.203 SPG11 Bryony Thompson Gene: spg11 has been classified as Green List (High Evidence).
Ataxia v2.203 SPG11 Bryony Thompson Classified gene: SPG11 as Green List (high evidence)
Ataxia v2.203 SPG11 Bryony Thompson Gene: spg11 has been classified as Green List (High Evidence).
Ataxia v2.202 SPG11 Bryony Thompson gene: SPG11 was added
gene: SPG11 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 40782215; 40730687; 39304850; 36530930; 35326432; 30778698; 29983107
Phenotypes for gene: SPG11 were set to hereditary spastic paraplegia 11, MONDO:0011445
Review for gene: SPG11 was set to GREEN
Added comment: Across seven studies, SPG11 has been implicated in 15 unrelated families (17 patients) with autosomal recessive hereditary spastic paraplegia type 11 presenting with mild cerebellar ataxia, spasticity, thin or absent corpus callosum and cognitive impairment; all families carry biallelic loss‑of‑function variants, confirming a loss‑of‑function disease mechanism.
Sources: Literature
Ataxia v2.201 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Ataxia v2.201 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Ataxia v2.201 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Ataxia v2.201 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Ataxia v2.200 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 29193829; 29053833; 28856173; 28543375; 26973221
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
Review for gene: SLC52A3 was set to GREEN
Added comment: ~15% of cases with biallelic SLC52A3 variants causing Brown‑Vialetto‑van Laere syndrome 1, a recessive riboflavin transporter deficiency, have ataxia. Functional studies included a Drosophila drift knock‑down model rescued by a riboflavin ester.
Sources: Literature
Ataxia v2.199 SLC13A5 Bryony Thompson Marked gene: SLC13A5 as ready
Ataxia v2.199 SLC13A5 Bryony Thompson Gene: slc13a5 has been classified as Green List (High Evidence).
Ataxia v2.199 SLC13A5 Bryony Thompson Classified gene: SLC13A5 as Green List (high evidence)
Ataxia v2.199 SLC13A5 Bryony Thompson Gene: slc13a5 has been classified as Green List (High Evidence).
Ataxia v2.198 SLC13A5 Bryony Thompson gene: SLC13A5 was added
gene: SLC13A5 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 39147996; 37025451
Phenotypes for gene: SLC13A5 were set to developmental and epileptic encephalopathy, 25, MONDO:0014392
Review for gene: SLC13A5 was set to GREEN
Added comment: Around a third of cases have been reported with ataxia.
Sources: Literature
Ataxia v2.197 RTN4IP1 Bryony Thompson Marked gene: RTN4IP1 as ready
Ataxia v2.197 RTN4IP1 Bryony Thompson Gene: rtn4ip1 has been classified as Green List (High Evidence).
Ataxia v2.197 RTN4IP1 Bryony Thompson Classified gene: RTN4IP1 as Green List (high evidence)
Ataxia v2.197 RTN4IP1 Bryony Thompson Gene: rtn4ip1 has been classified as Green List (High Evidence).
Ataxia v2.196 RTN4IP1 Bryony Thompson gene: RTN4IP1 was added
gene: RTN4IP1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to 42098149; 36231115; 33037779
Phenotypes for gene: RTN4IP1 were set to optic atrophy 10 with or without ataxia, intellectual disability, and seizures, MONDO:0020737
Review for gene: RTN4IP1 was set to GREEN
Added comment: Biallelic RTN4IP1 loss‑of‑function variants cause optic atrophy, intellectual disability and seizures with or without ataxia.
Sources: Literature
Ataxia v2.195 RNU4ATAC Bryony Thompson Marked gene: RNU4ATAC as ready
Ataxia v2.195 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Ataxia v2.195 RNU4ATAC Bryony Thompson Classified gene: RNU4ATAC as Green List (high evidence)
Ataxia v2.195 RNU4ATAC Bryony Thompson Gene: rnu4atac has been classified as Green List (High Evidence).
Ataxia v2.194 RNU4ATAC Bryony Thompson gene: RNU4ATAC was added
gene: RNU4ATAC was added to Ataxia. Sources: Literature
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 40935604; 36802443
Phenotypes for gene: RNU4ATAC were set to RNU4ATAC spectrum disorder, MONDO:0100558
Review for gene: RNU4ATAC was set to GREEN
Added comment: PMID 36802443 reports five individuals from four families and PMID 40935604 reports three individuals from three families, all with biallelic RNU4ATAC loss‑of‑function variants causing a Joubert syndrome‑like disorder characterised by ataxia, the molar‑tooth sign, cerebellar vermis hypoplasia, hypotonia, nystagmus and developmental delay (some with skeletal involvement); functional studies in patient fibroblasts and zebrafish confirm loss‑of‑function.
Sources: Literature
Ataxia v2.193 RHOBTB2 Bryony Thompson Classified gene: RHOBTB2 as Green List (high evidence)
Ataxia v2.193 RHOBTB2 Bryony Thompson Gene: rhobtb2 has been classified as Green List (High Evidence).
Ataxia v2.192 RHOBTB2 Bryony Thompson gene: RHOBTB2 was added
gene: RHOBTB2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHOBTB2 were set to 37982109; 33504645
Phenotypes for gene: RHOBTB2 were set to developmental and epileptic encephalopathy, 64, MONDO:0033373
Review for gene: RHOBTB2 was set to GREEN
Added comment: PMID 37982109 reports seven individuals from seven families and PMID 33504645 reports eleven individuals from eleven families with heterozygous de novo missense RHOBTB2 variants causing developmental and epileptic encephalopathy 64 with childhood‑onset ataxia, seizures and movement disorder.
Sources: Literature
Ataxia v2.191 POLR1C Bryony Thompson Marked gene: POLR1C as ready
Ataxia v2.191 POLR1C Bryony Thompson Gene: polr1c has been classified as Green List (High Evidence).
Ataxia v2.191 POLR1C Bryony Thompson Classified gene: POLR1C as Green List (high evidence)
Ataxia v2.191 POLR1C Bryony Thompson Gene: polr1c has been classified as Green List (High Evidence).
Ataxia v2.190 POLR1C Bryony Thompson gene: POLR1C was added
gene: POLR1C was added to Ataxia. Sources: Literature
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1C were set to 40176224; 38550343; 37197783; 35685919; 34484918; 33804237; 33134519; 33005949; 32319256; 32042905; 31368241
Phenotypes for gene: POLR1C were set to hypomyelinating leukodystrophy 11, MONDO:0014666
Review for gene: POLR1C was set to GREEN
Added comment: Multiple studies have identified biallelic loss‑of‑function variants in POLR1C that cause hypomyelinating leukodystrophy (4H) with early‑onset cerebellar ataxia.
Sources: Literature
Ataxia v2.189 PRDM13 Bryony Thompson Classified gene: PRDM13 as Amber List (moderate evidence)
Ataxia v2.189 PRDM13 Bryony Thompson Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Ataxia v2.188 PRDM13 Bryony Thompson gene: PRDM13 was added
gene: PRDM13 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MONDO:0859229; pontocerebellar hypoplasia, IIA 17, MONDO:0030890
Review for gene: PRDM13 was set to AMBER
Added comment: Whittaker2021 describes two Maltese families (one independent due to a shared founder deletion) harbouring a homozygous splice‑site deletion in PRDM13 with cerebellar hypoplasia, ataxia, congenital hypogonadotropic hypogonadism, intellectual disability and scoliosis.
Sources: Literature
Ataxia v2.187 PNPLA8 Bryony Thompson Marked gene: PNPLA8 as ready
Ataxia v2.187 PNPLA8 Bryony Thompson Gene: pnpla8 has been classified as Green List (High Evidence).
Ataxia v2.187 PNPLA8 Bryony Thompson Classified gene: PNPLA8 as Green List (high evidence)
Ataxia v2.187 PNPLA8 Bryony Thompson Gene: pnpla8 has been classified as Green List (High Evidence).
Ataxia v2.186 PNPLA8 Bryony Thompson gene: PNPLA8 was added
gene: PNPLA8 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to 40580440; 39680195; 37057294
Phenotypes for gene: PNPLA8 were set to Mitochondrial disease, MONDO:0044970
Review for gene: PNPLA8 was set to GREEN
Added comment: Biallelic loss-of-function PNPLA8 variants cause a mitochondrial disease characterised by cerebellar ataxia, peripheral neuropathy, tremor, limb weakness and gonadal dysfunction (primary ovarian insufficiency or gonadal dysgenesis).
Sources: Literature
Ataxia v2.185 PMM2 Bryony Thompson Marked gene: PMM2 as ready
Ataxia v2.185 PMM2 Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence).
Ataxia v2.185 PMM2 Bryony Thompson Classified gene: PMM2 as Green List (high evidence)
Ataxia v2.185 PMM2 Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence).
Ataxia v2.184 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 33407696; 29470411; 28954837
Phenotypes for gene: PMM2 were set to PMM2-congenital disorder of glycosylation, MONDO:0008907
Review for gene: PMM2 was set to GREEN
Added comment: PMM2‑CDG, an autosomal recessive disorder characterised by cerebellar ataxia, axial hypotonia, intellectual disability and multisystem involvement.
Sources: Literature
Ataxia v2.183 PLP1 Bryony Thompson Marked gene: PLP1 as ready
Ataxia v2.183 PLP1 Bryony Thompson Gene: plp1 has been classified as Green List (High Evidence).
Ataxia v2.183 PLP1 Bryony Thompson Classified gene: PLP1 as Green List (high evidence)
Ataxia v2.183 PLP1 Bryony Thompson Gene: plp1 has been classified as Green List (High Evidence).
Ataxia v2.182 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLP1 were set to 39762264; 36622199; 33795668; 33450882; 30637272; 29486744; 29451896; 26786043
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, connatal form, MONDO:0017221; Pelizaeus-Merzbacher spectrum disorder, MONDO:0010714
Review for gene: PLP1 was set to GREEN
Added comment: PLP1 encodes the proteolipid protein 1, a major component of central nervous system myelin. Pathogenic variants cause an X‑linked spectrum of leukodystrophies that commonly present with ataxia, spastic paraplegia and other neurological signs.
Sources: Literature
Ataxia v2.181 PIGG Bryony Thompson Marked gene: PIGG as ready
Ataxia v2.181 PIGG Bryony Thompson Gene: pigg has been classified as Green List (High Evidence).
Ataxia v2.181 PIGG Bryony Thompson Classified gene: PIGG as Green List (high evidence)
Ataxia v2.181 PIGG Bryony Thompson Gene: pigg has been classified as Green List (High Evidence).
Ataxia v2.180 PIGG Bryony Thompson gene: PIGG was added
gene: PIGG was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 41744056; 34113002; 28581210
Phenotypes for gene: PIGG were set to intellectual disability, autosomal recessive 53, MONDO:0014832
Review for gene: PIGG was set to GREEN
Added comment: Biallelic loss-of-function PIGG variants present with intellectual disability, cerebellar ataxia, seizures, hypotonia and motor neuropathy. Core features include cerebellar atrophy, gait ataxia and peripheral nerve hyperexcitability. Evidence includes segregation data, functional loss-of-function assays and recurrent variants.
Sources: Literature
Ataxia v2.179 PIBF1 Bryony Thompson Marked gene: PIBF1 as ready
Ataxia v2.179 PIBF1 Bryony Thompson Gene: pibf1 has been classified as Green List (High Evidence).
Ataxia v2.179 PIBF1 Bryony Thompson Classified gene: PIBF1 as Green List (high evidence)
Ataxia v2.179 PIBF1 Bryony Thompson Gene: pibf1 has been classified as Green List (High Evidence).
Ataxia v2.178 PIBF1 Bryony Thompson gene: PIBF1 was added
gene: PIBF1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 41230208; 40448720; 34592808; 33004012; 30858804; 29695797; 26167768
Phenotypes for gene: PIBF1 were set to Joubert syndrome, MONDO:0018772
Review for gene: PIBF1 was set to GREEN
Added comment: Joubert syndrome, a recessive ciliopathy characterised by cerebellar vermis hypoplasia, molar tooth sign, developmental delay, hypotonia and prominent ataxia. All families harbour biallelic loss‑of‑function PIBF1 variants (nonsense, frameshift, in‑frame insertion or missense with demonstrated loss of function). Functional studies show that wild‑type PIBF1 rescues ciliogenesis in knock‑down cells and that patient‑derived alleles fail to rescue ciliation in Xenopus, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Fetal anomalies v2.91 RASA2 Zornitza Stark Publications for gene: RASA2 were set to 25049390
Cardiomyopathy_Paediatric v2.4 RASA2 Zornitza Stark Publications for gene: RASA2 were set to PMID: 25049390
Cardiomyopathy_Paediatric v2.3 Zornitza Stark Added reviews for gene RASA2 from panel Rasopathy
Mendeliome v2.636 RASA2 Zornitza Stark Publications for gene: RASA2 were set to 41854160; 25049390; 30311384
Rasopathy v1.2 RASA2 Zornitza Stark Publications for gene: RASA2 were set to 25049390; 30311384
Ataxia v2.177 PI4KA Bryony Thompson Marked gene: PI4KA as ready
Ataxia v2.177 PI4KA Bryony Thompson Gene: pi4ka has been classified as Green List (High Evidence).
Ataxia v2.177 PI4KA Bryony Thompson Classified gene: PI4KA as Green List (high evidence)
Ataxia v2.177 PI4KA Bryony Thompson Gene: pi4ka has been classified as Green List (High Evidence).
Ataxia v2.176 PI4KA Bryony Thompson gene: PI4KA was added
gene: PI4KA was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 39312004; 38003592
Phenotypes for gene: PI4KA were set to Neurodevelopmental disorder, MONDO:0700092; Syndromic disease, MONDO:0002254
Review for gene: PI4KA was set to GREEN
Added comment: PI4KA encodes a phosphatidylinositol 4‑kinase; biallelic loss‑of‑function variants cause distinct recessive syndromes that feature early‑onset ataxia.
Saettini2024 reports 13 unrelated families (12 independent) with biallelic PI4KA loss‑of‑function variants. Affected individuals present with childhood‑onset ataxia, developmental delay, seizures, limb spasticity, nystagmus and severe B‑cell immunodeficiency (lymphopenia, hypogammaglobulinemia). The prominent ataxia aligns with the Ataxia panel’s focus on cerebellar motor impairment.
Martnezrubio2023 describes a single family (1 independent) harbouring compound heterozygous splice and missense PI4KA variants. The proband exhibits early‑onset spasticity, acute ataxia, hypomyelinating leukodystrophy and cerebellar atrophy, without immunodeficiency. The ataxia and cerebellar degeneration also fit the Ataxia panel.
Sources: Literature
Clefting disorders v1.57 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Clefting disorders v1.57 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Clefting disorders v1.57 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from STL1; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss); Stickler sydrome, type I, non syndromic ocular; Cleft palate; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM; STICKLER SYNDROME, TYPE I; Orofacial Clefting with skeletal features; Stickler Syndrome; STICKLER SYNDROME, TYPE I (STL1), 108300; STICKLER SYNDROME, VITREOUS TYPE 1 to Type 2 collagenopathy MONDO:0022800
Clefting disorders v1.56 COL2A1 Zornitza Stark commented on gene: COL2A1: Well established gene-disease association with a range of phenotypes, likely representing a spectrum of disease. Cleft palate is a feature.
Clefting disorders v1.56 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 2 collagenopathy MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.56 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Clefting disorders v1.56 COL9A1 Zornitza Stark Gene: col9a1 has been classified as Green List (High Evidence).
Clefting disorders v1.56 COL9A1 Zornitza Stark Phenotypes for gene: COL9A1 were changed from Autosomal recessive Stickler syndrome; Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Orofacial Clefting with skeletal features; Cleft palate to Stickler syndrome, type IV, MIM# 614134
Clefting disorders v1.55 COL9A1 Zornitza Stark Publications for gene: COL9A1 were set to 16909383; 21421862
Clefting disorders v1.54 COL9A1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Cleft palate is a key feature.
Clefting disorders v1.54 Zornitza Stark Added reviews for gene COL9A1 from panel Stickler Syndrome
Clefting disorders v1.53 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Clefting disorders v1.53 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Clefting disorders v1.53 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from 3MC SYNDROME 3; 3MC3 to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340
Clefting disorders v1.52 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to 21258343
Clefting disorders v1.51 Zornitza Stark Added reviews for gene COLEC10 from panel Mendeliome
Clefting disorders v1.50 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Clefting disorders v1.50 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Clefting disorders v1.50 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from 3MC2; 3MC SYNDROME 2 to 3MC syndrome 2, MIM# 265050
Clefting disorders v1.49 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Clefting disorders v1.48 Zornitza Stark Added reviews for gene COLEC11 from panel Mendeliome
Clefting disorders v1.47 CPLANE1 Zornitza Stark Marked gene: CPLANE1 as ready
Clefting disorders v1.47 CPLANE1 Zornitza Stark Gene: cplane1 has been classified as Green List (High Evidence).
Clefting disorders v1.47 CPLANE1 Zornitza Stark Phenotypes for gene: CPLANE1 were changed from OFD6; OROFACIODIGITAL SYNDROME VI to Orofaciodigital syndrome VI, MIM# 277170
Clefting disorders v1.46 CPLANE1 Zornitza Stark reviewed gene: CPLANE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.46 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Clefting disorders v1.46 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Clefting disorders v1.46 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate to Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)
Clefting disorders v1.45 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Clefting disorders v1.44 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1 (MIM#228520), Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Clefting disorders v1.44 CILK1 Zornitza Stark Marked gene: CILK1 as ready
Clefting disorders v1.44 CILK1 Zornitza Stark Gene: cilk1 has been classified as Green List (High Evidence).
Clefting disorders v1.44 CILK1 Zornitza Stark Phenotypes for gene: CILK1 were changed from ECO; Endocrine-cerebroosteodysplasia, 612651 (includes cleft lip, cleft palate) to Endocrine-cerebroosteodysplasia, MIM# 612651
Clefting disorders v1.43 CILK1 Zornitza Stark reviewed gene: CILK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19185282; Phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.43 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Clefting disorders v1.43 CHST14 Zornitza Stark Gene: chst14 has been classified as Red List (Low Evidence).
Clefting disorders v1.43 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Clefting disorders v1.42 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Clefting disorders v1.41 CHST14 Zornitza Stark Classified gene: CHST14 as Red List (low evidence)
Clefting disorders v1.41 CHST14 Zornitza Stark Gene: chst14 has been classified as Red List (Low Evidence).
Clefting disorders v1.40 CHST14 Zornitza Stark reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: 20004762; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.40 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Clefting disorders v1.40 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Clefting disorders v1.40 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000 to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290
Clefting disorders v1.39 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rasopathy v1.1 Eleanor Ludington Added reviews for gene RASA2 from panel Mendeliome
Mendeliome v2.635 RASA2 Eleanor Ludington changed review comment from: Total of 4 unrelated individuals described in the literature with Noonan/Noonan-like features, who are heterozygous for missense variants, one reported as de novo (PMID: 25049390, PMID: 41854160). Two variants were absent from gnomAD and the other two had 7 hets and 14 hets in gnomAD v4. One of the patients had an alternative variant in a different candidate gene.

Additionally, 3 other unrelated patients have been reported in the literature with Noonan/Noonan-like features with cardiac involvement who are heterozygous for three different intronic non-canonical splice region variants of uncertain significance in RASA2 (PMID: 42261585). No documented segregation of these variants. No functional evidence. One variant had 2 hets in gnomAD v4, one variant was absent, and one variant had an alternative nucleotide change at the same position in 5 hets in gnomAD.; to: Total of 4 unrelated individuals described in the literature with Noonan/Noonan-like features, who are heterozygous for missense variants, one reported as de novo (PMID: 25049390, PMID: 41854160). Two variants were absent from gnomAD and the other two had 7 hets and 14 hets in gnomAD v4. One of the patients had an alternative variant in a different candidate gene.

Additionally, 3 other unrelated patients have been reported in the literature with Noonan/Noonan-like features with cardiac involvement who are heterozygous for three different intronic non-canonical splice region variants of uncertain significance in RASA2 (PMID: 42261585). No documented segregation of these variants. No functional evidence. One variant had 2 hets in gnomAD v4, one variant was absent, and one variant had an alternative nucleotide change at the same position in 5 hets in gnomAD.
Mendeliome v2.635 RASA2 Eleanor Ludington reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 42261585, 41854160, 27942422, 25049390; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v2.34 Eleanor Ludington Copied gene DDIAS from panel Mendeliome
Microcephaly v2.34 DDIAS Eleanor Ludington gene: DDIAS was added
gene: DDIAS was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: DDIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDIAS were set to 42636811; 10.1101/2025.09.09.675193
Phenotypes for gene: DDIAS were set to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v2.161 Eleanor Ludington Copied gene DDIAS from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.161 DDIAS Eleanor Ludington gene: DDIAS was added
gene: DDIAS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DDIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDIAS were set to 42636811; 10.1101/2025.09.09.675193
Phenotypes for gene: DDIAS were set to Neurodevelopmental disorder, MONDO:0700092
Genetic Epilepsy v2.47 Eleanor Ludington Copied gene DDIAS from panel Mendeliome
Genetic Epilepsy v2.47 DDIAS Eleanor Ludington gene: DDIAS was added
gene: DDIAS was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: DDIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDIAS were set to 42636811; 10.1101/2025.09.09.675193
Phenotypes for gene: DDIAS were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v2.635 DDIAS Eleanor Ludington gene: DDIAS was added
gene: DDIAS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DDIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDIAS were set to 42636811; 10.1101/2025.09.09.675193
Phenotypes for gene: DDIAS were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: DDIAS was set to RED
Added comment: PMID 42636811 reports 2 individuals from a consanguineous family with a homozygous nonsense variant presenting with a severe neurodevelopmental disorder characterised by microcephaly, seizures, global developmental delay, intellectual disability, and motor dysfunction.

Functional evidence: Patient-derived lymphoblastoid cells show micronucleation rescued by wild‑type DDIAS, and zebrafish and cerebral‑organoid models resulted in microcephaly‑like phenotypes. The zebrafish models brain area and palatoquadrate-to-Meckel’s cartilage ratio reduction phenotypes were rescued by expression of human WT DDIAS (PMID 42636811).

There are 4 individuals in gnomAD v4 who are homozygous for LoF variants in DDIAS.
Sources: Literature
Mendeliome v2.634 SOX9 upstream regulatory region gain Sarah Milton changed review comment from: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY.

Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male.

The coordinates used in this entry are the minimal critical region affecting XYSR enhancer however reported duplications range from 3.7kb to 780kb.
Incomplete penetrance has been observed.

Supportive functional studies in the form of mouse models and luciferase reporter assays have been published.

Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry.
Sources: Literature; to: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY.

Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male.

The coordinates used in this entry are the minimal critical region affecting XYSR or RevSex enhancer however reported duplications range from 3.7kb to 780kb.
Incomplete penetrance has been observed.

Supportive functional studies in the form of mouse models and luciferase reporter assays have been published.

Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry.
Sources: Literature
Differences of Sex Development v2.9 SOX9 upstream regulatory region gain Sarah Milton changed review comment from: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY.

Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male.

The coordinates used in this entry are the minimal critical region affecting XYSR enhancer however reported duplications range from 3.7kb to 780kb.
Incomplete penetrance has been observed.

Supportive functional studies in the form of mouse models and luciferase reporter assays have been published.

Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry.
Sources: Literature; to: The upstream regulatory region of SOX9 has been demonstrated to have key roles in transcription factor binding including binding of SRY.

Increased dosage of this agenic region has been demonstrated in a number of individuals to result in 46XX sex reversal with a varying phenotype from DSD to phenotypic male.

The coordinates used in this entry are the minimal critical region affecting XYSR or RevSex enhancer however reported duplications range from 3.7kb to 780kb.
Incomplete penetrance has been observed.

Supportive functional studies in the form of mouse models and luciferase reporter assays have been published.

Note: Duplications of this region in 46,XY individuals don't result in a phenotype. Refer to ISCA-46303 loss entry.
Sources: Literature
Differences of Sex Development v2.9 SOX9 upstream regulatory region gain Sarah Milton GRCh38 position for SOX9 upstream regulatory region gain was changed from 71481430-71486709 to 71481430-73552769.
Mendeliome v2.634 SOX9 upstream regulatory region gain Sarah Milton GRCh38 position for SOX9 upstream regulatory region gain was changed from 71481430-71486709 to 71481430-73552769.
Heterotaxy v2.6 Eleanor Ludington Copied gene FAM222B from panel Mendeliome
Heterotaxy v2.6 FAM222B Eleanor Ludington gene: FAM222B was added
gene: FAM222B was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM222B were set to 42632841
Phenotypes for gene: FAM222B were set to Congenital heart disease MONDO:0005453
Congenital Heart Defect v1.37 Eleanor Ludington Copied gene FAM222B from panel Mendeliome
Congenital Heart Defect v1.37 FAM222B Eleanor Ludington gene: FAM222B was added
gene: FAM222B was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM222B were set to 42632841
Phenotypes for gene: FAM222B were set to Congenital heart disease MONDO:0005453
Mendeliome v2.633 FAM222B Eleanor Ludington gene: FAM222B was added
gene: FAM222B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM222B were set to 42632841
Phenotypes for gene: FAM222B were set to Congenital heart disease MONDO:0005453
Review for gene: FAM222B was set to GREEN
Added comment: PMID 42632841 reports 13 individuals from 7 families with heterozygous missense or in‑frame deletion variants in FAM222B causing dominant congenital heart disease including atrial septal defects, ventricular septal defects, atrioventricular septal defects and bicuspid aortic valve, as well as left isomerism in two individuals. Zebrafish models undertaken as part of this research were also supportive of pathogenic variants in FAM222B resulting in abnormal cardiogenesis.
Sources: Literature
Fetal anomalies v2.90 Krithika Murali Copied gene MED16 from panel Mendeliome
Fetal anomalies v2.90 MED16 Krithika Murali gene: MED16 was added
gene: MED16 was added to Fetal anomalies. Sources: Expert Review Green,Other
Mode of inheritance for gene: MED16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED16 were set to Guillouet-Gordon syndrome MIM#621220
Intellectual disability syndromic and non-syndromic v2.160 ANKS1B Sarah Milton Classified gene: ANKS1B as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v2.160 ANKS1B Sarah Milton Gene: anks1b has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.159 ANKS1B Sarah Milton Deleted their comment
Intellectual disability syndromic and non-syndromic v2.159 ANKS1B Sarah Milton commented on gene: ANKS1B: Downgrading to amber on basis of Clingen assessment of haploinsufficiency this June 2026 with conclusion - haploinsufficiency score of 1.

Majority of intragenic ANKS1B deletions have been inherited with little information about parental status. Requires further evidence to establish haploinsufficiency.
Intellectual disability syndromic and non-syndromic v2.159 ANKS1B Sarah Milton reviewed gene: ANKS1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.632 ANKS1B Sarah Milton Classified gene: ANKS1B as Amber List (moderate evidence)
Mendeliome v2.632 ANKS1B Sarah Milton Gene: anks1b has been classified as Amber List (Moderate Evidence).
Mendeliome v2.631 ANKS1B Sarah Milton reviewed gene: ANKS1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.51 NUP210L Bryony Thompson Marked gene: NUP210L as ready
Infertility and Recurrent Pregnancy Loss v2.51 NUP210L Bryony Thompson Gene: nup210l has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.51 NUP210L Bryony Thompson Classified gene: NUP210L as Green List (high evidence)
Infertility and Recurrent Pregnancy Loss v2.51 NUP210L Bryony Thompson Gene: nup210l has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v2.50 NUP210L Bryony Thompson Publications for gene: NUP210L were set to 20034429; 33332558
Infertility and Recurrent Pregnancy Loss v2.49 NUP210L Bryony Thompson edited their review of gene: NUP210L: Added comment: PMID 42055687 adds two independent families with biallelic loss‑of‑function or functionally validated missense variants, confirming the association of NUP210L with male infertility and bringing the total number of qualifying families to three. PMID 42548189 reports an additional consanguineous family harbouring a homozygous in‑frame deletion (p.Ser501del) , providing further functional insight (protein mis‑localisation, loss of PLCζ). PMID 38129135 restates the original PMID 33332558 case, confirming the phenotype but adding no new families. PMID 20034429 reports a single consanguineous family. Both reviews noted a mouse null model supporting the disease mechanism.; Changed rating: GREEN; Changed publications: 42548189, 42055687, 38129135, 33332558, 20034429
Infertility and Recurrent Pregnancy Loss v2.49 Bryony Thompson Added reviews for gene NUP210L from panel Mendeliome
Mendeliome v2.631 NUP210L Bryony Thompson Publications for gene: NUP210L were set to 20034429; 33332558
Mendeliome v2.630 NUP210L Bryony Thompson Classified gene: NUP210L as Green List (high evidence)
Mendeliome v2.630 NUP210L Bryony Thompson Gene: nup210l has been classified as Green List (High Evidence).
Mendeliome v2.629 NUP210L Bryony Thompson edited their review of gene: NUP210L: Added comment: PMID 42055687 adds two independent families with biallelic loss‑of‑function or functionally validated missense variants, confirming the association of NUP210L with male infertility and bringing the total number of qualifying families to three. PMID 42548189 reports an additional consanguineous family harbouring a homozygous in‑frame deletion (p.Ser501del) , providing further functional insight (protein mis‑localisation, loss of PLCζ). PMID 38129135 restates the original PMID 33332558 case, confirming the phenotype but adding no new families. PMID 20034429 reports a single consanguineous family. Both reviews noted a mouse null model supporting the disease mechanism.; Changed rating: GREEN; Changed publications: 42548189, 42055687, 38129135, 33332558; Changed phenotypes: spermatogenic failure, MONDO:0004983
Mendeliome v2.629 ABCA7 Bryony Thompson changed review comment from: ABCA7 encodes an ATP‑binding cassette transporter involved in lipid transport and amyloid‑β clearance. PMID 31230720 describes two unrelated families with biallelic missense ABCA7 variants in cases with arthrogryposis; however, other homozygous variants were also present in each case. Single case with a homozygous frameshift in frontotemporal dementia (PMID 34561610). Also reported as an Alzheimer's disease susceptibility gene. Across all phenotypes, the evidence is limited by lack of functional validation, inheritance from unaffected carriers and the classification of ABCA7 as a susceptibility gene.
Sources: Literature; to: ABCA7 encodes an ATP‑binding cassette transporter involved in lipid transport and amyloid‑β clearance. PMID 31230720 describes two unrelated families with biallelic missense ABCA7 variants in cases with arthrogryposis; however, other homozygous variants were also present in each case. Single case with a homozygous frameshift in frontotemporal dementia (PMID 34561610). Also reported as an Alzheimer's disease susceptibility gene that doesn't follow Mendelian inheritance. Across all phenotypes, the evidence is limited by lack of functional validation, inheritance from unaffected carriers and the classification of ABCA7 as a susceptibility gene.
Sources: Literature
Mendeliome v2.629 ABCA7 Bryony Thompson Marked gene: ABCA7 as ready
Mendeliome v2.629 ABCA7 Bryony Thompson Gene: abca7 has been classified as Red List (Low Evidence).
Mendeliome v2.629 ABCA7 Bryony Thompson gene: ABCA7 was added
gene: ABCA7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCA7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ABCA7 were set to 42422539; 39149795; 36701017; 34561610; 31230720; 28447221
Phenotypes for gene: ABCA7 were set to Alzheimer disease 9, MONDO:0012153; Syndromic disease, MONDO:0002254
Review for gene: ABCA7 was set to RED
Added comment: ABCA7 encodes an ATP‑binding cassette transporter involved in lipid transport and amyloid‑β clearance. PMID 31230720 describes two unrelated families with biallelic missense ABCA7 variants in cases with arthrogryposis; however, other homozygous variants were also present in each case. Single case with a homozygous frameshift in frontotemporal dementia (PMID 34561610). Also reported as an Alzheimer's disease susceptibility gene. Across all phenotypes, the evidence is limited by lack of functional validation, inheritance from unaffected carriers and the classification of ABCA7 as a susceptibility gene.
Sources: Literature
Leukodystrophy v1.12 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Leukodystrophy v1.12 SPG7 Zornitza Stark Gene: spg7 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v1.12 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive 607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Leukodystrophy v1.11 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v1.10 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.159 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive; OMIM #607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Intellectual disability syndromic and non-syndromic v2.158 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.157 SPG7 Zornitza Stark edited their review of gene: SPG7: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v2.12 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970
Mitochondrial disease v2.11 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v2.10 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: The mono allelic association is DISPUTED by ClinGen: there have been multiple reports of autosomal dominant SPG7-related disorder characterized by spasticity, ataxia, and/or optic atrophy (PMIDs: 11222789, 22571692, 39978794, 37983191, 32548275). However, there is minimal functional evidence to support the deleterious nature of these variants in the heterozygous state, and many variants are now recognized to be too common in the general population to be associated with the reported phenotypes.

RED for monoallelic.

The biallelic association is DEFINITIVE by ClinGen.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v2.7 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from autosomal dominant optical atrophy to Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970
Optic Atrophy v2.6 SPG7 Zornitza Stark Publications for gene: SPG7 were set to 32548275
Optic Atrophy v2.5 SPG7 Zornitza Stark Classified gene: SPG7 as Red List (low evidence)
Optic Atrophy v2.5 SPG7 Zornitza Stark Gene: spg7 has been classified as Red List (Low Evidence).
Optic Atrophy v2.4 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: The mono allelic association is DISPUTED by ClinGen: there have been multiple reports of autosomal dominant SPG7-related disorder characterized by spasticity, ataxia, and/or optic atrophy (PMIDs: 11222789, 22571692, 39978794, 37983191, 32548275). However, there is minimal functional evidence to support the deleterious nature of these variants in the heterozygous state, and many variants are now recognized to be too common in the general population to be associated with the reported phenotypes.; Changed rating: RED; Changed publications: 11222789, 22571692, 39978794, 37983191, 32548275; Changed phenotypes: Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.628 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970
Mendeliome v2.627 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.626 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: The mono allelic association is DISPUTED by ClinGen: there have been multiple reports of autosomal dominant SPG7-related disorder characterized by spasticity, ataxia, and/or optic atrophy (PMIDs: 11222789, 22571692, 39978794, 37983191, 32548275). However, there is minimal functional evidence to support the deleterious nature of these variants in the heterozygous state, and many variants are now recognized to be too common in the general population to be associated with the reported phenotypes.

RED for monoallelic.

The biallelic association is DEFINITIVE by ClinGen.; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.39 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Clefting disorders v1.39 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Clefting disorders v1.39 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME to CHARGE syndrome, MIM# 214800
Clefting disorders v1.38 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.38 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Clefting disorders v1.38 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Clefting disorders v1.38 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from BECKWITH-WIEDEMANN SYNDROME; BWS to Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476
Clefting disorders v1.37 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v2.157 PUSL1 Rylee Peters Marked gene: PUSL1 as ready
Intellectual disability syndromic and non-syndromic v2.157 PUSL1 Rylee Peters Gene: pusl1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v2.10 PUSL1 Rylee Peters Marked gene: PUSL1 as ready
Mitochondrial disease v2.10 PUSL1 Rylee Peters Gene: pusl1 has been classified as Amber List (Moderate Evidence).
Microcephaly v2.33 PUSL1 Rylee Peters Marked gene: PUSL1 as ready
Microcephaly v2.33 PUSL1 Rylee Peters Gene: pusl1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v2.10 Rylee Peters Copied gene PUSL1 from panel Mendeliome
Mitochondrial disease v2.10 PUSL1 Rylee Peters gene: PUSL1 was added
gene: PUSL1 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PUSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUSL1 were set to 42598855
Phenotypes for gene: PUSL1 were set to Mitochondrial disease, MONDO:0044970, PUSL1-related
Microcephaly v2.33 Rylee Peters Copied gene PUSL1 from panel Mendeliome
Microcephaly v2.33 PUSL1 Rylee Peters gene: PUSL1 was added
gene: PUSL1 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PUSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUSL1 were set to 42598855
Phenotypes for gene: PUSL1 were set to Mitochondrial disease, MONDO:0044970, PUSL1-related
Intellectual disability syndromic and non-syndromic v2.157 Rylee Peters Copied gene PUSL1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.157 PUSL1 Rylee Peters gene: PUSL1 was added
gene: PUSL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PUSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUSL1 were set to 42598855
Phenotypes for gene: PUSL1 were set to Mitochondrial disease, MONDO:0044970, PUSL1-related
Mendeliome v2.626 PUSL1 Rylee Peters Marked gene: PUSL1 as ready
Mendeliome v2.626 PUSL1 Rylee Peters Gene: pusl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.626 PUSL1 Rylee Peters Classified gene: PUSL1 as Amber List (moderate evidence)
Mendeliome v2.626 PUSL1 Rylee Peters Gene: pusl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.625 PUSL1 Rylee Peters gene: PUSL1 was added
gene: PUSL1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PUSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUSL1 were set to 42598855
Phenotypes for gene: PUSL1 were set to Mitochondrial disease, MONDO:0044970, PUSL1-related
Review for gene: PUSL1 was set to AMBER
Added comment: PUSL1 is a pseudouridine synthase (PUS) that catalyses the isomerisation of uridine to pseudouridine in RNA substrates.

PMID: 42598855 reports 2 unrelated individuals with homozygous PUSL1 variants (c.704G>A p.Arg235Gln missense and c.634del p.Glu212Argfs*26 frameshift) presenting with mitochondrial disease characterised by developmental delay, cerebellar ataxia, microcephaly and early‑onset dementia. These variants have 136 hets and 798 hets/1hom in gnomAD v4, respectively. Functional assays in PUSL1‑KO cells show loss of mitochondrial tRNA U39 pseudouridylation, with abolished catalytic activity noted for the frameshift variant and impaired but not completely abolished catalytic activity for the missense variant.
Sources: Literature
Clefting disorders v1.37 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Clefting disorders v1.37 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Clefting disorders v1.37 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from MKS6; Meckel-Gruber syndrome; Meckel syndrome 6, 612284 to Meckel syndrome 6, MIM# 612284
Clefting disorders v1.36 CC2D2A Zornitza Stark reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513680; Phenotypes: Meckel syndrome 6, MIM# 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.36 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Clefting disorders v1.36 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Clefting disorders v1.36 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from OFD14; OROFACIODIGITAL SYNDROME XIV to Orofaciodigital syndrome XIV, MIM# 615948
Clefting disorders v1.35 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Clefting disorders v1.34 C2CD3 Zornitza Stark reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 30097616; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.89 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Marked Region: 10q24 duplication syndrome Split hand foot malformation 3 as ready
Fetal anomalies v2.89 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Region: 10q24 duplication syndrome split hand foot malformation 3 has been classified as Green List (High Evidence).
Hand and foot malformations v1.12 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Marked Region: 10q24 duplication syndrome Split hand foot malformation 3 as ready
Hand and foot malformations v1.12 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Region: 10q24 duplication syndrome split hand foot malformation 3 has been classified as Green List (High Evidence).
Retinitis pigmentosa v1.14 CLUAP1 Rylee Peters Marked gene: CLUAP1 as ready
Retinitis pigmentosa v1.14 CLUAP1 Rylee Peters Gene: cluap1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.153 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Marked Region: 10q24 duplication syndrome Split hand foot malformation 3 as ready
Skeletal dysplasia v1.153 10q24 duplication syndrome Split hand foot malformation 3 Zornitza Stark Region: 10q24 duplication syndrome split hand foot malformation 3 has been classified as Green List (High Evidence).
Retinitis pigmentosa v1.14 Rylee Peters Copied gene CLUAP1 from panel Mendeliome
Retinitis pigmentosa v1.14 CLUAP1 Rylee Peters gene: CLUAP1 was added
gene: CLUAP1 was added to Retinitis pigmentosa. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CLUAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLUAP1 were set to 34209753; 28679688; 26820066
Phenotypes for gene: CLUAP1 were set to Leber congenital amaurosis, MONDO:0018998, CLUAP1-related; Ciliopathy, MONDO:0005308, CLUAP1-related; Retinitis pigmentosa (MONDO:0019200), CLUAP1-related
Fetal anomalies v2.89 8q13 deletion Mesomelia-Synostoses Syndrome Zornitza Stark Marked Region: 8q13 deletion Mesomelia-Synostoses Syndrome as ready
Fetal anomalies v2.89 8q13 deletion Mesomelia-Synostoses Syndrome Zornitza Stark Region: 8q13 deletion mesomelia-synostoses syndrome has been classified as Green List (High Evidence).
Skeletal dysplasia v1.153 8q13 deletion Mesomelia-Synostoses Syndrome Zornitza Stark Marked Region: 8q13 deletion Mesomelia-Synostoses Syndrome as ready
Skeletal dysplasia v1.153 8q13 deletion Mesomelia-Synostoses Syndrome Zornitza Stark Region: 8q13 deletion mesomelia-synostoses syndrome has been classified as Green List (High Evidence).
Mendeliome v2.624 CLUAP1 Rylee Peters Phenotypes for gene: CLUAP1 were changed from Leber congenital amaurosis, MONDO:0018998, CLUAP1-related; Ciliopathy, MONDO:0005308, CLUAP1-related to Leber congenital amaurosis, MONDO:0018998, CLUAP1-related; Ciliopathy, MONDO:0005308, CLUAP1-related; Retinitis pigmentosa (MONDO:0019200), CLUAP1-related
Mendeliome v2.623 CLUAP1 Rylee Peters reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 42627378; Phenotypes: Retinitis pigmentosa (MONDO:0019200), CLUAP1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.89 MSX2 upstream regulatory region Zornitza Stark Marked Region: MSX2 upstream regulatory region as ready
Fetal anomalies v2.89 MSX2 upstream regulatory region Zornitza Stark Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.153 MSX2 upstream regulatory region Zornitza Stark Marked Region: MSX2 upstream regulatory region as ready
Skeletal dysplasia v1.153 MSX2 upstream regulatory region Zornitza Stark Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12 FAT1 Zornitza Stark Gene: fat1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v2.46 PREX1 Zornitza Stark Marked gene: PREX1 as ready
Genetic Epilepsy v2.46 PREX1 Zornitza Stark Gene: prex1 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.153 CDC6 Zornitza Stark Marked gene: CDC6 as ready
Skeletal dysplasia v1.153 CDC6 Zornitza Stark Gene: cdc6 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.153 CDC6 Zornitza Stark Phenotypes for gene: CDC6 were changed from Meier-Gorlin syndrome 5 613805 to Meier-Gorlin syndrome 5 MIM#613805
Congenital Heart Defect v1.36 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Congenital Heart Defect v1.36 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v2.46 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Genetic Epilepsy v2.46 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency v2.6 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Severe Combined Immunodeficiency v2.6 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.156 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Intellectual disability syndromic and non-syndromic v2.156 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Clefting disorders v1.34 ISCA-37446-Loss Zornitza Stark Marked Region: ISCA-37446-Loss as ready
Clefting disorders v1.34 ISCA-37446-Loss Zornitza Stark Region: isca-37446-loss has been classified as Green List (High Evidence).
Fetal anomalies v2.89 ISCA-37447-Loss Zornitza Stark Marked Region: ISCA-37447-Loss as ready
Fetal anomalies v2.89 ISCA-37447-Loss Zornitza Stark Region: isca-37447-loss has been classified as Green List (High Evidence).
Growth failure v2.28 ISCA-37447-Loss Zornitza Stark Marked Region: ISCA-37447-Loss as ready
Growth failure v2.28 ISCA-37447-Loss Zornitza Stark Region: isca-37447-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.156 ISCA-37447-Loss Zornitza Stark Marked Region: ISCA-37447-Loss as ready
Intellectual disability syndromic and non-syndromic v2.156 ISCA-37447-Loss Zornitza Stark Region: isca-37447-loss has been classified as Green List (High Evidence).
Mendeliome v2.623 ISCA-37447-Loss Zornitza Stark Marked Region: ISCA-37447-Loss as ready
Mendeliome v2.623 ISCA-37447-Loss Zornitza Stark Region: isca-37447-loss has been classified as Green List (High Evidence).
Imprinting disorders v2.1 ISCA-37447-Loss Zornitza Stark Marked Region: ISCA-37447-Loss as ready
Imprinting disorders v2.1 ISCA-37447-Loss Zornitza Stark Region: isca-37447-loss has been classified as Green List (High Evidence).
Ataxia v2.175 ABCA2 Zornitza Stark Marked gene: ABCA2 as ready
Ataxia v2.175 ABCA2 Zornitza Stark Gene: abca2 has been classified as Green List (High Evidence).
Ataxia v2.175 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Ataxia v2.175 ACOX1 Zornitza Stark Gene: acox1 has been classified as Amber List (Moderate Evidence).
Ataxia v2.175 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Ataxia v2.175 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Ataxia v2.175 ASL Zornitza Stark Marked gene: ASL as ready
Ataxia v2.175 ASL Zornitza Stark Gene: asl has been classified as Amber List (Moderate Evidence).
Ataxia v2.175 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Ataxia v2.175 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Ataxia v2.175 ATG12 Zornitza Stark Marked gene: ATG12 as ready
Ataxia v2.175 ATG12 Zornitza Stark Gene: atg12 has been classified as Amber List (Moderate Evidence).
Ataxia v2.175 ATG12 Zornitza Stark Classified gene: ATG12 as Amber List (moderate evidence)
Ataxia v2.175 ATG12 Zornitza Stark Gene: atg12 has been classified as Amber List (Moderate Evidence).
Ataxia v2.174 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Ataxia v2.174 CLP1 Zornitza Stark Gene: clp1 has been classified as Amber List (Moderate Evidence).
Ataxia v2.174 CLP1 Zornitza Stark Classified gene: CLP1 as Amber List (moderate evidence)
Ataxia v2.174 CLP1 Zornitza Stark Gene: clp1 has been classified as Amber List (Moderate Evidence).
Ataxia v2.173 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Ataxia v2.173 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Ataxia v2.173 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Ataxia v2.173 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Ataxia v2.172 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Ataxia v2.172 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Ataxia v2.172 CYP7B1 Zornitza Stark Classified gene: CYP7B1 as Green List (high evidence)
Ataxia v2.172 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Ataxia v2.171 EIF2AK2 Zornitza Stark Marked gene: EIF2AK2 as ready
Ataxia v2.171 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Ataxia v2.171 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Ataxia v2.171 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Ataxia v2.170 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Ataxia v2.170 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Ataxia v2.170 MTO1 Zornitza Stark Classified gene: MTO1 as Green List (high evidence)
Ataxia v2.170 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Ataxia v2.169 MYORG Zornitza Stark Marked gene: MYORG as ready
Ataxia v2.169 MYORG Zornitza Stark Gene: myorg has been classified as Green List (High Evidence).
Ataxia v2.169 MYORG Zornitza Stark Classified gene: MYORG as Green List (high evidence)
Ataxia v2.169 MYORG Zornitza Stark Gene: myorg has been classified as Green List (High Evidence).
Ataxia v2.168 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Ataxia v2.168 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Green List (High Evidence).
Ataxia v2.168 OGDHL Zornitza Stark Marked gene: OGDHL as ready
Ataxia v2.168 OGDHL Zornitza Stark Gene: ogdhl has been classified as Green List (High Evidence).
Ataxia v2.168 PAK1 Zornitza Stark Marked gene: PAK1 as ready
Ataxia v2.168 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Ataxia v2.168 PAK1 Zornitza Stark Classified gene: PAK1 as Green List (high evidence)
Ataxia v2.168 PAK1 Zornitza Stark Gene: pak1 has been classified as Green List (High Evidence).
Ataxia v2.167 PIGK Zornitza Stark Marked gene: PIGK as ready
Ataxia v2.167 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Ataxia v2.167 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Ataxia v2.167 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Ataxia v2.166 POLR2A Zornitza Stark Marked gene: POLR2A as ready
Ataxia v2.166 POLR2A Zornitza Stark Gene: polr2a has been classified as Green List (High Evidence).
Ataxia v2.166 POLR2A Zornitza Stark Classified gene: POLR2A as Green List (high evidence)
Ataxia v2.166 POLR2A Zornitza Stark Gene: polr2a has been classified as Green List (High Evidence).
Ataxia v2.165 PTPMT1 Zornitza Stark Marked gene: PTPMT1 as ready
Ataxia v2.165 PTPMT1 Zornitza Stark Gene: ptpmt1 has been classified as Green List (High Evidence).
Ataxia v2.165 PTPMT1 Zornitza Stark Classified gene: PTPMT1 as Green List (high evidence)
Ataxia v2.165 PTPMT1 Zornitza Stark Gene: ptpmt1 has been classified as Green List (High Evidence).
Ataxia v2.164 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Ataxia v2.164 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Ataxia v2.164 PYCR2 Zornitza Stark Classified gene: PYCR2 as Green List (high evidence)
Ataxia v2.164 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Ataxia v2.163 RFC4 Zornitza Stark Marked gene: RFC4 as ready
Ataxia v2.163 RFC4 Zornitza Stark Gene: rfc4 has been classified as Green List (High Evidence).
Ataxia v2.163 DYRK1A Zornitza Stark Marked gene: DYRK1A as ready
Ataxia v2.163 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Ataxia v2.163 DYRK1A Zornitza Stark Classified gene: DYRK1A as Green List (high evidence)
Ataxia v2.163 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Ataxia v2.162 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Ataxia v2.162 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Ataxia v2.162 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Green List (high evidence)
Ataxia v2.162 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Ataxia v2.161 SRPK3 Zornitza Stark Marked gene: SRPK3 as ready
Ataxia v2.161 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Ataxia v2.161 SRPK3 Zornitza Stark Mode of inheritance for gene: SRPK3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ataxia v2.160 SRPK3 Zornitza Stark Classified gene: SRPK3 as Amber List (moderate evidence)
Ataxia v2.160 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Ataxia v2.159 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Ataxia v2.159 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Ataxia v2.159 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Ataxia v2.159 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Ataxia v2.158 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Ataxia v2.158 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Ataxia v2.158 TELO2 Zornitza Stark Classified gene: TELO2 as Green List (high evidence)
Ataxia v2.158 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Mendeliome v2.623 CSTB Zornitza Stark Tag 5'UTR tag was added to gene: CSTB.
Mendeliome v2.623 CSTB Zornitza Stark changed review comment from: 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.; to: 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.

Also note, entry below from Ain Roesley refers to another gene and is in error.
Intellectual disability syndromic and non-syndromic v2.156 PAICS Zornitza Stark Marked gene: PAICS as ready
Intellectual disability syndromic and non-syndromic v2.156 PAICS Zornitza Stark Gene: paics has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.156 Zornitza Stark Copied gene PAICS from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.156 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779; 42569864; 39726239; 39604553
Phenotypes for gene: PAICS were set to PAICS deficiency, MONDO:0859003; Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859; Disorders of purine metabolism
Fetal anomalies v2.89 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from PAICS deficiency MONDO:0859003 to PAICS deficiency, MONDO:0859003; Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859; Disorders of purine metabolism
Fetal anomalies v2.88 PAICS Zornitza Stark Publications for gene: PAICS were set to 31600779
Fetal anomalies v2.87 PAICS Zornitza Stark Classified gene: PAICS as Amber List (moderate evidence)
Fetal anomalies v2.87 PAICS Zornitza Stark Gene: paics has been classified as Amber List (Moderate Evidence).
Fetal anomalies v2.86 Zornitza Stark Added reviews for gene PAICS from panel Mendeliome
Mendeliome v2.623 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from PAICS deficiency MONDO:0859003 to PAICS deficiency, MONDO:0859003; Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859; Disorders of purine metabolism
Mendeliome v2.622 PAICS Zornitza Stark Publications for gene: PAICS were set to 31600779
Mendeliome v2.621 PAICS Zornitza Stark Classified gene: PAICS as Amber List (moderate evidence)
Mendeliome v2.621 PAICS Zornitza Stark Gene: paics has been classified as Amber List (Moderate Evidence).
Nucleotide metabolism disorders v1.4 PAICS Zornitza Stark Marked gene: PAICS as ready
Nucleotide metabolism disorders v1.4 PAICS Zornitza Stark Gene: paics has been classified as Amber List (Moderate Evidence).
Nucleotide metabolism disorders v1.4 PAICS Zornitza Stark Phenotypes for gene: PAICS were changed from PAICS deficiency MONDO:0859003 to PAICS deficiency, MONDO:0859003; Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859; Disorders of purine metabolism
Nucleotide metabolism disorders v1.3 PAICS Zornitza Stark Publications for gene: PAICS were set to 31600779
Nucleotide metabolism disorders v1.2 PAICS Zornitza Stark Classified gene: PAICS as Amber List (moderate evidence)
Nucleotide metabolism disorders v1.2 PAICS Zornitza Stark Gene: paics has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.155 CHD9 Zornitza Stark Marked gene: CHD9 as ready
Intellectual disability syndromic and non-syndromic v2.155 CHD9 Zornitza Stark Gene: chd9 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v2.155 Zornitza Stark Copied gene CHD9 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.155 CHD9 Zornitza Stark gene: CHD9 was added
gene: CHD9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CHD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD9 were set to 42640505; 35183220
Phenotypes for gene: CHD9 were set to Neurodevelopmental disorder, MONDO:0700092, CHD9-related
Intellectual disability syndromic and non-syndromic v2.154 KIRREL3 Zornitza Stark Publications for gene: KIRREL3 were set to 19012874
Intellectual disability syndromic and non-syndromic v2.153 KIRREL3 Zornitza Stark Phenotypes for gene: KIRREL3 were changed from Intellectual disability to complex neurodevelopmental disorder, MONDO:0100038, KIRREL3-related
Intellectual disability syndromic and non-syndromic v2.152 KIRREL3 Zornitza Stark edited their review of gene: KIRREL3: Changed phenotypes: complex neurodevelopmental disorder, MONDO:0100038, KIRREL3-related
Intellectual disability syndromic and non-syndromic v2.152 KIRREL3 Zornitza Stark edited their review of gene: KIRREL3: Added comment: PMID 42590949 reports 26 individuals with neurodevelopmental features such as mood disorders, autism, ADHD or mild intellectual impairment with missense variants in KIRREL3. Some variants were de novo and some were inherited with many still present in population databases. However, given non-specific phenotypes, lack of segregation or functional data, and presence of many of the variants in pop databases, the rating remains RED.; Changed publications: 19012874, 42590949
Mendeliome v2.620 KIRREL3 Zornitza Stark Phenotypes for gene: KIRREL3 were changed from Intellectual disability MONDO:0001071, KIRREL3-related to complex neurodevelopmental disorder, MONDO:0100038, KIRREL3-related
Mendeliome v2.619 KIRREL3 Zornitza Stark Publications for gene: KIRREL3 were set to 19012874
Mendeliome v2.618 POU3F4 upstream regulatory region Zornitza Stark Marked Region: POU3F4 upstream regulatory region as ready
Mendeliome v2.618 POU3F4 upstream regulatory region Zornitza Stark Region: pou3f4 upstream regulatory region has been classified as Green List (High Evidence).
Mendeliome v2.618 NEB Zornitza Stark Publications for gene: NEB were set to 25205138; 10051637; 22367672; 26578207; 33376055
Mendeliome v2.617 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive 256030; MONDO:0009725; Arthrogryposis multiplex congenita 6, MIM# 619334 to autosomal dominant nebulin-related myopathy, MONDO:1010152; Nemaline myopathy 2, autosomal recessive 256030; MONDO:0009725; Arthrogryposis multiplex congenita 6, MIM# 619334
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12 NEB Zornitza Stark Phenotypes for gene: NEB were changed from distal myopathy MONDO:0018949 to autosomal dominant nebulin-related myopathy, MONDO:1010152
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.11 NEB Zornitza Stark Publications for gene: NEB were set to 21724397; 17525139; 33458580; 25205138
Mendeliome v2.616 LRP1 Zornitza Stark Publications for gene: LRP1 were set to 26142438; 33776059; 36067312
Intellectual disability syndromic and non-syndromic v2.152 LRP1 Zornitza Stark Marked gene: LRP1 as ready
Intellectual disability syndromic and non-syndromic v2.152 LRP1 Zornitza Stark Gene: lrp1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.152 LRP1 Zornitza Stark Phenotypes for gene: LRP1 were changed from Developmental dysplasia of the hip 3, MIM# 620690; Keratosis pilaris atrophicans MIM#604093 to Neurodevelopmental disorder, MONDO:0700092; Syndromic disease, MONDO:0002254; developmental dysplasia of the hip 3, MONDO:0958037; keratosis pilaris atrophicans, MONDO:0018855; ?Keratosis pilaris atrophicans, MIM#604093; Developmental dysplasia of the hip 3, MIM#620690
Intellectual disability syndromic and non-syndromic v2.151 LRP1 Zornitza Stark Publications for gene: LRP1 were set to 26142438; 33776059; 36067312
Genomic newborn screening: BabyScreen+ v2.13 LPIN1 Zornitza Stark Marked gene: LPIN1 as ready
Genomic newborn screening: BabyScreen+ v2.13 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.13 LPIN1 Zornitza Stark Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive MIM#268200
Genomic newborn screening: BabyScreen+ v2.12 LPIN1 Zornitza Stark Tag TRAIL study tag was added to gene: LPIN1.
Genomic newborn screening: BabyScreen+ v2.12 LPIN1 Zornitza Stark Classified gene: LPIN1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v2.12 LPIN1 Zornitza Stark Gene: lpin1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.11 IFNAR1 Zornitza Stark Marked gene: IFNAR1 as ready
Genomic newborn screening: BabyScreen+ v2.11 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.11 IFNAR1 Zornitza Stark Phenotypes for gene: IFNAR1 were changed from to Immunodeficiency 106, susceptibility to viral infections, MIM# 619935
Genomic newborn screening: BabyScreen+ v2.10 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v2.10 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.9 IFNAR1 Zornitza Stark Tag TRAIL study tag was added to gene: IFNAR1.
Renal Macrocystic Disease v2.1 SLC34A3 Zornitza Stark Marked gene: SLC34A3 as ready
Renal Macrocystic Disease v2.1 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v2.1 SLC34A3 Zornitza Stark Classified gene: SLC34A3 as Green List (high evidence)
Renal Macrocystic Disease v2.1 SLC34A3 Zornitza Stark Gene: slc34a3 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v2.9 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial respiratory chain complex II deficiency, MIM#252011
Genomic newborn screening: BabyScreen+ v2.8 SDHA Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v2.8 SDHA Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v2.7 SDHA Zornitza Stark Tag TRAIL study tag was added to gene: SDHA.
Inflammatory bowel disease v1.4 AIRE Zornitza Stark Marked gene: AIRE as ready
Inflammatory bowel disease v1.4 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Inflammatory bowel disease v1.4 AIRE Zornitza Stark Classified gene: AIRE as Green List (high evidence)
Inflammatory bowel disease v1.4 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v2.2 JPH2 Zornitza Stark Publications for gene: JPH2 were set to 30681346; 17509612; 23973696; 26869393; 28393127; 30235249; 29540472; 31227780; 29165669; 27471098; 30384889; 31227780; 10949023; 23715556
Cardiomyopathy_Paediatric v2.1 JPH2 Zornitza Stark Classified gene: JPH2 as Green List (high evidence)
Cardiomyopathy_Paediatric v2.1 JPH2 Zornitza Stark Gene: jph2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v2.12 MAP3K7 Zornitza Stark Marked gene: MAP3K7 as ready
Dilated Cardiomyopathy v2.12 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v2.12 MAP3K7 Zornitza Stark Phenotypes for gene: MAP3K7 were changed from Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome to Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome (CSCF) MIM# 157800
Dilated Cardiomyopathy v2.11 MAP3K7 Zornitza Stark Classified gene: MAP3K7 as Green List (high evidence)
Dilated Cardiomyopathy v2.11 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Clefting disorders v1.34 BPNT2 Zornitza Stark Marked gene: BPNT2 as ready
Clefting disorders v1.34 BPNT2 Zornitza Stark Gene: bpnt2 has been classified as Green List (High Evidence).
Clefting disorders v1.34 BPNT2 Zornitza Stark Phenotypes for gene: BPNT2 were changed from Chondrodysplasia with joint dislocations, GPAPP type, 614078 (includes cleft palate) to Chondrodysplasia with joint dislocations, GPAPP type, MIM# 614078
Clefting disorders v1.33 BPNT2 Zornitza Stark reviewed gene: BPNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549340, 22887726; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type, MIM# 614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.33 BMP2 Zornitza Stark Marked gene: BMP2 as ready
Clefting disorders v1.33 BMP2 Zornitza Stark Gene: bmp2 has been classified as Green List (High Evidence).
Clefting disorders v1.33 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.33 BCOR Zornitza Stark Marked gene: BCOR as ready
Clefting disorders v1.33 BCOR Zornitza Stark Gene: bcor has been classified as Green List (High Evidence).
Clefting disorders v1.33 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from MCOPS2; MICROPHTHALMIA, SYNDROMIC 2 to Microphthalmia, syndromic 2, MIM# 300166
Clefting disorders v1.32 BCOR Zornitza Stark Publications for gene: BCOR were set to
Clefting disorders v1.31 BCOR Zornitza Stark edited their review of gene: BCOR: Changed rating: GREEN
Clefting disorders v1.31 BCOR Zornitza Stark reviewed gene: BCOR: Rating: ; Mode of pathogenicity: None; Publications: 39438869, 15957158; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v1.31 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Clefting disorders v1.31 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Clefting disorders v1.31 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from PETERS-PLUS SYNDROME to Peters-plus syndrome, MIM# 261540
Clefting disorders v1.30 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Clefting disorders v1.29 B3GLCT Zornitza Stark reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23161355; Phenotypes: Peters-plus syndrome, MIM# 261540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v1.29 ASXL1 Zornitza Stark Marked gene: ASXL1 as ready
Clefting disorders v1.29 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Clefting disorders v1.29 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from BOPS; BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome, MIM# 605039
Clefting disorders v1.28 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Clefting disorders v1.27 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26364555; Phenotypes: Bohring-Opitz syndrome, MIM# 605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v1.27 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Clefting disorders v1.27 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Red List (Low Evidence).
Clefting disorders v1.27 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from AOS1; ADAMS-OLIVER SYNDROME 1 to Adams-Oliver syndrome 1, MIM#100300
Clefting disorders v1.26 ARHGAP31 Zornitza Stark Classified gene: ARHGAP31 as Red List (low evidence)
Clefting disorders v1.26 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Red List (Low Evidence).
Clefting disorders v1.25 ARHGAP31 Zornitza Stark reviewed gene: ARHGAP31: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.615 ARHGAP31 Zornitza Stark Deleted their review
Cholestasis v2.2 ISCA-37432-Loss Zornitza Stark Marked Region: ISCA-37432-Loss as ready
Cholestasis v2.2 ISCA-37432-Loss Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence).
Cholestasis v2.2 ISCA-37432-Loss Zornitza Stark reviewed Region: ISCA-37432-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v2.8 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Cerebellar and Pontocerebellar Hypoplasia v2.8 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Cerebellar and Pontocerebellar Hypoplasia v2.8 PIK3R5 Zornitza Stark Publications for gene: PIK3R5 were set to PubMed: 22065524
Cerebellar and Pontocerebellar Hypoplasia v2.7 MED29 Zornitza Stark Marked gene: MED29 as ready
Cerebellar and Pontocerebellar Hypoplasia v2.7 MED29 Zornitza Stark Gene: med29 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v2.7 MAPK8IP3 Zornitza Stark Marked gene: MAPK8IP3 as ready
Cerebellar and Pontocerebellar Hypoplasia v2.7 MAPK8IP3 Zornitza Stark Gene: mapk8ip3 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v2.7 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to PMID: 30945334, 30612693
Cardiac conduction disease v2.3 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Cardiac conduction disease v2.3 GNB2 Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence).
Cardiac conduction disease v2.3 EMD Zornitza Stark Marked gene: EMD as ready
Cardiac conduction disease v2.3 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Bone Marrow Failure v2.9 NFE2 Zornitza Stark Marked gene: NFE2 as ready
Bone Marrow Failure v2.9 NFE2 Zornitza Stark Gene: nfe2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v2.9 ISCA-37500-Loss Zornitza Stark Marked Region: ISCA-37500-Loss as ready
Bone Marrow Failure v2.9 ISCA-37500-Loss Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence).
Hereditary Neuropathy v3.0 Zornitza Stark promoted panel to version 3.0
Hereditary Neuropathy v2.152 TRPA1 Zornitza Stark Marked gene: TRPA1 as ready
Hereditary Neuropathy v2.152 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.152 TRPA1 Zornitza Stark Phenotypes for gene: TRPA1 were changed from Episodic pain syndrome, familial, 1; HSAN/SFN to Episodic pain syndrome, familial, 1, MIM# 615040
Hereditary Neuropathy v2.151 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Hereditary Neuropathy v2.151 SPG7 Zornitza Stark Gene: spg7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.151 SH3BP4 Zornitza Stark Marked gene: SH3BP4 as ready
Hereditary Neuropathy v2.151 SH3BP4 Zornitza Stark Gene: sh3bp4 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.151 SH3BP4 Zornitza Stark Phenotypes for gene: SH3BP4 were changed from HMSN to Inherited peripheral neuropathy, MONDO:0020127, SH3BP4-related
Hereditary Neuropathy v2.150 RBM7 Zornitza Stark Marked gene: RBM7 as ready
Hereditary Neuropathy v2.150 RBM7 Zornitza Stark Gene: rbm7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.150 NRG1 Zornitza Stark Marked gene: NRG1 as ready
Hereditary Neuropathy v2.150 NRG1 Zornitza Stark Gene: nrg1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.150 NAMPT Zornitza Stark Marked gene: NAMPT as ready
Hereditary Neuropathy v2.150 NAMPT Zornitza Stark Gene: nampt has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.150 MED25 Zornitza Stark Marked gene: MED25 as ready
Hereditary Neuropathy v2.150 MED25 Zornitza Stark Gene: med25 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.150 MARS1 Zornitza Stark Marked gene: MARS1 as ready
Hereditary Neuropathy v2.150 MARS1 Zornitza Stark Gene: mars1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.150 MARS1 Zornitza Stark Phenotypes for gene: MARS1 were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 to Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
Hereditary Neuropathy v2.149 LAS1L Zornitza Stark Marked gene: LAS1L as ready
Hereditary Neuropathy v2.149 LAS1L Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.149 KLHL13 Zornitza Stark Marked gene: KLHL13 as ready
Hereditary Neuropathy v2.149 KLHL13 Zornitza Stark Gene: klhl13 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.149 KLHL13 Zornitza Stark Phenotypes for gene: KLHL13 were changed from HMSN to Hereditary peripheral neuropathy, MONDO:0020127, KLHL13-related
Hereditary Neuropathy v2.148 KIF1B Zornitza Stark Marked gene: KIF1B as ready
Hereditary Neuropathy v2.148 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.148 KIF1B Zornitza Stark Phenotypes for gene: KIF1B were changed from Charcot Marie Tooth disease, type 2A1, 118210; HMSN to Charcot-Marie-Tooth disease, type 2A1 MIM#118210
Hereditary Neuropathy v2.147 IQGAP3 Zornitza Stark Marked gene: IQGAP3 as ready
Hereditary Neuropathy v2.147 IQGAP3 Zornitza Stark Gene: iqgap3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.147 IQGAP3 Zornitza Stark Phenotypes for gene: IQGAP3 were changed from Hereditary neuropathy to Hereditary neuropathy, MONDO:0020127, IQGAP3-related
Hereditary Neuropathy v2.146 HSPB3 Zornitza Stark Marked gene: HSPB3 as ready
Hereditary Neuropathy v2.146 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.146 HSPB3 Zornitza Stark Phenotypes for gene: HSPB3 were changed from HMSN, dHMN/dSMA; ?Neuronopathy, distal hereditary motor, type IIC, 613376 to Neuronopathy, distal hereditary motor, type IIC, MIM# 613376
Hereditary Neuropathy v2.145 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Hereditary Neuropathy v2.145 BANF1 Zornitza Stark Gene: banf1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v2.145 WARS1 Zornitza Stark Marked gene: WARS1 as ready
Hereditary Neuropathy v2.145 WARS1 Zornitza Stark Gene: wars1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.145 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Hereditary Neuropathy v2.145 UBA5 Zornitza Stark Gene: uba5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.145 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from Hypomyelinating neuropathy to Hereditary peripheral neuropathy, MONDO:0020127, UBA5-related
Hereditary Neuropathy v2.144 PRPH Zornitza Stark Marked gene: PRPH as ready
Hereditary Neuropathy v2.144 PRPH Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.144 PRPH Zornitza Stark Mode of inheritance for gene: PRPH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v2.143 PCK2 Zornitza Stark Marked gene: PCK2 as ready
Hereditary Neuropathy v2.143 PCK2 Zornitza Stark Gene: pck2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.143 NFASC Zornitza Stark Marked gene: NFASC as ready
Hereditary Neuropathy v2.143 NFASC Zornitza Stark Gene: nfasc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.143 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Hereditary Neuropathy v2.143 NAGLU Zornitza Stark Gene: naglu has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.143 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN to Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
Hereditary Neuropathy v2.142 NAGLU Zornitza Stark Publications for gene: NAGLU were set to
Hereditary Neuropathy v2.141 MYO9B Zornitza Stark Marked gene: MYO9B as ready
Hereditary Neuropathy v2.141 MYO9B Zornitza Stark Gene: myo9b has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.141 LMNA Zornitza Stark Marked gene: LMNA as ready
Hereditary Neuropathy v2.141 LMNA Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.141 GNE Zornitza Stark Marked gene: GNE as ready
Hereditary Neuropathy v2.141 GNE Zornitza Stark Gene: gne has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.141 FBXO38 Zornitza Stark Marked gene: FBXO38 as ready
Hereditary Neuropathy v2.141 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.141 FBXO38 Zornitza Stark Phenotypes for gene: FBXO38 were changed from Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA to Neuronopathy, distal hereditary motor, type IID, MIM#615575
Hereditary Neuropathy v2.140 FBXO38 Zornitza Stark Publications for gene: FBXO38 were set to
Hereditary Neuropathy v2.139 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Hereditary Neuropathy v2.139 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.139 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to 23141294, 29661920, 28902413
Hereditary Neuropathy v2.138 DGAT2 Zornitza Stark Marked gene: DGAT2 as ready
Hereditary Neuropathy v2.138 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.138 CFAP276 Zornitza Stark Marked gene: CFAP276 as ready
Hereditary Neuropathy v2.138 CFAP276 Zornitza Stark Gene: cfap276 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.138 CFAP276 Zornitza Stark Phenotypes for gene: CFAP276 were changed from Charcot-Marie-Tooth disease, intermediate or demyelinating to hereditary peripheral neuropathy, MONDO:0020127, CFAP276-related
Hereditary Neuropathy v2.137 ARPC3 Zornitza Stark Marked gene: ARPC3 as ready
Hereditary Neuropathy v2.137 ARPC3 Zornitza Stark Gene: arpc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.137 ARHGEF10 Zornitza Stark Marked gene: ARHGEF10 as ready
Hereditary Neuropathy v2.137 ARHGEF10 Zornitza Stark Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.137 ARHGEF10 Zornitza Stark Phenotypes for gene: ARHGEF10 were changed from ?Slowed nerve conduction velocity, AD, 608236; HMSN to Slowed nerve conduction velocity, MIM# 608236
Hereditary Neuropathy v2.136 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Hereditary Neuropathy v2.136 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 YARS1 Zornitza Stark Marked gene: YARS1 as ready
Hereditary Neuropathy v2.136 YARS1 Zornitza Stark Gene: yars1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 XRCC1 Zornitza Stark Marked gene: XRCC1 as ready
Hereditary Neuropathy v2.136 XRCC1 Zornitza Stark Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Hereditary Neuropathy v2.136 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 VWA1_HMNMYO_GCGCGGAGCG Zornitza Stark Marked STR: VWA1_HMNMYO_GCGCGGAGCG as ready
Hereditary Neuropathy v2.136 VWA1_HMNMYO_GCGCGGAGCG Zornitza Stark Str: vwa1_hmnmyo_gcgcggagcg has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 VWA1 Zornitza Stark Marked gene: VWA1 as ready
Hereditary Neuropathy v2.136 VWA1 Zornitza Stark Gene: vwa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.136 VWA1 Zornitza Stark Phenotypes for gene: VWA1 were changed from Hereditary motor neuropathy to Neuronopathy, distal hereditary motor, autosomal recessive 7, MIM# 619216
Hereditary Neuropathy v2.135 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Hereditary Neuropathy v2.135 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.135 VCP Zornitza Stark Marked gene: VCP as ready
Hereditary Neuropathy v2.135 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.135 VAPB Zornitza Stark Marked gene: VAPB as ready
Hereditary Neuropathy v2.135 VAPB Zornitza Stark Gene: vapb has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.135 VAPB Zornitza Stark Phenotypes for gene: VAPB were changed from Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 to Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980
Hereditary Neuropathy v2.134 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Hereditary Neuropathy v2.134 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.134 TTPA Zornitza Stark Marked gene: TTPA as ready
Hereditary Neuropathy v2.134 TTPA Zornitza Stark Gene: ttpa has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.134 TTPA Zornitza Stark Phenotypes for gene: TTPA were changed from Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa to Ataxia with isolated vitamin E deficiency MIM#277460
Hereditary Neuropathy v2.133 TTPA Zornitza Stark Publications for gene: TTPA were set to
Hereditary Neuropathy v2.132 TRPV4 Zornitza Stark Marked gene: TRPV4 as ready
Hereditary Neuropathy v2.132 TRPV4 Zornitza Stark Gene: trpv4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.132 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 to Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
Hereditary Neuropathy v2.131 TRIM2 Zornitza Stark Marked gene: TRIM2 as ready
Hereditary Neuropathy v2.131 TRIM2 Zornitza Stark Gene: trim2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.131 TFG Zornitza Stark Marked gene: TFG as ready
Hereditary Neuropathy v2.131 TFG Zornitza Stark Gene: tfg has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.131 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Hereditary Neuropathy v2.131 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.131 TECPR2 Zornitza Stark Phenotypes for gene: TECPR2 were changed from Spastic paraplegia 49, autosomal recessive; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Hereditary Neuropathy v2.130 TECPR2 Zornitza Stark Publications for gene: TECPR2 were set to
Hereditary Neuropathy v2.129 SYT2 Zornitza Stark Marked gene: SYT2 as ready
Hereditary Neuropathy v2.129 SYT2 Zornitza Stark Gene: syt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.129 SYT2 Zornitza Stark Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic; HMSN to Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; neuropathy
Hereditary Neuropathy v2.128 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Hereditary Neuropathy v2.128 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.128 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV to Charcot-Marie-Tooth disease, type 4K (MIM#616684; MONDO:0014733)
Hereditary Neuropathy v2.127 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Hereditary Neuropathy v2.126 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Hereditary Neuropathy v2.126 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Hereditary Neuropathy v2.126 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Hereditary Neuropathy v2.126 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SPTBN4 Zornitza Stark Marked gene: SPTBN4 as ready
Hereditary Neuropathy v2.126 SPTBN4 Zornitza Stark Gene: sptbn4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Hereditary Neuropathy v2.126 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Hereditary Neuropathy v2.126 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SORD Zornitza Stark Marked gene: SORD as ready
Hereditary Neuropathy v2.126 SORD Zornitza Stark Gene: sord has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SOD1 Zornitza Stark Marked gene: SOD1 as ready
Hereditary Neuropathy v2.126 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Hereditary Neuropathy v2.126 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.126 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Hereditary Neuropathy v2.125 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Hereditary Neuropathy v2.125 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.125 SIGMAR1 Zornitza Stark Marked gene: SIGMAR1 as ready
Hereditary Neuropathy v2.125 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.125 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ) to Neuronopathy, distal hereditary motor, autosomal recessive 2, MIM# 605726
Hereditary Neuropathy v2.124 SH3TC2 Zornitza Stark Marked gene: SH3TC2 as ready
Hereditary Neuropathy v2.124 SH3TC2 Zornitza Stark Gene: sh3tc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.124 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 to Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353
Hereditary Neuropathy v2.123 SEPTIN9 Zornitza Stark Marked gene: SEPTIN9 as ready
Hereditary Neuropathy v2.123 SEPTIN9 Zornitza Stark Gene: septin9 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.123 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Hereditary Neuropathy v2.123 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.123 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Hereditary Neuropathy v2.123 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.123 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Hereditary Neuropathy v2.123 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.123 SCN10A Zornitza Stark Marked gene: SCN10A as ready
Hereditary Neuropathy v2.123 SCN10A Zornitza Stark Gene: scn10a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.123 SCN10A Zornitza Stark Phenotypes for gene: SCN10A were changed from HSAN/SFN; Episodic pain syndrome, familial, 2, 615551 to Episodic pain syndrome, familial, 2, MIM# 615551
Hereditary Neuropathy v2.122 SCN10A Zornitza Stark Mode of pathogenicity for gene: SCN10A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hereditary Neuropathy v2.121 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Hereditary Neuropathy v2.121 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.121 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563 to Charcot Marie Tooth disease, type 4B2, MIM#604563
Hereditary Neuropathy v2.120 SARS1 Zornitza Stark Marked gene: SARS1 as ready
Hereditary Neuropathy v2.120 SARS1 Zornitza Stark Gene: sars1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 RTN2 Zornitza Stark Marked gene: RTN2 as ready
Hereditary Neuropathy v2.120 RTN2 Zornitza Stark Gene: rtn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Hereditary Neuropathy v2.120 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Hereditary Neuropathy v2.120 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 RCC1 Zornitza Stark Marked gene: RCC1 as ready
Hereditary Neuropathy v2.120 RCC1 Zornitza Stark Gene: rcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 RAB7A Zornitza Stark Marked gene: RAB7A as ready
Hereditary Neuropathy v2.120 RAB7A Zornitza Stark Gene: rab7a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 PRX Zornitza Stark Marked gene: PRX as ready
Hereditary Neuropathy v2.120 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Hereditary Neuropathy v2.120 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.120 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN to Charcot Marie Tooth disease, X linked recessive, 5, MIM#311070
Hereditary Neuropathy v2.119 PRDM12_HSAN8_GCC Zornitza Stark Marked STR: PRDM12_HSAN8_GCC as ready
Hereditary Neuropathy v2.119 PRDM12_HSAN8_GCC Zornitza Stark Str: prdm12_hsan8_gcc has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.119 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Hereditary Neuropathy v2.119 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.119 PMP2 Zornitza Stark Marked gene: PMP2 as ready
Hereditary Neuropathy v2.119 PMP2 Zornitza Stark Gene: pmp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.119 PMP2 Zornitza Stark Phenotypes for gene: PMP2 were changed from HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 to HMSN; Charcot-Marie-Tooth disease, demyelinating, type 1G, MIM#618279
Hereditary Neuropathy v2.118 PMP2 Zornitza Stark Publications for gene: PMP2 were set to 26257172; 26828946; 27009151
Hereditary Neuropathy v2.117 PLEKHG5 Zornitza Stark Marked gene: PLEKHG5 as ready
Hereditary Neuropathy v2.117 PLEKHG5 Zornitza Stark Gene: plekhg5 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.117 PIGG Zornitza Stark Marked gene: PIGG as ready
Hereditary Neuropathy v2.117 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.117 PDK3 Zornitza Stark Marked gene: PDK3 as ready
Hereditary Neuropathy v2.117 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.117 NGF Zornitza Stark Marked gene: NGF as ready
Hereditary Neuropathy v2.117 NGF Zornitza Stark Gene: ngf has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.117 NGF Zornitza Stark Phenotypes for gene: NGF were changed from HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092 to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092
Hereditary Neuropathy v2.116 NEFL Zornitza Stark Marked gene: NEFL as ready
Hereditary Neuropathy v2.116 NEFL Zornitza Stark Gene: nefl has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.116 NEFH Zornitza Stark Marked gene: NEFH as ready
Hereditary Neuropathy v2.116 NEFH Zornitza Stark Gene: nefh has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.116 NEFH Zornitza Stark Phenotypes for gene: NEFH were changed from Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN to Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924
Hereditary Neuropathy v2.115 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Hereditary Neuropathy v2.115 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.115 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Hereditary Neuropathy v2.115 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.115 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085 to Charcot Marie Tooth disease, type 4D, MIM#601455; MONDO:0011085
Hereditary Neuropathy v2.114 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Hereditary Neuropathy v2.114 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.114 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066 to Charcot-Marie-Tooth disease, type 4B1, 601382; MONDO:0011066
Hereditary Neuropathy v2.113 MPZ Zornitza Stark Marked gene: MPZ as ready
Hereditary Neuropathy v2.113 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.113 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Hereditary Neuropathy v2.113 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.113 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Hereditary Neuropathy v2.112 MME Zornitza Stark Marked gene: MME as ready
Hereditary Neuropathy v2.112 MME Zornitza Stark Gene: mme has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.112 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Hereditary Neuropathy v2.112 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.112 LRSAM1 Zornitza Stark Marked gene: LRSAM1 as ready
Hereditary Neuropathy v2.112 LRSAM1 Zornitza Stark Gene: lrsam1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.112 LITAF Zornitza Stark Marked gene: LITAF as ready
Hereditary Neuropathy v2.112 LITAF Zornitza Stark Gene: litaf has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.112 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Hereditary Neuropathy v2.112 KIF5A Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.112 KIF5A Zornitza Stark Phenotypes for gene: KIF5A were changed from Hereditary Neuropathies; HMSN to Spastic paraplegia 10, autosomal dominant MIM#604187; Neuropathy
Hereditary Neuropathy v2.111 KIF5A Zornitza Stark edited their review of gene: KIF5A: Changed phenotypes: Spastic paraplegia 10, autosomal dominant MIM#604187, Neuropathy
Hereditary Neuropathy v2.111 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Hereditary Neuropathy v2.111 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.111 KIF1A Zornitza Stark Phenotypes for gene: KIF1A were changed from HSAN/SFN; Neuropathy, hereditary sensory, type IIC, 614213 to Neuropathy, hereditary sensory, type IIC, MIM# 614213
Hereditary Neuropathy v2.110 JAG1 Zornitza Stark Marked gene: JAG1 as ready
Hereditary Neuropathy v2.110 JAG1 Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.110 JAG1 Zornitza Stark Phenotypes for gene: JAG1 were changed from Peripheral neuropathy to Charcot-Marie-Tooth disease, axonal, type 2HH 619574
Hereditary Neuropathy v2.109 ITPR3 Zornitza Stark Marked gene: ITPR3 as ready
Hereditary Neuropathy v2.109 ITPR3 Zornitza Stark Gene: itpr3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.109 ISCA-37436-Loss Zornitza Stark Marked Region: ISCA-37436-Loss as ready
Hereditary Neuropathy v2.109 ISCA-37436-Loss Zornitza Stark Region: isca-37436-loss has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.109 ISCA-37436-Gain Zornitza Stark Marked Region: ISCA-37436-Gain as ready
Hereditary Neuropathy v2.109 ISCA-37436-Gain Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.109 INF2 Zornitza Stark Marked gene: INF2 as ready
Hereditary Neuropathy v2.109 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.109 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from Charcot Marie Tooth disease, dominant intermediate E, 614455; HMSN to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455
Hereditary Neuropathy v2.108 IGHMBP2 Zornitza Stark Marked gene: IGHMBP2 as ready
Hereditary Neuropathy v2.108 IGHMBP2 Zornitza Stark Gene: ighmbp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.108 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, axonal, type 2S 616155; Neuronopathy, distal hereditary motor, type VI, 604320 to Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Hereditary Neuropathy v2.107 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Hereditary Neuropathy v2.107 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.107 HSPB1 Zornitza Stark Marked gene: HSPB1 as ready
Hereditary Neuropathy v2.107 HSPB1 Zornitza Stark Gene: hspb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.107 HK1 Zornitza Stark Marked gene: HK1 as ready
Hereditary Neuropathy v2.107 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.107 HK1 Zornitza Stark Phenotypes for gene: HK1 were changed from HMSN; Neuropathy, hereditary motor and sensory, Russe type, 605285 to Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
Hereditary Neuropathy v2.106 HINT1 Zornitza Stark Marked gene: HINT1 as ready
Hereditary Neuropathy v2.106 HINT1 Zornitza Stark Gene: hint1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.106 HEXB Zornitza Stark Marked gene: HEXB as ready
Hereditary Neuropathy v2.106 HEXB Zornitza Stark Gene: hexb has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.106 HEXB Zornitza Stark Phenotypes for gene: HEXB were changed from Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease to Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800)
Hereditary Neuropathy v2.105 HEXB Zornitza Stark Publications for gene: HEXB were set to
Hereditary Neuropathy v2.104 HARS1 Zornitza Stark Marked gene: HARS1 as ready
Hereditary Neuropathy v2.104 HARS1 Zornitza Stark Gene: hars1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.104 HARS1 Zornitza Stark Publications for gene: HARS1 were set to 26072516
Hereditary Neuropathy v2.103 GNB4 Zornitza Stark Marked gene: GNB4 as ready
Hereditary Neuropathy v2.103 GNB4 Zornitza Stark Gene: gnb4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Hereditary Neuropathy v2.103 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Hereditary Neuropathy v2.103 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 GBF1 Zornitza Stark Marked gene: GBF1 as ready
Hereditary Neuropathy v2.103 GBF1 Zornitza Stark Gene: gbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 GARS1 Zornitza Stark Marked gene: GARS1 as ready
Hereditary Neuropathy v2.103 GARS1 Zornitza Stark Gene: gars1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 CYP7B1 Zornitza Stark Marked gene: CYP7B1 as ready
Hereditary Neuropathy v2.103 CYP7B1 Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.103 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV to Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Hereditary Neuropathy v2.102 CYP7B1 Zornitza Stark Publications for gene: CYP7B1 were set to
Intellectual disability syndromic and non-syndromic v2.150 ZNF423 Zornitza Stark Classified gene: ZNF423 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v2.150 ZNF423 Zornitza Stark Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v2.85 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to 22863007
Fetal anomalies v2.84 ZNF423 Zornitza Stark Classified gene: ZNF423 as Green List (high evidence)
Fetal anomalies v2.84 ZNF423 Zornitza Stark Gene: znf423 has been classified as Green List (High Evidence).
Fetal anomalies v2.83 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Added comment: Biallelic association with nephronophthisis is MODERATE by ClinGen, with at least 7 individuals reported with 11 unique variants.; Changed rating: GREEN; Changed publications: 22863007, 26539891, 28454995, 33531950, 30076350, 31964843, 30868567; Changed phenotypes: Joubert syndrome 19, OMIM# 614844, Nephronophthisis 14, MIM# 614844
Mendeliome v2.615 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Joubert syndrome 19, OMIM# 614844; Nephronophthisis 14, MIM# 614844
Mendeliome v2.614 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to 22863007
Mendeliome v2.613 ZNF423 Zornitza Stark Classified gene: ZNF423 as Green List (high evidence)
Mendeliome v2.613 ZNF423 Zornitza Stark Gene: znf423 has been classified as Green List (High Evidence).
Mendeliome v2.612 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Added comment: Biallelic association with nephronophthisis is MODERATE by ClinGen, with at least 7 individuals reported with 11 unique variants.; Changed rating: GREEN; Changed publications: 22863007, 26539891, 28454995, 33531950, 30076350, 31964843, 30868567; Changed phenotypes: Joubert syndrome 19, OMIM# 614844, Nephronophthisis 14, MIM# 614844
Ciliopathies v2.21 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844; Nephronophthisis 14, OMIM:614844 to Joubert syndrome 19, OMIM# 614844; Nephronophthisis 14, MIM# 614844
Ciliopathies v2.20 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to 22863007
Ciliopathies v2.19 ZNF423 Zornitza Stark Classified gene: ZNF423 as Green List (high evidence)
Ciliopathies v2.19 ZNF423 Zornitza Stark Gene: znf423 has been classified as Green List (High Evidence).
Ciliopathies v2.18 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Added comment: Biallelic association with nephronophthisis is MODERATE by ClinGen, with at least 7 individuals reported with 11 unique variants.; Changed rating: GREEN; Changed publications: 22863007, 26539891, 28454995, 33531950, 30076350, 31964843, 30868567; Changed phenotypes: Joubert syndrome 19, OMIM# 614844, Nephronophthisis 14, MIM# 614844
Renal Ciliopathies and Nephronophthisis v2.5 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, OMIM# 614844 to Nephronophthisis 14, MIM# 614844
Renal Ciliopathies and Nephronophthisis v2.4 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to 22863007
Renal Ciliopathies and Nephronophthisis v2.3 ZNF423 Zornitza Stark Classified gene: ZNF423 as Green List (high evidence)
Renal Ciliopathies and Nephronophthisis v2.3 ZNF423 Zornitza Stark Gene: znf423 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v2.2 ZNF423 Zornitza Stark edited their review of gene: ZNF423: Added comment: Biallelic association with nephronophthisis is MODERATE by ClinGen, with at least 7 individuals reported with 11 unique variants.

The association with Joubert appears to be with mono allelic variants and has more limited evidence.; Changed rating: GREEN; Changed publications: 22863007, 22863007, 26539891, 28454995, 33531950, 30076350, 31964843, 30868567; Changed phenotypes: Nephronophthisis 14, MIM# 614844, Joubert syndrome 19, OMIM# 614844
Proteinuria v1.4 EMP2 Zornitza Stark Publications for gene: EMP2 were set to 24814193; 31508419
Proteinuria v1.3 EMP2 Zornitza Stark reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38338714; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v2.10 ADCY10 Zornitza Stark Marked gene: ADCY10 as ready
Renal Tubulopathies and related disorders v2.10 ADCY10 Zornitza Stark Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Renal Tubulopathies and related disorders v2.10 ADCY10 Zornitza Stark Publications for gene: ADCY10 were set to 11932268
Intellectual disability syndromic and non-syndromic v2.149 Richard Lin Copied gene LRP1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.149 LRP1 Richard Lin gene: LRP1 was added
gene: LRP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP1 were set to 26142438; 33776059; 36067312
Phenotypes for gene: LRP1 were set to Developmental dysplasia of the hip 3, MIM# 620690; Keratosis pilaris atrophicans MIM#604093
Mendeliome v2.612 LRP1 Richard Lin reviewed gene: LRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 42649465, 40374006, 36307211, 36067312, 33776059, 26142438; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, Syndromic disease, MONDO:0002254, developmental dysplasia of the hip 3, MONDO:0958037, keratosis pilaris atrophicans, MONDO:0018855, ?Keratosis pilaris atrophicans, MIM#604093, Developmental dysplasia of the hip 3, MIM#620690; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v2.10 MAP3K7 Carlos Smith-Diaz reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: 35730652, 40814318, 40909427, 35606766; Phenotypes: Dilated cardiomyopathy, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v2.10 MAP3K7 Carlos Smith-Diaz Deleted their review
Dilated Cardiomyopathy v2.10 MAP3K7 Carlos Smith-Diaz gene: MAP3K7 was added
gene: MAP3K7 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K7 were set to 35730652; 40814318; 40909427; 35606766; https://doi.org/10.64898/2026.09.02.26361780
Phenotypes for gene: MAP3K7 were set to Dilated cardiomyopathy; Cardiospondylocarpofacial syndrome
Penetrance for gene: MAP3K7 were set to unknown
Review for gene: MAP3K7 was set to GREEN
Added comment: Loss-of-function (LoF) variants in MAP3K7 cause cardiospondylocarpofacial syndrome (CSCF) a rare autosomal dominant developmental disorder comprising craniofacial, skeletal and congenital heart defects. Dilated cardiomyopathy (DCM) is sometimes observed in patients with a syndromic CSCF presentation (van Woerden et al. 2022, PMID: 35730652; Das et al. 2025, PMID: 40814318; Yan et al. 2025, PMID: 40909427, Schuermans et al. 2022, PMID: 35606766).

Recently, MAP3K7 variant specific LoF has also been shown to cause primary DCM in patients with subtle extracardiac features, suggesting that the clinical spectrum of MAP3K7 LoF ranges from classical CSCF to presentations characterised predominantly by DCM. Crucially, one rare LoF variant, c.374A>G, p.(Tyr125Cys), segregated to nine genotype-positive individuals with familial DCM. Although no family members had previously been recognised as syndromic, targeted clinical genetics assessment identified subtle craniofacial features in several affected individuals that overlapped with the CSCF spectrum.

MAP3K7 loss-of-function has been observed to cause both paediatric and adult-onset DCM and causative variants include missense variants and an in-frame deletion, within the kinase-domain, that decrease kinase activity (https://doi.org/10.64898/2026.09.02.26361780).

There is currently no reported evidence to suggest that DCM falls within the gain-of-function spectrum of MAP3K7-related disease (i.e., frontometaphyseal dysplasia). It is also currently unclear whether variants causing reduced gene dosage (i.e., NMD-compliant truncating variants) cause DCM.
Sources: Literature
Hereditary Neuropathy v2.101 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Hereditary Neuropathy v2.101 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v2.0 Zornitza Stark promoted panel to version 2.0
Cardiomyopathy_Paediatric v1.384 Zornitza Stark removed gene:TTC19 from the panel
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Marked gene: TMPO as ready
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Gene: tmpo has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.383 TMPO Zornitza Stark Phenotypes for gene: TMPO were changed from Dilated Cardiomyopathy, Dominant to Dilated cardiomyopathy, MONDO:0005021
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.382 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from Arrhythmogenic right ventricular dysplasia 1 to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Cardiomyopathy_Paediatric v1.381 Zornitza Stark Added reviews for gene TGFB3 from panel Arrhythmogenic Cardiomyopathy
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Marked gene: TCAP as ready
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.380 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N to Cardiomyopathy, hypertrophic, 25, MIM# 607487
Cardiomyopathy_Paediatric v1.379 TCAP Zornitza Stark Publications for gene: TCAP were set to 21530252; 23479141
Cardiomyopathy_Paediatric v1.378 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.377 TCAP Zornitza Stark Tag disputed tag was added to gene: TCAP.
Cardiomyopathy_Paediatric v1.377 Zornitza Stark removed gene:TACO1 from the panel
Cardiomyopathy_Paediatric v1.376 Zornitza Stark removed gene:SPRED1 from the panel
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Marked gene: NEBL as ready
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Gene: nebl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.375 NEBL Zornitza Stark Phenotypes for gene: NEBL were changed from to dilated cardiomyopathy MONDO:0005021, NEBL-related
Cardiomyopathy_Paediatric v1.374 NEBL Zornitza Stark Publications for gene: NEBL were set to
Cardiomyopathy_Paediatric v1.373 Zornitza Stark removed gene:NDUFAF8 from the panel
Cardiomyopathy_Paediatric v1.372 Zornitza Stark removed gene:NDUFAF6 from the panel
Cardiomyopathy_Paediatric v1.371 Zornitza Stark removed gene:NDUFA9 from the panel
Cardiomyopathy_Paediatric v1.370 Zornitza Stark removed gene:NDUFA6 from the panel
Cardiomyopathy_Paediatric v1.369 Zornitza Stark removed gene:LYRM7 from the panel
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Marked gene: ILK as ready
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.368 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to dilated cardiomyopathy MONDO:0005021, ILK-related
Cardiomyopathy_Paediatric v1.367 ILK Zornitza Stark Publications for gene: ILK were set to
Cardiomyopathy_Paediatric v1.366 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.365 Zornitza Stark Added reviews for gene ILK from panel Mendeliome
Mendeliome v2.612 ILK Zornitza Stark commented on gene: ILK: LIMITED by ClinGen.
Cardiomyopathy_Paediatric v1.364 Zornitza Stark removed gene:GNS from the panel
Cardiomyopathy_Paediatric v1.363 Zornitza Stark removed gene:GLRA1 from the panel
Cardiomyopathy_Paediatric v1.362 Zornitza Stark removed gene:GALNS from the panel
Cardiomyopathy_Paediatric v1.361 Zornitza Stark removed gene:ETFB from the panel
Cardiomyopathy_Paediatric v1.360 Zornitza Stark removed gene:ETFA from the panel
Intellectual disability syndromic and non-syndromic v2.148 ZNF713_FRA7A_CGG Zornitza Stark Marked STR: ZNF713_FRA7A_CGG as ready
Intellectual disability syndromic and non-syndromic v2.148 ZNF713_FRA7A_CGG Zornitza Stark Str: znf713_fra7a_cgg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.148 ZNF713_FRA7A_CGG Zornitza Stark Publications for STR: ZNF713_FRA7A_CGG were set to 25196122
Mendeliome v2.612 ZNF713_FRA7A_CGG Zornitza Stark Marked STR: ZNF713_FRA7A_CGG as ready
Mendeliome v2.612 ZNF713_FRA7A_CGG Zornitza Stark Str: znf713_fra7a_cgg has been classified as Amber List (Moderate Evidence).
Mendeliome v2.612 ZNF713_FRA7A_CGG Zornitza Stark Publications for STR: ZNF713_FRA7A_CGG were set to 25196122
Autism v1.20 ZNF713_FRA7A_CGG Zornitza Stark Marked STR: ZNF713_FRA7A_CGG as ready
Autism v1.20 ZNF713_FRA7A_CGG Zornitza Stark Str: znf713_fra7a_cgg has been classified as Amber List (Moderate Evidence).
Mendeliome v2.611 Zornitza Stark Copied STR ZNF713_FRA7A_CGG from panel Repeat Disorders
Mendeliome v2.611 ZNF713_FRA7A_CGG Zornitza Stark STR: ZNF713_FRA7A_CGG was added
STR: ZNF713_FRA7A_CGG was added to Mendeliome. Sources: Expert Review Amber,Literature
paediatric-onset tags were added to STR: ZNF713_FRA7A_CGG.
Mode of inheritance for STR: ZNF713_FRA7A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZNF713_FRA7A_CGG were set to 25196122
Phenotypes for STR: ZNF713_FRA7A_CGG were set to Autism spectrum disorder
Intellectual disability syndromic and non-syndromic v2.147 Zornitza Stark Copied STR ZNF713_FRA7A_CGG from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v2.147 ZNF713_FRA7A_CGG Zornitza Stark STR: ZNF713_FRA7A_CGG was added
STR: ZNF713_FRA7A_CGG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
paediatric-onset tags were added to STR: ZNF713_FRA7A_CGG.
Mode of inheritance for STR: ZNF713_FRA7A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZNF713_FRA7A_CGG were set to 25196122
Phenotypes for STR: ZNF713_FRA7A_CGG were set to Autism spectrum disorder
Autism v1.20 Zornitza Stark Copied STR ZNF713_FRA7A_CGG from panel Repeat Disorders
Autism v1.20 ZNF713_FRA7A_CGG Zornitza Stark STR: ZNF713_FRA7A_CGG was added
STR: ZNF713_FRA7A_CGG was added to Autism. Sources: Expert Review Amber,Literature
paediatric-onset tags were added to STR: ZNF713_FRA7A_CGG.
Mode of inheritance for STR: ZNF713_FRA7A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZNF713_FRA7A_CGG were set to 25196122
Phenotypes for STR: ZNF713_FRA7A_CGG were set to Autism spectrum disorder
Fetal anomalies v2.83 ZIC3_VACTERLX_GCC Zornitza Stark Marked STR: ZIC3_VACTERLX_GCC as ready
Fetal anomalies v2.83 ZIC3_VACTERLX_GCC Zornitza Stark Str: zic3_vacterlx_gcc has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v2.1 ZIC3_VACTERLX_GCC Zornitza Stark Marked STR: ZIC3_VACTERLX_GCC as ready
Radial Ray Abnormalities v2.1 ZIC3_VACTERLX_GCC Zornitza Stark Str: zic3_vacterlx_gcc has been classified as Red List (Low Evidence).
Mendeliome v2.610 ZIC3_VACTERLX_GCC Zornitza Stark Marked STR: ZIC3_VACTERLX_GCC as ready
Mendeliome v2.610 ZIC3_VACTERLX_GCC Zornitza Stark Str: zic3_vacterlx_gcc has been classified as Red List (Low Evidence).
Congenital Heart Defect v1.36 ZIC3_VACTERLX_GCC Zornitza Stark Marked STR: ZIC3_VACTERLX_GCC as ready
Congenital Heart Defect v1.36 ZIC3_VACTERLX_GCC Zornitza Stark Str: zic3_vacterlx_gcc has been classified as Red List (Low Evidence).
Radial Ray Abnormalities v2.1 Zornitza Stark Copied STR ZIC3_VACTERLX_GCC from panel Repeat Disorders
Radial Ray Abnormalities v2.1 ZIC3_VACTERLX_GCC Zornitza Stark STR: ZIC3_VACTERLX_GCC was added
STR: ZIC3_VACTERLX_GCC was added to Radial Ray Abnormalities. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: ZIC3_VACTERLX_GCC.
Mode of inheritance for STR: ZIC3_VACTERLX_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ZIC3_VACTERLX_GCC were set to 20452998; 32639022
Phenotypes for STR: ZIC3_VACTERLX_GCC were set to VACTERL association, X-linked MIM#314390
Mendeliome v2.610 Zornitza Stark Copied STR ZIC3_VACTERLX_GCC from panel Repeat Disorders
Mendeliome v2.610 ZIC3_VACTERLX_GCC Zornitza Stark STR: ZIC3_VACTERLX_GCC was added
STR: ZIC3_VACTERLX_GCC was added to Mendeliome. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: ZIC3_VACTERLX_GCC.
Mode of inheritance for STR: ZIC3_VACTERLX_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ZIC3_VACTERLX_GCC were set to 20452998; 32639022
Phenotypes for STR: ZIC3_VACTERLX_GCC were set to VACTERL association, X-linked MIM#314390
Fetal anomalies v2.83 Zornitza Stark Copied STR ZIC3_VACTERLX_GCC from panel Repeat Disorders
Fetal anomalies v2.83 ZIC3_VACTERLX_GCC Zornitza Stark STR: ZIC3_VACTERLX_GCC was added
STR: ZIC3_VACTERLX_GCC was added to Fetal anomalies. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: ZIC3_VACTERLX_GCC.
Mode of inheritance for STR: ZIC3_VACTERLX_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ZIC3_VACTERLX_GCC were set to 20452998; 32639022
Phenotypes for STR: ZIC3_VACTERLX_GCC were set to VACTERL association, X-linked MIM#314390
Congenital Heart Defect v1.36 Zornitza Stark Copied STR ZIC3_VACTERLX_GCC from panel Repeat Disorders
Congenital Heart Defect v1.36 ZIC3_VACTERLX_GCC Zornitza Stark STR: ZIC3_VACTERLX_GCC was added
STR: ZIC3_VACTERLX_GCC was added to Congenital Heart Defect. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: ZIC3_VACTERLX_GCC.
Mode of inheritance for STR: ZIC3_VACTERLX_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ZIC3_VACTERLX_GCC were set to 20452998; 32639022
Phenotypes for STR: ZIC3_VACTERLX_GCC were set to VACTERL association, X-linked MIM#314390
Incidentalome v1.48 ZFHX3_SCA4_GGC Zornitza Stark Marked STR: ZFHX3_SCA4_GGC as ready
Incidentalome v1.48 ZFHX3_SCA4_GGC Zornitza Stark Str: zfhx3_sca4_ggc has been classified as Green List (High Evidence).
Mendeliome v2.609 Zornitza Stark removed STR:ZFHX3_SCA4_GGC from the panel
Incidentalome v1.48 Zornitza Stark Copied STR ZFHX3_SCA4_GGC from panel Repeat Disorders
Incidentalome v1.48 ZFHX3_SCA4_GGC Zornitza Stark STR: ZFHX3_SCA4_GGC was added
STR: ZFHX3_SCA4_GGC was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for STR: ZFHX3_SCA4_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZFHX3_SCA4_GGC were set to 38035881; 38197134
Phenotypes for STR: ZFHX3_SCA4_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Genetic Epilepsy v2.46 YEATS2_FAME4_TTTCA Zornitza Stark Marked STR: YEATS2_FAME4_TTTCA as ready
Genetic Epilepsy v2.46 YEATS2_FAME4_TTTCA Zornitza Stark Str: yeats2_fame4_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.608 YEATS2_FAME4_TTTCA Zornitza Stark Marked STR: YEATS2_FAME4_TTTCA as ready
Mendeliome v2.608 YEATS2_FAME4_TTTCA Zornitza Stark Str: yeats2_fame4_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.608 Zornitza Stark Copied STR YEATS2_FAME4_TTTCA from panel Repeat Disorders
Mendeliome v2.608 YEATS2_FAME4_TTTCA Zornitza Stark STR: YEATS2_FAME4_TTTCA was added
STR: YEATS2_FAME4_TTTCA was added to Mendeliome. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: YEATS2_FAME4_TTTCA.
Mode of inheritance for STR: YEATS2_FAME4_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: YEATS2_FAME4_TTTCA were set to 31539032
Phenotypes for STR: YEATS2_FAME4_TTTCA were set to Epilepsy, myoclonic, familial adult, 4 MIM#615127
Genetic Epilepsy v2.46 Zornitza Stark Copied STR YEATS2_FAME4_TTTCA from panel Repeat Disorders
Genetic Epilepsy v2.46 YEATS2_FAME4_TTTCA Zornitza Stark STR: YEATS2_FAME4_TTTCA was added
STR: YEATS2_FAME4_TTTCA was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: YEATS2_FAME4_TTTCA.
Mode of inheritance for STR: YEATS2_FAME4_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: YEATS2_FAME4_TTTCA were set to 31539032
Phenotypes for STR: YEATS2_FAME4_TTTCA were set to Epilepsy, myoclonic, familial adult, 4 MIM#615127
Mendeliome v2.607 TYMS_CPUM_ACCATC Zornitza Stark Marked STR: TYMS_CPUM_ACCATC as ready
Mendeliome v2.607 TYMS_CPUM_ACCATC Zornitza Stark Str: tyms_cpum_accatc has been classified as Red List (Low Evidence).
Mendeliome v2.607 Zornitza Stark Copied STR TYMS_CPUM_ACCATC from panel Repeat Disorders
Mendeliome v2.607 TYMS_CPUM_ACCATC Zornitza Stark STR: TYMS_CPUM_ACCATC was added
STR: TYMS_CPUM_ACCATC was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for STR: TYMS_CPUM_ACCATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: TYMS_CPUM_ACCATC were set to 40589716
Phenotypes for STR: TYMS_CPUM_ACCATC were set to Congenital progressive universal melanosis MONDO:0013648
Genetic Epilepsy v2.45 TNRC6A_FAME6_TTTCA Zornitza Stark Marked STR: TNRC6A_FAME6_TTTCA as ready
Genetic Epilepsy v2.45 TNRC6A_FAME6_TTTCA Zornitza Stark Str: tnrc6a_fame6_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark Marked STR: TNRC6A_FAME6_TTTCA as ready
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark Str: tnrc6a_fame6_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.606 Zornitza Stark Copied STR TNRC6A_FAME6_TTTCA from panel Repeat Disorders
Mendeliome v2.606 TNRC6A_FAME6_TTTCA Zornitza Stark STR: TNRC6A_FAME6_TTTCA was added
STR: TNRC6A_FAME6_TTTCA was added to Mendeliome. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: TNRC6A_FAME6_TTTCA.
Mode of inheritance for STR: TNRC6A_FAME6_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TNRC6A_FAME6_TTTCA were set to 29507423
Phenotypes for STR: TNRC6A_FAME6_TTTCA were set to Epilepsy, familial adult myoclonic, 6 MIM#618074
Genetic Epilepsy v2.45 Zornitza Stark Copied STR TNRC6A_FAME6_TTTCA from panel Repeat Disorders
Genetic Epilepsy v2.45 TNRC6A_FAME6_TTTCA Zornitza Stark STR: TNRC6A_FAME6_TTTCA was added
STR: TNRC6A_FAME6_TTTCA was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: TNRC6A_FAME6_TTTCA.
Mode of inheritance for STR: TNRC6A_FAME6_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TNRC6A_FAME6_TTTCA were set to 29507423
Phenotypes for STR: TNRC6A_FAME6_TTTCA were set to Epilepsy, familial adult myoclonic, 6 MIM#618074
Intellectual disability syndromic and non-syndromic v2.146 TMEM185A_FRAXF_GCC Zornitza Stark Marked STR: TMEM185A_FRAXF_GCC as ready
Intellectual disability syndromic and non-syndromic v2.146 TMEM185A_FRAXF_GCC Zornitza Stark Str: tmem185a_fraxf_gcc has been classified as Red List (Low Evidence).
Mendeliome v2.605 TMEM185A_FRAXF_GCC Zornitza Stark Marked STR: TMEM185A_FRAXF_GCC as ready
Mendeliome v2.605 TMEM185A_FRAXF_GCC Zornitza Stark Str: tmem185a_fraxf_gcc has been classified as Red List (Low Evidence).
Mendeliome v2.605 Zornitza Stark Copied STR TMEM185A_FRAXF_GCC from panel Repeat Disorders
Mendeliome v2.605 TMEM185A_FRAXF_GCC Zornitza Stark STR: TMEM185A_FRAXF_GCC was added
STR: TMEM185A_FRAXF_GCC was added to Mendeliome. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: TMEM185A_FRAXF_GCC.
Mode of inheritance for STR: TMEM185A_FRAXF_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TMEM185A_FRAXF_GCC were set to 7874164; 10094554; 8651274
Phenotypes for STR: TMEM185A_FRAXF_GCC were set to Intellectual disability
Intellectual disability syndromic and non-syndromic v2.146 Zornitza Stark Copied STR TMEM185A_FRAXF_GCC from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v2.146 TMEM185A_FRAXF_GCC Zornitza Stark STR: TMEM185A_FRAXF_GCC was added
STR: TMEM185A_FRAXF_GCC was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: TMEM185A_FRAXF_GCC.
Mode of inheritance for STR: TMEM185A_FRAXF_GCC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TMEM185A_FRAXF_GCC were set to 7874164; 10094554; 8651274
Phenotypes for STR: TMEM185A_FRAXF_GCC were set to Intellectual disability
Incidentalome v1.47 THAP11_SCA51_CAG Zornitza Stark Marked STR: THAP11_SCA51_CAG as ready
Incidentalome v1.47 THAP11_SCA51_CAG Zornitza Stark Str: thap11_sca51_cag has been classified as Amber List (Moderate Evidence).
Incidentalome v1.47 Zornitza Stark Copied STR THAP11_SCA51_CAG from panel Repeat Disorders
Incidentalome v1.47 THAP11_SCA51_CAG Zornitza Stark STR: THAP11_SCA51_CAG was added
STR: THAP11_SCA51_CAG was added to Incidentalome. Sources: Expert Review Amber,Other
Mode of inheritance for STR: THAP11_SCA51_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 40459937; 39651830; 37148549
Phenotypes for STR: THAP11_SCA51_CAG were set to Spinocerebellar ataxia 51 MONDO:0975800
Fetal anomalies v2.82 TBX1_TOF_GCN Zornitza Stark Marked STR: TBX1_TOF_GCN as ready
Fetal anomalies v2.82 TBX1_TOF_GCN Zornitza Stark Str: tbx1_tof_gcn has been classified as Green List (High Evidence).
Fetal anomalies v2.82 Zornitza Stark Copied STR TBX1_TOF_GCN from panel Repeat Disorders
Fetal anomalies v2.82 TBX1_TOF_GCN Zornitza Stark STR: TBX1_TOF_GCN was added
STR: TBX1_TOF_GCN was added to Fetal anomalies. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: TBX1_TOF_GCN.
Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311
Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500
Incidentalome v1.46 TBP_SCA17_CAG Zornitza Stark Marked STR: TBP_SCA17_CAG as ready
Incidentalome v1.46 TBP_SCA17_CAG Zornitza Stark Str: tbp_sca17_cag has been classified as Green List (High Evidence).
Mendeliome v2.604 Zornitza Stark removed STR:TBP_SCA17_CAG from the panel
Incidentalome v1.46 Zornitza Stark Copied STR TBP_SCA17_CAG from panel Repeat Disorders
Incidentalome v1.46 TBP_SCA17_CAG Zornitza Stark STR: TBP_SCA17_CAG was added
STR: TBP_SCA17_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: TBP_SCA17_CAG.
Mode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606
Phenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136
Incidentalome v1.45 TBC1D7_OPDM_CGG Zornitza Stark Marked STR: TBC1D7_OPDM_CGG as ready
Incidentalome v1.45 TBC1D7_OPDM_CGG Zornitza Stark Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence).
Incidentalome v1.45 Zornitza Stark Copied STR TBC1D7_OPDM_CGG from panel Repeat Disorders
Incidentalome v1.45 TBC1D7_OPDM_CGG Zornitza Stark STR: TBC1D7_OPDM_CGG was added
STR: TBC1D7_OPDM_CGG was added to Incidentalome. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: TBC1D7_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBC1D7_OPDM_CGG were set to 41959811
Phenotypes for STR: TBC1D7_OPDM_CGG were set to Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193
Incidentalome v1.44 TAF1_XDP_CCCTCT Zornitza Stark Marked STR: TAF1_XDP_CCCTCT as ready
Incidentalome v1.44 TAF1_XDP_CCCTCT Zornitza Stark Str: taf1_xdp_ccctct has been classified as Green List (High Evidence).
Mendeliome v2.603 Zornitza Stark removed STR:TAF1_XDP_CCCTCT from the panel
Incidentalome v1.44 Zornitza Stark Copied STR TAF1_XDP_CCCTCT from panel Repeat Disorders
Incidentalome v1.44 TAF1_XDP_CCCTCT Zornitza Stark STR: TAF1_XDP_CCCTCT was added
STR: TAF1_XDP_CCCTCT was added to Incidentalome. Sources: Expert Review Green,Expert list
founder, adult-onset tags were added to STR: TAF1_XDP_CCCTCT.
Mode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810
Phenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250
Genetic Epilepsy v2.44 SAMD12_FAME1_TTTGA Zornitza Stark Marked STR: SAMD12_FAME1_TTTGA as ready
Genetic Epilepsy v2.44 SAMD12_FAME1_TTTGA Zornitza Stark Str: samd12_fame1_tttga has been classified as Red List (Low Evidence).
Mendeliome v2.602 SAMD12_FAME1_TTTGA Zornitza Stark Marked STR: SAMD12_FAME1_TTTGA as ready
Mendeliome v2.602 SAMD12_FAME1_TTTGA Zornitza Stark Str: samd12_fame1_tttga has been classified as Red List (Low Evidence).
Mendeliome v2.602 Zornitza Stark Copied STR SAMD12_FAME1_TTTGA from panel Repeat Disorders
Mendeliome v2.602 SAMD12_FAME1_TTTGA Zornitza Stark STR: SAMD12_FAME1_TTTGA was added
STR: SAMD12_FAME1_TTTGA was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for STR: SAMD12_FAME1_TTTGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SAMD12_FAME1_TTTGA were set to 31483537
Phenotypes for STR: SAMD12_FAME1_TTTGA were set to familial cortical myoclonic tremor with epilepsy
Genetic Epilepsy v2.44 Zornitza Stark Copied STR SAMD12_FAME1_TTTGA from panel Repeat Disorders
Genetic Epilepsy v2.44 SAMD12_FAME1_TTTGA Zornitza Stark STR: SAMD12_FAME1_TTTGA was added
STR: SAMD12_FAME1_TTTGA was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for STR: SAMD12_FAME1_TTTGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SAMD12_FAME1_TTTGA were set to 31483537
Phenotypes for STR: SAMD12_FAME1_TTTGA were set to familial cortical myoclonic tremor with epilepsy
Skeletal dysplasia v1.152 RUNX2_CCD_GCN Zornitza Stark Marked STR: RUNX2_CCD_GCN as ready
Skeletal dysplasia v1.152 RUNX2_CCD_GCN Zornitza Stark Str: runx2_ccd_gcn has been classified as Amber List (Moderate Evidence).
Mendeliome v2.601 RUNX2_CCD_GCN Zornitza Stark Marked STR: RUNX2_CCD_GCN as ready
Mendeliome v2.601 RUNX2_CCD_GCN Zornitza Stark Str: runx2_ccd_gcn has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.152 Zornitza Stark Copied STR RUNX2_CCD_GCN from panel Repeat Disorders
Skeletal dysplasia v1.152 RUNX2_CCD_GCN Zornitza Stark STR: RUNX2_CCD_GCN was added
STR: RUNX2_CCD_GCN was added to Skeletal dysplasia. Sources: Expert Review Amber,Expert list
paediatric-onset tags were added to STR: RUNX2_CCD_GCN.
Mode of inheritance for STR: RUNX2_CCD_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RUNX2_CCD_GCN were set to 9182765; 33811808; 20560987; 26220009; 25852448
Phenotypes for STR: RUNX2_CCD_GCN were set to Cleidocranial dysplasia MIM#119600
Mendeliome v2.601 Zornitza Stark Copied STR RUNX2_CCD_GCN from panel Repeat Disorders
Mendeliome v2.601 RUNX2_CCD_GCN Zornitza Stark STR: RUNX2_CCD_GCN was added
STR: RUNX2_CCD_GCN was added to Mendeliome. Sources: Expert Review Amber,Expert list
paediatric-onset tags were added to STR: RUNX2_CCD_GCN.
Mode of inheritance for STR: RUNX2_CCD_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RUNX2_CCD_GCN were set to 9182765; 33811808; 20560987; 26220009; 25852448
Phenotypes for STR: RUNX2_CCD_GCN were set to Cleidocranial dysplasia MIM#119600
Incidentalome v1.43 RILPL1_OPDM4_CGG Zornitza Stark Marked STR: RILPL1_OPDM4_CGG as ready
Incidentalome v1.43 RILPL1_OPDM4_CGG Zornitza Stark Str: rilpl1_opdm4_cgg has been classified as Green List (High Evidence).
Mendeliome v2.600 Zornitza Stark removed STR:RILPL1_OPDM4_CGG from the panel
Incidentalome v1.43 Zornitza Stark Copied STR RILPL1_OPDM4_CGG from panel Repeat Disorders
Incidentalome v1.43 RILPL1_OPDM4_CGG Zornitza Stark STR: RILPL1_OPDM4_CGG was added
STR: RILPL1_OPDM4_CGG was added to Incidentalome. Sources: Expert Review Green,Literature
adult-onset tags were added to STR: RILPL1_OPDM4_CGG.
Mode of inheritance for STR: RILPL1_OPDM4_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RILPL1_OPDM4_CGG were set to 35148830; 35700120
Phenotypes for STR: RILPL1_OPDM4_CGG were set to Oculopharyngodistal myopathy MONDO:0025193
Repeat Disorders v1.15 RILPL1_OPDM4_CGG Zornitza Stark Tag adult-onset tag was added to STR: RILPL1_OPDM4_CGG.
Incidentalome v1.42 RFC1_CANVAS_ANNGN Zornitza Stark Marked STR: RFC1_CANVAS_ANNGN as ready
Incidentalome v1.42 RFC1_CANVAS_ANNGN Zornitza Stark Str: rfc1_canvas_anngn has been classified as Green List (High Evidence).
Mendeliome v2.599 Zornitza Stark removed STR:RFC1_CANVAS_ANNGN from the panel
Incidentalome v1.42 Zornitza Stark Copied STR RFC1_CANVAS_ANNGN from panel Repeat Disorders
Incidentalome v1.42 RFC1_CANVAS_ANNGN Zornitza Stark STR: RFC1_CANVAS_ANNGN was added
STR: RFC1_CANVAS_ANNGN was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: RFC1_CANVAS_ANNGN.
Mode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: RFC1_CANVAS_ANNGN were set to 30926972; 32851396; 33237689; 31230722; 33237689; 32694621; 33103729; 35355059
Phenotypes for STR: RFC1_CANVAS_ANNGN were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Genetic Epilepsy v2.43 RAI1_FAME8_TTTCA Zornitza Stark Marked STR: RAI1_FAME8_TTTCA as ready
Genetic Epilepsy v2.43 RAI1_FAME8_TTTCA Zornitza Stark Str: rai1_fame8_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.598 RAI1_FAME8_TTTCA Zornitza Stark Marked STR: RAI1_FAME8_TTTCA as ready
Mendeliome v2.598 RAI1_FAME8_TTTCA Zornitza Stark Str: rai1_fame8_tttca has been classified as Red List (Low Evidence).
Mendeliome v2.598 Zornitza Stark Copied STR RAI1_FAME8_TTTCA from panel Repeat Disorders
Mendeliome v2.598 RAI1_FAME8_TTTCA Zornitza Stark STR: RAI1_FAME8_TTTCA was added
STR: RAI1_FAME8_TTTCA was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RAI1_FAME8_TTTCA were set to 37994247
Phenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448
Genetic Epilepsy v2.43 Zornitza Stark Copied STR RAI1_FAME8_TTTCA from panel Repeat Disorders
Genetic Epilepsy v2.43 RAI1_FAME8_TTTCA Zornitza Stark STR: RAI1_FAME8_TTTCA was added
STR: RAI1_FAME8_TTTCA was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: RAI1_FAME8_TTTCA were set to 37994247
Phenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448
Incidentalome v1.41 PRNP_CJD_octapeptide Zornitza Stark Marked STR: PRNP_CJD_octapeptide as ready
Incidentalome v1.41 PRNP_CJD_octapeptide Zornitza Stark Str: prnp_cjd_octapeptide has been classified as Green List (High Evidence).
Incidentalome v1.41 Zornitza Stark Copied STR PRNP_CJD_octapeptide from panel Repeat Disorders
Incidentalome v1.41 PRNP_CJD_octapeptide Zornitza Stark STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PRNP_CJD_octapeptide.
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Incidentalome v1.40 PPP2R2B_SCA12_CAG Zornitza Stark Marked STR: PPP2R2B_SCA12_CAG as ready
Incidentalome v1.40 PPP2R2B_SCA12_CAG Zornitza Stark Str: ppp2r2b_sca12_cag has been classified as Green List (High Evidence).
Mendeliome v2.597 Zornitza Stark removed STR:PPP2R2B_SCA12_CAG from the panel
Incidentalome v1.40 Zornitza Stark Copied STR PPP2R2B_SCA12_CAG from panel Repeat Disorders
Incidentalome v1.40 PPP2R2B_SCA12_CAG Zornitza Stark STR: PPP2R2B_SCA12_CAG was added
STR: PPP2R2B_SCA12_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: PPP2R2B_SCA12_CAG.
Mode of inheritance for STR: PPP2R2B_SCA12_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PPP2R2B_SCA12_CAG were set to 27864267; 33811808; 10581021
Phenotypes for STR: PPP2R2B_SCA12_CAG were set to Spinocerebellar ataxia 12 MIM#604326
Incidentalome v1.39 PLIN4_MRUPAV_33-mer Zornitza Stark Marked STR: PLIN4_MRUPAV_33-mer as ready
Incidentalome v1.39 PLIN4_MRUPAV_33-mer Zornitza Stark Str: plin4_mrupav_33-mer has been classified as Green List (High Evidence).
Mendeliome v2.596 Zornitza Stark removed STR:PLIN4_MRUPAV_33-mer from the panel
Incidentalome v1.39 Zornitza Stark Copied STR PLIN4_MRUPAV_33-mer from panel Repeat Disorders
Incidentalome v1.39 PLIN4_MRUPAV_33-mer Zornitza Stark STR: PLIN4_MRUPAV_33-mer was added
STR: PLIN4_MRUPAV_33-mer was added to Incidentalome. Sources: Expert Review Green,Literature
adult-onset tags were added to STR: PLIN4_MRUPAV_33-mer.
Mode of inheritance for STR: PLIN4_MRUPAV_33-mer was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PLIN4_MRUPAV_33-mer were set to 32451610; 37145156; 36151849; 35499779
Phenotypes for STR: PLIN4_MRUPAV_33-mer were set to myopathy, distal, with rimmed vacuoles MONDO:0014945
Incidentalome v1.38 PABPN1_OPMD_GCN Zornitza Stark Marked STR: PABPN1_OPMD_GCN as ready
Incidentalome v1.38 PABPN1_OPMD_GCN Zornitza Stark Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence).
Mendeliome v2.595 Zornitza Stark removed STR:PABPN1_OPMD_GCN from the panel
Incidentalome v1.38 Zornitza Stark Copied STR PABPN1_OPMD_GCN from panel Repeat Disorders
Incidentalome v1.38 PABPN1_OPMD_GCN Zornitza Stark STR: PABPN1_OPMD_GCN was added
STR: PABPN1_OPMD_GCN was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PABPN1_OPMD_GCN.
Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305
Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300
Incidentalome v1.37 Zornitza Stark removed STR:PABPN1_OPMD_GCN from the panel
Incidentalome v1.36 Zornitza Stark Copied STR PABPN1_OPMD_GCN from panel Mendeliome
Incidentalome v1.36 PABPN1_OPMD_GCN Zornitza Stark STR: PABPN1_OPMD_GCN was added
STR: PABPN1_OPMD_GCN was added to Incidentalome. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list
adult-onset tags were added to STR: PABPN1_OPMD_GCN.
Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305
Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300
Incidentalome v1.35 NOTCH2NLC_NIID_GGC Zornitza Stark Marked STR: NOTCH2NLC_NIID_GGC as ready
Incidentalome v1.35 NOTCH2NLC_NIID_GGC Zornitza Stark Str: notch2nlc_niid_ggc has been classified as Green List (High Evidence).
Incidentalome v1.35 NUTM2B-AS1_OPDM_CCG Zornitza Stark Marked STR: NUTM2B-AS1_OPDM_CCG as ready
Incidentalome v1.35 NUTM2B-AS1_OPDM_CCG Zornitza Stark Str: nutm2b-as1_opdm_ccg has been classified as Green List (High Evidence).
Incidentalome v1.35 NUTM2B-AS1_OPDM_CCG Zornitza Stark Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380
Mendeliome v2.594 Zornitza Stark removed STR:NUTM2B-AS1_OPDM_CCG from the panel
Incidentalome v1.34 Zornitza Stark Copied STR NUTM2B-AS1_OPDM_CCG from panel Repeat Disorders
Incidentalome v1.34 NUTM2B-AS1_OPDM_CCG Zornitza Stark STR: NUTM2B-AS1_OPDM_CCG was added
STR: NUTM2B-AS1_OPDM_CCG was added to Incidentalome. Sources: Expert Review Green,Literature
adult-onset tags were added to STR: NUTM2B-AS1_OPDM_CCG.
Mode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380
Phenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
Mendeliome v2.593 Zornitza Stark removed STR:NOTCH2NLC_NIID_GGC from the panel
Incidentalome v1.33 Zornitza Stark Copied STR NOTCH2NLC_NIID_GGC from panel Repeat Disorders
Incidentalome v1.33 NOTCH2NLC_NIID_GGC Zornitza Stark STR: NOTCH2NLC_NIID_GGC was added
STR: NOTCH2NLC_NIID_GGC was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: NOTCH2NLC_NIID_GGC.
Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Incidentalome v1.32 NOP56_SCA36_GGCCTG Zornitza Stark Marked STR: NOP56_SCA36_GGCCTG as ready
Incidentalome v1.32 NOP56_SCA36_GGCCTG Zornitza Stark Str: nop56_sca36_ggcctg has been classified as Green List (High Evidence).
Incidentalome v1.32 Zornitza Stark Copied STR NOP56_SCA36_GGCCTG from panel Repeat Disorders
Incidentalome v1.32 NOP56_SCA36_GGCCTG Zornitza Stark STR: NOP56_SCA36_GGCCTG was added
STR: NOP56_SCA36_GGCCTG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: NOP56_SCA36_GGCCTG.
Mode of inheritance for STR: NOP56_SCA36_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOP56_SCA36_GGCCTG were set to 21683323
Phenotypes for STR: NOP56_SCA36_GGCCTG were set to Spinocerebellar ataxia 36 MIM#614153
Motor Neurone Disease v2.12 NIPA1_ALS_GCG Zornitza Stark reviewed STR: NIPA1_ALS_GCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v1.31 NIPA1_ALS_GCG Zornitza Stark Marked STR: NIPA1_ALS_GCG as ready
Incidentalome v1.31 NIPA1_ALS_GCG Zornitza Stark Str: nipa1_als_gcg has been classified as Red List (Low Evidence).
Incidentalome v1.31 NIPA1_ALS_GCG Zornitza Stark reviewed STR: NIPA1_ALS_GCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v2.12 NIPA1_ALS_GCG Zornitza Stark Marked STR: NIPA1_ALS_GCG as ready
Motor Neurone Disease v2.12 NIPA1_ALS_GCG Zornitza Stark Str: nipa1_als_gcg has been classified as Red List (Low Evidence).
Motor Neurone Disease v2.12 Zornitza Stark Copied STR NIPA1_ALS_GCG from panel Repeat Disorders
Motor Neurone Disease v2.12 NIPA1_ALS_GCG Zornitza Stark STR: NIPA1_ALS_GCG was added
STR: NIPA1_ALS_GCG was added to Motor Neurone Disease. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: NIPA1_ALS_GCG.
Mode of inheritance for STR: NIPA1_ALS_GCG was set to Unknown
Publications for STR: NIPA1_ALS_GCG were set to 30342764; 22378146
Phenotypes for STR: NIPA1_ALS_GCG were set to Amyotrophic lateral sclerosis
Incidentalome v1.31 Zornitza Stark Copied STR NIPA1_ALS_GCG from panel Repeat Disorders
Incidentalome v1.31 NIPA1_ALS_GCG Zornitza Stark STR: NIPA1_ALS_GCG was added
STR: NIPA1_ALS_GCG was added to Incidentalome. Sources: Expert Review Red,Literature
adult-onset tags were added to STR: NIPA1_ALS_GCG.
Mode of inheritance for STR: NIPA1_ALS_GCG was set to Unknown
Publications for STR: NIPA1_ALS_GCG were set to 30342764; 22378146
Phenotypes for STR: NIPA1_ALS_GCG were set to Amyotrophic lateral sclerosis
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.10 NEB Sarah Milton Mode of inheritance for gene: NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.9 Sarah Milton Added reviews for gene NEB from panel Mendeliome
Mendeliome v2.592 NEB Sarah Milton Mode of inheritance for gene: NEB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.591 NEB Sarah Milton Mode of inheritance for gene: NEB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.590 NEB Sarah Milton reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40517164, 33933294, 30679003; Phenotypes: autosomal dominant nebulin-related myopathy, MONDO:1010152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.590 Zornitza Stark removed gene:NOP56 from the panel
Mendeliome v2.589 Zornitza Stark removed STR:NOP56_SCA36_GGCCTG from the panel
Mendeliome v2.588 POU3F4 upstream regulatory region Sarah Milton edited their review of Region: POU3F4 upstream regulatory region: Changed rating: GREEN
Leukodystrophy v1.10 NAXE_NME_GGGCC Zornitza Stark Marked STR: NAXE_NME_GGGCC as ready
Leukodystrophy v1.10 NAXE_NME_GGGCC Zornitza Stark Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).
Mendeliome v2.588 NAXE_NME_GGGCC Zornitza Stark Marked STR: NAXE_NME_GGGCC as ready
Mendeliome v2.588 NAXE_NME_GGGCC Zornitza Stark Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).
Mendeliome v2.588 Zornitza Stark Copied STR NAXE_NME_GGGCC from panel Repeat Disorders
Mendeliome v2.588 NAXE_NME_GGGCC Zornitza Stark STR: NAXE_NME_GGGCC was added
STR: NAXE_NME_GGGCC was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: NAXE_NME_GGGCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: NAXE_NME_GGGCC were set to 39455596
Phenotypes for STR: NAXE_NME_GGGCC were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781
Leukodystrophy v1.10 Zornitza Stark Copied STR NAXE_NME_GGGCC from panel Repeat Disorders
Leukodystrophy v1.10 NAXE_NME_GGGCC Zornitza Stark STR: NAXE_NME_GGGCC was added
STR: NAXE_NME_GGGCC was added to Leukodystrophy. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: NAXE_NME_GGGCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: NAXE_NME_GGGCC were set to 39455596
Phenotypes for STR: NAXE_NME_GGGCC were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781
Incidentalome v1.30 LRP12_ALS_CGG Zornitza Stark Marked STR: LRP12_ALS_CGG as ready
Incidentalome v1.30 LRP12_ALS_CGG Zornitza Stark Str: lrp12_als_cgg has been classified as Green List (High Evidence).
Incidentalome v1.30 Zornitza Stark Copied STR LRP12_ALS_CGG from panel Motor Neurone Disease
Incidentalome v1.30 LRP12_ALS_CGG Zornitza Stark STR: LRP12_ALS_CGG was added
STR: LRP12_ALS_CGG was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for STR: LRP12_ALS_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12_ALS_CGG were set to 37339631
Phenotypes for STR: LRP12_ALS_CGG were set to Amyotrophic lateral sclerosis MONDO:0004976; Amyotrophic lateral sclerosis 28, MIM# 620452
Incidentalome v1.29 JPH3_HDL2_CTG Zornitza Stark Marked STR: JPH3_HDL2_CTG as ready
Incidentalome v1.29 JPH3_HDL2_CTG Zornitza Stark Str: jph3_hdl2_ctg has been classified as Green List (High Evidence).
Mendeliome v2.587 Zornitza Stark removed STR:JPH3_HDL2_CTG from the panel
Incidentalome v1.29 Zornitza Stark Copied STR JPH3_HDL2_CTG from panel Repeat Disorders
Incidentalome v1.29 JPH3_HDL2_CTG Zornitza Stark STR: JPH3_HDL2_CTG was added
STR: JPH3_HDL2_CTG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: JPH3_HDL2_CTG.
Mode of inheritance for STR: JPH3_HDL2_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: JPH3_HDL2_CTG were set to 11558794; 20301701
Phenotypes for STR: JPH3_HDL2_CTG were set to Huntington disease-like 2 MIM#606438
Incidentalome v1.28 HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT Zornitza Stark Marked STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT as ready
Incidentalome v1.28 HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT Zornitza Stark Str: hsf1_et_ccccgcnccgcct_ccncgcct has been classified as Green List (High Evidence).
Mendeliome v2.586 Zornitza Stark removed STR:HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT from the panel
Incidentalome v1.28 Zornitza Stark Copied STR HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT from panel Repeat Disorders
Incidentalome v1.28 HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT Zornitza Stark STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT was added
STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT was added to Incidentalome. Sources: Literature,Expert Review Green,Expert Review Green,Literature
Mode of inheritance for STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT were set to 40581632
Phenotypes for STR: HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT were set to Essential tremor, MONDO:0003233
Hand and foot malformations v1.12 HOXA13_HFGS_GCN2 Zornitza Stark Marked STR: HOXA13_HFGS_GCN2 as ready
Hand and foot malformations v1.12 HOXA13_HFGS_GCN2 Zornitza Stark Str: hoxa13_hfgs_gcn2 has been classified as Green List (High Evidence).
Mendeliome v2.585 HOXA13_HFGS_GCN2 Zornitza Stark Marked STR: HOXA13_HFGS_GCN2 as ready
Mendeliome v2.585 HOXA13_HFGS_GCN2 Zornitza Stark Str: hoxa13_hfgs_gcn2 has been classified as Green List (High Evidence).
Mendeliome v2.585 Zornitza Stark Copied STR HOXA13_HFGS_GCN2 from panel Repeat Disorders
Mendeliome v2.585 HOXA13_HFGS_GCN2 Zornitza Stark STR: HOXA13_HFGS_GCN2 was added
STR: HOXA13_HFGS_GCN2 was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN2.
Mode of inheritance for STR: HOXA13_HFGS_GCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN2 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN2 were set to Hand-foot-uterus syndrome MIM#140000
Hand and foot malformations v1.12 Zornitza Stark Copied STR HOXA13_HFGS_GCN2 from panel Repeat Disorders
Hand and foot malformations v1.12 HOXA13_HFGS_GCN2 Zornitza Stark STR: HOXA13_HFGS_GCN2 was added
STR: HOXA13_HFGS_GCN2 was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN2.
Mode of inheritance for STR: HOXA13_HFGS_GCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN2 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN2 were set to Hand-foot-uterus syndrome MIM#140000
Fetal anomalies v2.81 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Fetal anomalies v2.81 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Hand and foot malformations v1.11 HOXA13_HFGS_GCN1 Zornitza Stark Marked STR: HOXA13_HFGS_GCN1 as ready
Hand and foot malformations v1.11 HOXA13_HFGS_GCN1 Zornitza Stark Str: hoxa13_hfgs_gcn1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.151 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Skeletal dysplasia v1.151 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v2.0 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Radial Ray Abnormalities v2.0 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Polydactyly v1.20 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Polydactyly v1.20 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Mendeliome v2.584 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Mendeliome v2.584 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Differences of Sex Development v2.8 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Differences of Sex Development v2.8 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.13 HOXA13_HFGS_GCN3 Zornitza Stark Marked STR: HOXA13_HFGS_GCN3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.13 HOXA13_HFGS_GCN3 Zornitza Stark Str: hoxa13_hfgs_gcn3 has been classified as Green List (High Evidence).
Mendeliome v2.584 HOXA13_HFGS_GCN1 Zornitza Stark Marked STR: HOXA13_HFGS_GCN1 as ready
Mendeliome v2.584 HOXA13_HFGS_GCN1 Zornitza Stark Str: hoxa13_hfgs_gcn1 has been classified as Green List (High Evidence).
Mendeliome v2.584 Zornitza Stark Copied STR HOXA13_HFGS_GCN1 from panel Repeat Disorders
Mendeliome v2.584 HOXA13_HFGS_GCN1 Zornitza Stark STR: HOXA13_HFGS_GCN1 was added
STR: HOXA13_HFGS_GCN1 was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN1.
Mode of inheritance for STR: HOXA13_HFGS_GCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN1 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN1 were set to Hand-foot-uterus syndrome MIM#140000
Hand and foot malformations v1.11 Zornitza Stark Copied STR HOXA13_HFGS_GCN1 from panel Repeat Disorders
Hand and foot malformations v1.11 HOXA13_HFGS_GCN1 Zornitza Stark STR: HOXA13_HFGS_GCN1 was added
STR: HOXA13_HFGS_GCN1 was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN1.
Mode of inheritance for STR: HOXA13_HFGS_GCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN1 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN1 were set to Hand-foot-uterus syndrome MIM#140000
Mendeliome v2.583 Zornitza Stark removed STR:FXN_FRDA_GAA from the panel
Incidentalome v1.27 Zornitza Stark Copied STR FXN_FRDA_GAA from panel Repeat Disorders
Incidentalome v1.27 FXN_FRDA_GAA Zornitza Stark STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Incidentalome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Incidentalome v1.26 FMR1_FXTAS_CGG Zornitza Stark Marked STR: FMR1_FXTAS_CGG as ready
Incidentalome v1.26 FMR1_FXTAS_CGG Zornitza Stark Str: fmr1_fxtas_cgg has been classified as Green List (High Evidence).
Incidentalome v1.26 Zornitza Stark Copied STR FMR1_FXTAS_CGG from panel Repeat Disorders
Incidentalome v1.26 FMR1_FXTAS_CGG Zornitza Stark STR: FMR1_FXTAS_CGG was added
STR: FMR1_FXTAS_CGG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: FMR1_FXTAS_CGG.
Mode of inheritance for STR: FMR1_FXTAS_CGG 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 STR: FMR1_FXTAS_CGG were set to 23765048; 25227148; 11445641
Phenotypes for STR: FMR1_FXTAS_CGG were set to Fragile X tremor/ataxia syndrome MIM#300623
Mendeliome v2.582 FMR1_FXS_CGG Zornitza Stark Marked STR: FMR1_FXS_CGG as ready
Mendeliome v2.582 FMR1_FXS_CGG Zornitza Stark Str: fmr1_fxs_cgg has been classified as Green List (High Evidence).
Mendeliome v2.582 Zornitza Stark Copied STR FMR1_FXS_CGG from panel Repeat Disorders
Mendeliome v2.582 FMR1_FXS_CGG Zornitza Stark STR: FMR1_FXS_CGG was added
STR: FMR1_FXS_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FMR1_FXS_CGG.
Mode of inheritance for STR: FMR1_FXS_CGG 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 STR: FMR1_FXS_CGG were set to 33795824; 25227148; 1710175; 2031184
Phenotypes for STR: FMR1_FXS_CGG were set to Fragile X syndrome MIM#300624
Mendeliome v2.581 FMR1_FXPOI_CGG Zornitza Stark Marked STR: FMR1_FXPOI_CGG as ready
Mendeliome v2.581 FMR1_FXPOI_CGG Zornitza Stark Str: fmr1_fxpoi_cgg has been classified as Green List (High Evidence).
Mendeliome v2.581 Zornitza Stark Copied STR FMR1_FXPOI_CGG from panel Repeat Disorders
Mendeliome v2.581 FMR1_FXPOI_CGG Zornitza Stark STR: FMR1_FXPOI_CGG was added
STR: FMR1_FXPOI_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: FMR1_FXPOI_CGG.
Mode of inheritance for STR: FMR1_FXPOI_CGG 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 STR: FMR1_FXPOI_CGG were set to 20301558; 9647544
Phenotypes for STR: FMR1_FXPOI_CGG were set to Premature ovarian failure 1 MIM#311360
Incidentalome v1.25 FGF14_SCA27B_GAA Zornitza Stark Marked STR: FGF14_SCA27B_GAA as ready
Incidentalome v1.25 FGF14_SCA27B_GAA Zornitza Stark Str: fgf14_sca27b_gaa has been classified as Green List (High Evidence).
Incidentalome v1.25 Zornitza Stark Copied STR FGF14_SCA27B_GAA from panel Repeat Disorders
Incidentalome v1.25 FGF14_SCA27B_GAA Zornitza Stark STR: FGF14_SCA27B_GAA was added
STR: FGF14_SCA27B_GAA was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for STR: FGF14_SCA27B_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FGF14_SCA27B_GAA were set to 37165652; 36516086; 36493768
Phenotypes for STR: FGF14_SCA27B_GAA were set to Spinocerebellar ataxia type 27B MONDO:0012247; Spinocerebellar ataxia 50; late-onset cerebellar ataxias (LOCAs)
Mendeliome v2.580 FAM193B_OPDM_CGG Zornitza Stark Marked STR: FAM193B_OPDM_CGG as ready
Mendeliome v2.580 FAM193B_OPDM_CGG Zornitza Stark Str: fam193b_opdm_cgg has been classified as Red List (Low Evidence).
Mendeliome v2.580 Zornitza Stark Copied STR FAM193B_OPDM_CGG from panel Repeat Disorders
Mendeliome v2.580 FAM193B_OPDM_CGG Zornitza Stark STR: FAM193B_OPDM_CGG was added
STR: FAM193B_OPDM_CGG was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781
Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193
Mendeliome v2.579 Zornitza Stark Copied STR FAM193B_OPDM_CGG from panel Repeat Disorders
Mendeliome v2.579 FAM193B_OPDM_CGG Zornitza Stark STR: FAM193B_OPDM_CGG was added
STR: FAM193B_OPDM_CGG was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781
Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.8 Zornitza Stark Copied STR FAM193B_OPDM_CGG from panel Repeat Disorders
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.8 FAM193B_OPDM_CGG Zornitza Stark STR: FAM193B_OPDM_CGG was added
STR: FAM193B_OPDM_CGG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert Review Red,Literature
Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781
Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193
Repeat Disorders v1.15 EP400_SCA_CAG Zornitza Stark Tag preprint tag was added to STR: EP400_SCA_CAG.
Incidentalome v1.24 EP400_SCA_CAG Zornitza Stark Marked STR: EP400_SCA_CAG as ready
Incidentalome v1.24 EP400_SCA_CAG Zornitza Stark Str: ep400_sca_cag has been classified as Amber List (Moderate Evidence).
Incidentalome v1.24 EP400_SCA_CAG Zornitza Stark Tag preprint tag was added to STR: EP400_SCA_CAG.
Ataxia v2.157 EP400_SCA_CAG Zornitza Stark Tag preprint tag was added to STR: EP400_SCA_CAG.
Incidentalome v1.24 Zornitza Stark Copied STR EP400_SCA_CAG from panel Repeat Disorders
Incidentalome v1.24 EP400_SCA_CAG Zornitza Stark STR: EP400_SCA_CAG was added
STR: EP400_SCA_CAG was added to Incidentalome. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: EP400_SCA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: EP400_SCA_CAG were set to 10.1101/2025.01.06.631535
Phenotypes for STR: EP400_SCA_CAG were set to Spinocerebellar ataxia, EP400-related MONDO:0000437
Mendeliome v2.578 EIF4A3_RCPS_complex Zornitza Stark Marked STR: EIF4A3_RCPS_complex as ready
Mendeliome v2.578 EIF4A3_RCPS_complex Zornitza Stark Str: eif4a3_rcps_complex has been classified as Green List (High Evidence).
Mendeliome v2.578 Zornitza Stark Copied STR EIF4A3_RCPS_complex from panel Repeat Disorders
Mendeliome v2.578 EIF4A3_RCPS_complex Zornitza Stark STR: EIF4A3_RCPS_complex was added
STR: EIF4A3_RCPS_complex was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: EIF4A3_RCPS_complex.
Mode of inheritance for STR: EIF4A3_RCPS_complex was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: EIF4A3_RCPS_complex were set to 24360810; 29112243
Phenotypes for STR: EIF4A3_RCPS_complex were set to Robin sequence with cleft mandible and limb anomalies MIM#268305; Richieri-Costa-Pereira syndrome
Muscular dystrophy and myopathy_Paediatric v2.10 DMD_DMD_GAA Zornitza Stark Marked STR: DMD_DMD_GAA as ready
Muscular dystrophy and myopathy_Paediatric v2.10 DMD_DMD_GAA Zornitza Stark Str: dmd_dmd_gaa has been classified as Amber List (Moderate Evidence).
Mendeliome v2.577 DMD_DMD_GAA Zornitza Stark Marked STR: DMD_DMD_GAA as ready
Mendeliome v2.577 DMD_DMD_GAA Zornitza Stark Str: dmd_dmd_gaa has been classified as Amber List (Moderate Evidence).
Muscular dystrophy and myopathy_Paediatric v2.10 Zornitza Stark Copied STR DMD_DMD_GAA from panel Repeat Disorders
Muscular dystrophy and myopathy_Paediatric v2.10 DMD_DMD_GAA Zornitza Stark STR: DMD_DMD_GAA was added
STR: DMD_DMD_GAA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Amber,Literature
adult-onset, paediatric-onset tags were added to STR: DMD_DMD_GAA.
Mode of inheritance for STR: DMD_DMD_GAA 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 STR: DMD_DMD_GAA were set to 27417533; 36048237
Phenotypes for STR: DMD_DMD_GAA were set to Duchenne muscular dystrophy MIM#310200; Becker muscular dystrophy MIM#300376
Mendeliome v2.577 Zornitza Stark Copied STR DMD_DMD_GAA from panel Repeat Disorders
Mendeliome v2.577 DMD_DMD_GAA Zornitza Stark STR: DMD_DMD_GAA was added
STR: DMD_DMD_GAA was added to Mendeliome. Sources: Expert Review Amber,Literature
adult-onset, paediatric-onset tags were added to STR: DMD_DMD_GAA.
Mode of inheritance for STR: DMD_DMD_GAA 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 STR: DMD_DMD_GAA were set to 27417533; 36048237
Phenotypes for STR: DMD_DMD_GAA were set to Duchenne muscular dystrophy MIM#310200; Becker muscular dystrophy MIM#300376
Repeat Disorders v1.15 Zornitza Stark removed STR:DM1 from the panel
Mendeliome v2.576 Zornitza Stark removed STR:DM1 from the panel
Muscular dystrophy and myopathy_Paediatric v2.9 Zornitza Stark removed STR:DM1 from the panel
Repeat Disorders v1.14 DM1 Zornitza Stark Marked STR: DM1 as ready
Repeat Disorders v1.14 DM1 Zornitza Stark Str: dm1 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v2.8 DM1 Zornitza Stark Marked STR: DM1 as ready
Muscular dystrophy and myopathy_Paediatric v2.8 DM1 Zornitza Stark Str: dm1 has been classified as Green List (High Evidence).
Mendeliome v2.575 DM1 Zornitza Stark Marked STR: DM1 as ready
Mendeliome v2.575 DM1 Zornitza Stark Str: dm1 has been classified as Green List (High Evidence).
Repeat Disorders v1.14 Zornitza Stark Copied STR DM1 from panel Myopathy - adult onset
Repeat Disorders v1.14 DM1 Zornitza Stark STR: DM1 was added
STR: DM1 was added to Repeat Disorders. Sources: Expert Review Green,Expert list
STR tags were added to STR: DM1.
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Muscular dystrophy and myopathy_Paediatric v2.8 Zornitza Stark Copied STR DM1 from panel Myopathy - adult onset
Muscular dystrophy and myopathy_Paediatric v2.8 DM1 Zornitza Stark STR: DM1 was added
STR: DM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Expert Review Green,Expert list
STR tags were added to STR: DM1.
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Mendeliome v2.575 Zornitza Stark Copied STR DM1 from panel Myopathy - adult onset
Mendeliome v2.575 DM1 Zornitza Stark STR: DM1 was added
STR: DM1 was added to Mendeliome. Sources: Expert Review Green,Expert list
STR tags were added to STR: DM1.
Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DM1 were set to 20301344; 29325606
Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900
Mendeliome v2.574 Zornitza Stark removed STR:DAB1_SCA37_ATTTC from the panel
Incidentalome v1.23 Zornitza Stark Copied STR DAB1_SCA37_ATTTC from panel Repeat Disorders
Incidentalome v1.23 DAB1_SCA37_ATTTC Zornitza Stark STR: DAB1_SCA37_ATTTC was added
STR: DAB1_SCA37_ATTTC was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: DAB1_SCA37_ATTTC.
Mode of inheritance for STR: DAB1_SCA37_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DAB1_SCA37_ATTTC were set to 28686858; 31145571
Phenotypes for STR: DAB1_SCA37_ATTTC were set to Spinocerebellar ataxia 37 MIM#615945
Incidentalome v1.22 CSTB_EPM1_CCCCGCCCCGCG Zornitza Stark Marked STR: CSTB_EPM1_CCCCGCCCCGCG as ready
Incidentalome v1.22 CSTB_EPM1_CCCCGCCCCGCG Zornitza Stark Str: cstb_epm1_ccccgccccgcg has been classified as Green List (High Evidence).
Incidentalome v1.22 Zornitza Stark Copied STR CSTB_EPM1_CCCCGCCCCGCG from panel Repeat Disorders
Incidentalome v1.22 CSTB_EPM1_CCCCGCCCCGCG Zornitza Stark STR: CSTB_EPM1_CCCCGCCCCGCG was added
STR: CSTB_EPM1_CCCCGCCCCGCG was added to Incidentalome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: CSTB_EPM1_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_EPM1_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CSTB_EPM1_CCCCGCCCCGCG were set to 29325606; 20301321; 9126745
Phenotypes for STR: CSTB_EPM1_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Genetic Epilepsy v2.42 CSNK1E_FRA22A_CGG Zornitza Stark Marked STR: CSNK1E_FRA22A_CGG as ready
Genetic Epilepsy v2.42 CSNK1E_FRA22A_CGG Zornitza Stark Str: csnk1e_fra22a_cgg has been classified as Amber List (Moderate Evidence).
Mendeliome v2.573 CSNK1E_FRA22A_CGG Zornitza Stark Marked STR: CSNK1E_FRA22A_CGG as ready
Mendeliome v2.573 CSNK1E_FRA22A_CGG Zornitza Stark Str: csnk1e_fra22a_cgg has been classified as Amber List (Moderate Evidence).
Mendeliome v2.573 Zornitza Stark Copied STR CSNK1E_FRA22A_CGG from panel Repeat Disorders
Mendeliome v2.573 CSNK1E_FRA22A_CGG Zornitza Stark STR: CSNK1E_FRA22A_CGG was added
STR: CSNK1E_FRA22A_CGG was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: CSNK1E_FRA22A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CSNK1E_FRA22A_CGG were set to 40751262; 39107278
Phenotypes for STR: CSNK1E_FRA22A_CGG were set to CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy
Genetic Epilepsy v2.42 Zornitza Stark Copied STR CSNK1E_FRA22A_CGG from panel Repeat Disorders
Genetic Epilepsy v2.42 CSNK1E_FRA22A_CGG Zornitza Stark STR: CSNK1E_FRA22A_CGG was added
STR: CSNK1E_FRA22A_CGG was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: CSNK1E_FRA22A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CSNK1E_FRA22A_CGG were set to 40751262; 39107278
Phenotypes for STR: CSNK1E_FRA22A_CGG were set to CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy
Mendeliome v2.572 COMP_MEDPSACH_GAC Zornitza Stark Marked STR: COMP_MEDPSACH_GAC as ready
Mendeliome v2.572 COMP_MEDPSACH_GAC Zornitza Stark Str: comp_medpsach_gac has been classified as Green List (High Evidence).
Mendeliome v2.572 Zornitza Stark Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders
Mendeliome v2.572 COMP_MEDPSACH_GAC Zornitza Stark STR: COMP_MEDPSACH_GAC was added
STR: COMP_MEDPSACH_GAC was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: COMP_MEDPSACH_GAC.
Mode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596
Phenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Intellectual disability syndromic and non-syndromic v2.145 CBL_FRA11B_CCG Zornitza Stark Marked STR: CBL_FRA11B_CCG as ready
Intellectual disability syndromic and non-syndromic v2.145 CBL_FRA11B_CCG Zornitza Stark Str: cbl_fra11b_ccg has been classified as Red List (Low Evidence).
Mendeliome v2.571 CBL_FRA11B_CCG Zornitza Stark Marked STR: CBL_FRA11B_CCG as ready
Mendeliome v2.571 CBL_FRA11B_CCG Zornitza Stark Str: cbl_fra11b_ccg has been classified as Red List (Low Evidence).
Mendeliome v2.571 Zornitza Stark Copied STR CBL_FRA11B_CCG from panel Repeat Disorders
Mendeliome v2.571 CBL_FRA11B_CCG Zornitza Stark STR: CBL_FRA11B_CCG was added
STR: CBL_FRA11B_CCG was added to Mendeliome. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: CBL_FRA11B_CCG.
Mode of inheritance for STR: CBL_FRA11B_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CBL_FRA11B_CCG were set to 7881408; 7603564; 9508241; 9927483; 10767345; 11076037; 19267933
Phenotypes for STR: CBL_FRA11B_CCG were set to Jacobsen syndrome MIM#147791
Intellectual disability syndromic and non-syndromic v2.145 Zornitza Stark Copied STR CBL_FRA11B_CCG from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v2.145 CBL_FRA11B_CCG Zornitza Stark STR: CBL_FRA11B_CCG was added
STR: CBL_FRA11B_CCG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: CBL_FRA11B_CCG.
Mode of inheritance for STR: CBL_FRA11B_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CBL_FRA11B_CCG were set to 7881408; 7603564; 9508241; 9927483; 10767345; 11076037; 19267933
Phenotypes for STR: CBL_FRA11B_CCG were set to Jacobsen syndrome MIM#147791
Repeat Disorders v1.13 CBL_FRA11B_CCG Zornitza Stark reviewed STR: CBL_FRA11B_CCG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Incidentalome v1.21 CACNA1A_SCA6_CAG Zornitza Stark Marked STR: CACNA1A_SCA6_CAG as ready
Incidentalome v1.21 CACNA1A_SCA6_CAG Zornitza Stark Str: cacna1a_sca6_cag has been classified as Green List (High Evidence).
Incidentalome v1.21 Zornitza Stark Copied STR CACNA1A_SCA6_CAG from panel Repeat Disorders
Incidentalome v1.21 CACNA1A_SCA6_CAG Zornitza Stark STR: CACNA1A_SCA6_CAG was added
STR: CACNA1A_SCA6_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: CACNA1A_SCA6_CAG.
Mode of inheritance for STR: CACNA1A_SCA6_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CACNA1A_SCA6_CAG were set to 8988170; 20301319; 29325606
Phenotypes for STR: CACNA1A_SCA6_CAG were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500
Intellectual disability syndromic and non-syndromic v2.144 C11orf80_FRA11A_CGG Zornitza Stark Marked STR: C11orf80_FRA11A_CGG as ready
Intellectual disability syndromic and non-syndromic v2.144 C11orf80_FRA11A_CGG Zornitza Stark Str: c11orf80_fra11a_cgg has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v2.144 C11orf80_FRA11A_CGG Zornitza Stark Phenotypes for STR: C11orf80_FRA11A_CGG were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v2.570 Zornitza Stark Copied STR C11orf80_FRA11A_CGG from panel Repeat Disorders
Mendeliome v2.570 C11orf80_FRA11A_CGG Zornitza Stark STR: C11orf80_FRA11A_CGG was added
STR: C11orf80_FRA11A_CGG was added to Mendeliome. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: C11orf80_FRA11A_CGG.
Mode of inheritance for STR: C11orf80_FRA11A_CGG was set to Unknown
Publications for STR: C11orf80_FRA11A_CGG were set to 18160775; 453198
Phenotypes for STR: C11orf80_FRA11A_CGG were set to Intellectual disability
Intellectual disability syndromic and non-syndromic v2.143 Zornitza Stark Copied STR C11orf80_FRA11A_CGG from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v2.143 C11orf80_FRA11A_CGG Zornitza Stark STR: C11orf80_FRA11A_CGG was added
STR: C11orf80_FRA11A_CGG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
paediatric-onset tags were added to STR: C11orf80_FRA11A_CGG.
Mode of inheritance for STR: C11orf80_FRA11A_CGG was set to Unknown
Publications for STR: C11orf80_FRA11A_CGG were set to 18160775; 453198
Phenotypes for STR: C11orf80_FRA11A_CGG were set to Intellectual disability
Mendeliome v2.569 Zornitza Stark removed STR:BEAN1_SCA31_TGGAA from the panel
Incidentalome v1.20 Zornitza Stark Copied STR BEAN1_SCA31_TGGAA from panel Repeat Disorders
Incidentalome v1.20 BEAN1_SCA31_TGGAA Zornitza Stark STR: BEAN1_SCA31_TGGAA was added
STR: BEAN1_SCA31_TGGAA was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: BEAN1_SCA31_TGGAA.
Mode of inheritance for STR: BEAN1_SCA31_TGGAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: BEAN1_SCA31_TGGAA were set to 19878914; 31755042
Phenotypes for STR: BEAN1_SCA31_TGGAA were set to Spinocerebellar ataxia 31 MIM#117210
Incidentalome v1.19 ATXN8OS_SCA8_CTG Zornitza Stark Marked STR: ATXN8OS_SCA8_CTG as ready
Incidentalome v1.19 ATXN8OS_SCA8_CTG Zornitza Stark Str: atxn8os_sca8_ctg has been classified as Green List (High Evidence).
Incidentalome v1.19 Zornitza Stark Copied STR ATXN8OS_SCA8_CTG from panel Repeat Disorders
Incidentalome v1.19 ATXN8OS_SCA8_CTG Zornitza Stark STR: ATXN8OS_SCA8_CTG was added
STR: ATXN8OS_SCA8_CTG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: ATXN8OS_SCA8_CTG.
Mode of inheritance for STR: ATXN8OS_SCA8_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN8OS_SCA8_CTG were set to 20301445; 10192387
Phenotypes for STR: ATXN8OS_SCA8_CTG were set to Spinocerebellar ataxia 8 MIM#608768
Incidentalome v1.18 ATXN7_SCA7_CAG Zornitza Stark Marked STR: ATXN7_SCA7_CAG as ready
Incidentalome v1.18 ATXN7_SCA7_CAG Zornitza Stark Str: atxn7_sca7_cag has been classified as Green List (High Evidence).
Mendeliome v2.568 Zornitza Stark removed STR:ATXN7_SCA7_CAG from the panel
Incidentalome v1.18 Zornitza Stark Copied STR ATXN7_SCA7_CAG from panel Repeat Disorders
Incidentalome v1.18 ATXN7_SCA7_CAG Zornitza Stark STR: ATXN7_SCA7_CAG was added
STR: ATXN7_SCA7_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: ATXN7_SCA7_CAG.
Mode of inheritance for STR: ATXN7_SCA7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN7_SCA7_CAG were set to 8908515; 29325606; 20301433
Phenotypes for STR: ATXN7_SCA7_CAG were set to Spinocerebellar ataxia 7 MIM#164500
Incidentalome v1.17 ATXN3_SCA3_CAG Zornitza Stark Marked STR: ATXN3_SCA3_CAG as ready
Incidentalome v1.17 ATXN3_SCA3_CAG Zornitza Stark Str: atxn3_sca3_cag has been classified as Green List (High Evidence).
Mendeliome v2.567 Zornitza Stark removed STR:ATXN3_SCA3_CAG from the panel
Incidentalome v1.17 Zornitza Stark Copied STR ATXN3_SCA3_CAG from panel Repeat Disorders
Incidentalome v1.17 ATXN3_SCA3_CAG Zornitza Stark STR: ATXN3_SCA3_CAG was added
STR: ATXN3_SCA3_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: ATXN3_SCA3_CAG.
Mode of inheritance for STR: ATXN3_SCA3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN3_SCA3_CAG were set to 7874163; 20301375; 29325606
Phenotypes for STR: ATXN3_SCA3_CAG were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3
Incidentalome v1.16 ATXN2_SCA2_CAG Zornitza Stark Marked STR: ATXN2_SCA2_CAG as ready
Incidentalome v1.16 ATXN2_SCA2_CAG Zornitza Stark Str: atxn2_sca2_cag has been classified as Green List (High Evidence).
Mendeliome v2.566 Zornitza Stark removed STR:ATXN2_SCA2_CAG from the panel
Incidentalome v1.16 Zornitza Stark Copied STR ATXN2_SCA2_CAG from panel Repeat Disorders
Incidentalome v1.16 ATXN2_SCA2_CAG Zornitza Stark STR: ATXN2_SCA2_CAG was added
STR: ATXN2_SCA2_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: ATXN2_SCA2_CAG.
Mode of inheritance for STR: ATXN2_SCA2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN2_SCA2_CAG were set to 8896555; 29325606; 20301452
Phenotypes for STR: ATXN2_SCA2_CAG were set to Spinocerebellar ataxia 2 MIM#183090
Mendeliome v2.565 Zornitza Stark removed STR:ATXN1_SCA1_CAG from the panel
Incidentalome v1.15 Zornitza Stark Copied STR ATXN1_SCA1_CAG from panel Repeat Disorders
Incidentalome v1.15 ATXN1_SCA1_CAG Zornitza Stark STR: ATXN1_SCA1_CAG was added
STR: ATXN1_SCA1_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: ATXN1_SCA1_CAG.
Mode of inheritance for STR: ATXN1_SCA1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN1_SCA1_CAG were set to 8358429; 29325606; 20301363
Phenotypes for STR: ATXN1_SCA1_CAG were set to Spinocerebellar ataxia 1 MIM#164400
Incidentalome v1.14 ATXN10_SCA10_ATTCT Zornitza Stark Marked STR: ATXN10_SCA10_ATTCT as ready
Incidentalome v1.14 ATXN10_SCA10_ATTCT Zornitza Stark Str: atxn10_sca10_attct has been classified as Green List (High Evidence).
Mendeliome v2.564 Zornitza Stark removed STR:ATXN10_SCA10_ATTCT from the panel
Incidentalome v1.14 Zornitza Stark Copied STR ATXN10_SCA10_ATTCT from panel Repeat Disorders
Incidentalome v1.14 ATXN10_SCA10_ATTCT Zornitza Stark STR: ATXN10_SCA10_ATTCT was added
STR: ATXN10_SCA10_ATTCT was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: ATXN10_SCA10_ATTCT.
Mode of inheritance for STR: ATXN10_SCA10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN10_SCA10_ATTCT were set to 20301354; 11017075
Phenotypes for STR: ATXN10_SCA10_ATTCT were set to Spinocerebellar ataxia 10 MIM#603516
Incidentalome v1.13 ATN1_DRPLA_CAG Zornitza Stark Marked STR: ATN1_DRPLA_CAG as ready
Incidentalome v1.13 ATN1_DRPLA_CAG Zornitza Stark Str: atn1_drpla_cag has been classified as Green List (High Evidence).
Incidentalome v1.13 Zornitza Stark Copied STR ATN1_DRPLA_CAG from panel Repeat Disorders
Incidentalome v1.13 ATN1_DRPLA_CAG Zornitza Stark STR: ATN1_DRPLA_CAG was added
STR: ATN1_DRPLA_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: ATN1_DRPLA_CAG.
Mode of inheritance for STR: ATN1_DRPLA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_DRPLA_CAG were set to 8136840; 8136826; 29325606; 20301664
Phenotypes for STR: ATN1_DRPLA_CAG were set to Dentatorubral-pallidoluysian atrophy MIM#125370
Mendeliome v2.563 ARX_EIEE1_GCN1 Zornitza Stark Marked STR: ARX_EIEE1_GCN1 as ready
Mendeliome v2.563 ARX_EIEE1_GCN1 Zornitza Stark Str: arx_eiee1_gcn1 has been classified as Green List (High Evidence).
Mendeliome v2.563 Zornitza Stark Copied STR ARX_EIEE1_GCN1 from panel Intellectual disability syndromic and non-syndromic
Mendeliome v2.563 ARX_EIEE1_GCN1 Zornitza Stark STR: ARX_EIEE1_GCN1 was added
STR: ARX_EIEE1_GCN1 was added to Mendeliome. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: ARX_EIEE1_GCN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: ARX_EIEE1_GCN1 were set to 11889467; 33811808
Phenotypes for STR: ARX_EIEE1_GCN1 were set to Developmental and epileptic encephalopathy 1 MIM#308350; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510
Incidentalome v1.12 AR_SBMA_CAG Zornitza Stark Marked STR: AR_SBMA_CAG as ready
Incidentalome v1.12 AR_SBMA_CAG Zornitza Stark Str: ar_sbma_cag has been classified as Green List (High Evidence).
Incidentalome v1.12 Zornitza Stark Copied STR AR_SBMA_CAG from panel Repeat Disorders
Incidentalome v1.12 AR_SBMA_CAG Zornitza Stark STR: AR_SBMA_CAG was added
STR: AR_SBMA_CAG was added to Incidentalome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: AR_SBMA_CAG.
Mode of inheritance for STR: AR_SBMA_CAG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: AR_SBMA_CAG were set to 2062380; 20301508; 29325606
Phenotypes for STR: AR_SBMA_CAG were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Mendeliome v2.562 AFF3_FRA2A_CGG Zornitza Stark Marked STR: AFF3_FRA2A_CGG as ready
Mendeliome v2.562 AFF3_FRA2A_CGG Zornitza Stark Str: aff3_fra2a_cgg has been classified as Amber List (Moderate Evidence).
Mendeliome v2.562 AFF3_FRA2A_CGG Zornitza Stark Phenotypes for STR: AFF3_FRA2A_CGG were changed from Neurodevelopmental delay to Neurodevelopmental disorder, MONDO:0700092, AFF3-related
Intellectual disability syndromic and non-syndromic v2.142 AFF3_FRA2A_CGG Zornitza Stark Marked STR: AFF3_FRA2A_CGG as ready
Intellectual disability syndromic and non-syndromic v2.142 AFF3_FRA2A_CGG Zornitza Stark Str: aff3_fra2a_cgg has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v2.142 AFF3_FRA2A_CGG Zornitza Stark Phenotypes for STR: AFF3_FRA2A_CGG were changed from Neurodevelopmental delay to Neurodevelopmental disorder, MONDO:0700092, AFF3-related
Mendeliome v2.561 Zornitza Stark Copied STR AFF3_FRA2A_CGG from panel Repeat Disorders
Mendeliome v2.561 AFF3_FRA2A_CGG Zornitza Stark STR: AFF3_FRA2A_CGG was added
STR: AFF3_FRA2A_CGG was added to Mendeliome. Sources: Expert Review Amber,Literature
paediatric-onset tags were added to STR: AFF3_FRA2A_CGG.
Mode of inheritance for STR: AFF3_FRA2A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: AFF3_FRA2A_CGG were set to 24763282; 39313615; 33510257
Phenotypes for STR: AFF3_FRA2A_CGG were set to Neurodevelopmental delay
Intellectual disability syndromic and non-syndromic v2.141 Zornitza Stark Copied STR AFF3_FRA2A_CGG from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v2.141 AFF3_FRA2A_CGG Zornitza Stark STR: AFF3_FRA2A_CGG was added
STR: AFF3_FRA2A_CGG was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
paediatric-onset tags were added to STR: AFF3_FRA2A_CGG.
Mode of inheritance for STR: AFF3_FRA2A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: AFF3_FRA2A_CGG were set to 24763282; 39313615; 33510257
Phenotypes for STR: AFF3_FRA2A_CGG were set to Neurodevelopmental delay
Renal Tubulopathies and related disorders v2.9 Zornitza Stark removed gene:BICC1 from the panel
Renal Tubulointerstitial Disease v2.2 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Renal Tubulointerstitial Disease v2.2 BICC1 Zornitza Stark Gene: bicc1 has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v2.2 BICC1 Zornitza Stark Mode of inheritance for gene: BICC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v2.1 BICC1 Zornitza Stark Tag preprint tag was added to gene: BICC1.
Mendeliome v2.560 BICC1 Zornitza Stark Tag preprint tag was added to gene: BICC1.
Cardiomyopathy_Paediatric v1.359 JPH2 Carlos Smith-Diaz reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31227780, 30384889, 34036930, 35838873; Phenotypes: Dilated Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v1.13 BICC1 Zornitza Stark reviewed gene: BICC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.48 FTO Zornitza Stark changed review comment from: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609.

AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects.; to: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609. The missense variant has an implausibly high population frequency.

AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects.
Mendeliome v2.560 FTO Zornitza Stark edited their review of gene: FTO: Changed rating: AMBER
Mendeliome v2.560 FTO Zornitza Stark Deleted their comment
Mendeliome v2.560 FTO Zornitza Stark changed review comment from: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609.

AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects.; to: Association with male infertility: 3 individuals reported, two LoF variants and a missense, PMID 37146971 and 42576609. The missense variant has a very high pop frequency.

AMBER for this association. No segregation data. Some supportive functional data including mouse Fto knockout recapitulating age‑dependent spermatogenic defects.
Mendeliome v2.560 FTO Zornitza Stark edited their review of gene: FTO: Changed publications: 37146971; Changed phenotypes: Infertility disorder, MONDO:0005047, FTO-related
Mendeliome v2.560 FTO Zornitza Stark edited their review of gene: FTO: Added comment: Male infertility association: Two unrelated families with heterozygous truncating FTO variants (p.Arg322*, p.Leu426fs) presenting with oligospermia or non‑obstructive azoospermia (PMID 37146971) reported. The variants are absent from gnomAD V4, truncate the protein and increase global m6A levels in over‑expression assays. Mouse Fto knockout recapitulates age‑dependent spermatogenic defects.; Changed rating: RED; Changed phenotypes: Infertility disorder, MONDO:0005047, Syndromic disease, MONDO:0002254, lethal polymalformative syndrome, Boissel type, MONDO:0013050; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypogonadotropic hypogonadism v1.18 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Hypogonadotropic hypogonadism v1.18 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v1.18 CCDC149 Zornitza Stark Phenotypes for gene: CCDC149 were changed from Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related to Syndromic disease, MONDO:0002254, CCDC149-related
Hypogonadotropic hypogonadism v1.17 CCDC149 Zornitza Stark Deleted their comment
Pituitary hormone deficiency v1.21 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Pituitary hormone deficiency v1.21 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v1.21 CCDC149 Zornitza Stark Phenotypes for gene: CCDC149 were changed from Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related to Syndromic disease, MONDO:0002254, CCDC149-related
Pituitary hormone deficiency v1.20 CCDC149 Zornitza Stark Deleted their comment
Intellectual disability syndromic and non-syndromic v2.140 CCDC149 Zornitza Stark Marked gene: CCDC149 as ready
Intellectual disability syndromic and non-syndromic v2.140 CCDC149 Zornitza Stark Gene: ccdc149 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v2.140 CCDC149 Zornitza Stark Phenotypes for gene: CCDC149 were changed from Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related to Syndromic disease, MONDO:0002254, CCDC149-related
Intellectual disability syndromic and non-syndromic v2.139 CCDC149 Zornitza Stark Deleted their comment
Pituitary hormone deficiency v1.20 Zornitza Stark Copied gene CCDC149 from panel Mendeliome
Pituitary hormone deficiency v1.20 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Pituitary hormone deficiency. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248; 42554577
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related
Intellectual disability syndromic and non-syndromic v2.139 Zornitza Stark Copied gene CCDC149 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.139 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248; 42554577
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related
Hypogonadotropic hypogonadism v1.17 Zornitza Stark Copied gene CCDC149 from panel Mendeliome
Hypogonadotropic hypogonadism v1.17 CCDC149 Zornitza Stark gene: CCDC149 was added
gene: CCDC149 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CCDC149 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC149 were set to 40459248; 42554577
Phenotypes for gene: CCDC149 were set to Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related
Mendeliome v2.560 CCDC149 Zornitza Stark Phenotypes for gene: CCDC149 were changed from Cryptorchidism, MONDO:0009047, CCDC149-related to Cryptorchidism, MONDO:0009047, CCDC149-related; Syndromic disease, MONDO:0002254, CCDC149-related
Mendeliome v2.559 CCDC149 Zornitza Stark Publications for gene: CCDC149 were set to 40459248
Mendeliome v2.558 CCDC149 Zornitza Stark edited their review of gene: CCDC149: Added comment: PMID 42554577 reports two consanguineous families (three affected individuals) with homozygous truncating CCDC149 variants causing congenital hypopituitarism with growth‑hormone deficiency, hypogonadotropic hypogonadism and neurodevelopmental delay (childhood‑onset).; Changed publications: 42554577, 40459248; Changed phenotypes: Syndromic disease, MONDO:0002254, CCDC149-related
Intellectual disability syndromic and non-syndromic v2.138 TTC14 Zornitza Stark Marked gene: TTC14 as ready
Intellectual disability syndromic and non-syndromic v2.138 TTC14 Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence).
Genetic Epilepsy v2.41 TTC14 Zornitza Stark Marked gene: TTC14 as ready
Genetic Epilepsy v2.41 TTC14 Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence).
Microcephaly v2.32 TTC14 Zornitza Stark Marked gene: TTC14 as ready
Microcephaly v2.32 TTC14 Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v2.1 TTC14 Zornitza Stark Marked gene: TTC14 as ready
Lissencephaly and Band Heterotopia v2.1 TTC14 Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence).
Microcephaly v2.32 Zornitza Stark Copied gene TTC14 from panel Mendeliome
Microcephaly v2.32 TTC14 Zornitza Stark gene: TTC14 was added
gene: TTC14 was added to Microcephaly. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC14 were set to 42572047
Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related
Lissencephaly and Band Heterotopia v2.1 Zornitza Stark Copied gene TTC14 from panel Mendeliome
Lissencephaly and Band Heterotopia v2.1 TTC14 Zornitza Stark gene: TTC14 was added
gene: TTC14 was added to Lissencephaly and Band Heterotopia. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC14 were set to 42572047
Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related
Intellectual disability syndromic and non-syndromic v2.138 Zornitza Stark Copied gene TTC14 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.138 TTC14 Zornitza Stark gene: TTC14 was added
gene: TTC14 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC14 were set to 42572047
Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related
Genetic Epilepsy v2.41 Zornitza Stark Copied gene TTC14 from panel Mendeliome
Genetic Epilepsy v2.41 TTC14 Zornitza Stark gene: TTC14 was added
gene: TTC14 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC14 were set to 42572047
Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related
Mendeliome v2.558 TTC14 Zornitza Stark Marked gene: TTC14 as ready
Mendeliome v2.558 TTC14 Zornitza Stark Gene: ttc14 has been classified as Red List (Low Evidence).
Mendeliome v2.558 TTC14 Zornitza Stark gene: TTC14 was added
gene: TTC14 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TTC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC14 were set to 42572047
Phenotypes for gene: TTC14 were set to Neurodevelopmental disorder, MONDO:0700092, TTC14-related
Review for gene: TTC14 was set to RED
Added comment: PMID 42572047 reports a single individual with a homozygous missense TTC14 variant (c.89A>G, p.His30Arg) presenting with a lissencephaly spectrum disorder that includes microcephaly, epileptic spasms and global developmental delay. Patient‑derived fibroblasts show TTC14 protein mislocalisation, aggregation and increased cell death, supporting a loss‑of‑function mechanism.
Sources: Literature
Retinitis pigmentosa v1.13 SAMD11 Zornitza Stark Marked gene: SAMD11 as ready
Retinitis pigmentosa v1.13 SAMD11 Zornitza Stark Gene: samd11 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v1.13 SAMD11 Zornitza Stark Phenotypes for gene: SAMD11 were changed from Autosomal recessive retinitis pigmentosa to retinitis pigmentosa, MONDO:0019200, SAMD11-related
Retinitis pigmentosa v1.12 SAMD11 Zornitza Stark Tag founder tag was added to gene: SAMD11.
Retinitis pigmentosa v1.12 SAMD11 Zornitza Stark reviewed gene: SAMD11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: retinitis pigmentosa, MONDO:0019200, SAMD11-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.557 SAMD11 Zornitza Stark Marked gene: SAMD11 as ready
Mendeliome v2.557 SAMD11 Zornitza Stark Gene: samd11 has been classified as Red List (Low Evidence).
Mendeliome v2.557 SAMD11 Zornitza Stark gene: SAMD11 was added
gene: SAMD11 was added to Mendeliome. Sources: Literature
founder tags were added to gene: SAMD11.
Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMD11 were set to 27734943
Phenotypes for gene: SAMD11 were set to retinitis pigmentosa, MONDO:0019200
Review for gene: SAMD11 was set to RED
Added comment: PMID 27734943 describes five individuals from two consanguineous families harbouring a homozygous nonsense SAMD11 p.Arg630* variant that segregates with adult-onset disease and is absent from population databases. SAMD11 is orthologue to the mouse major retinal SAM domain (mr-s) protein that is implicated in CRX-mediated transcriptional regulation in the retina.
Sources: Literature
Mendeliome v2.556 SYCP2 Zornitza Stark Phenotypes for gene: SYCP2 were changed from Spermatogenic failure 1, MIM# 258150 to Spermatogenic failure 1, MIM# 258150; Infertility disorder, MONDO:0005047, SYCP2-related; Hydatidiform mole
Mendeliome v2.555 SYCP2 Zornitza Stark Publications for gene: SYCP2 were set to 32092049; 31866047
Mendeliome v2.554 SYCP2 Zornitza Stark Mode of inheritance for gene: SYCP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.553 SYCP2 Zornitza Stark edited their review of gene: SYCP2: Changed phenotypes: Infertility disorder, MONDO:0005047, SYCP2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.553 Zornitza Stark Added reviews for gene SYCP2 from panel Infertility and Recurrent Pregnancy Loss
Infertility and Recurrent Pregnancy Loss v2.48 SYCP2 Zornitza Stark Phenotypes for gene: SYCP2 were changed from Spermatogenic failure 1, MIM# 258150; Hydatidiform mole to Infertility disorder, MONDO:0005047, SYCP2-related; Spermatogenic failure 1, MIM# 258150; Hydatidiform mole
Infertility and Recurrent Pregnancy Loss v2.47 SYCP2 Zornitza Stark Mode of inheritance for gene: SYCP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v2.46 SYCP2 Zornitza Stark reviewed gene: SYCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infertility disorder, MONDO:0005047, SYCP2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.81 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Fetal anomalies v2.80 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Fetal anomalies v2.79 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367; Changed phenotypes: Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Mendeliome v2.552 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694; Parkinson disease 27, autosomal recessive early-onset, MIM# 621693 to Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695; Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694; Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Mendeliome v2.551 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694, Parkinson disease 27, autosomal recessive early-onset, MIM# 621693, Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Arthrogryposis v2.6 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Arthrogryposis v2.5 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Arthrogryposis v2.4 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367; Changed phenotypes: Arthrogryposis multiplex congenita 8, neurogenic type, MIM# 621695
Callosome v1.25 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Callosome v1.24 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302
Callosome v1.23 PSMF1 Zornitza Stark reviewed gene: PSMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41986367; Phenotypes: Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v2.137 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Intellectual disability syndromic and non-syndromic v2.136 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Intellectual disability syndromic and non-syndromic v2.135 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367
Intellectual disability syndromic and non-syndromic v2.135 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Regression v1.8 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Regression v1.7 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Regression v1.6 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367
Regression v1.6 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694
Mendeliome v2.551 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related; Parkinson disease 27, autosomal recessive early-onset, MIM# 621693 to Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694; Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Mendeliome v2.550 PSMF1 Zornitza Stark Publications for gene: PSMF1 were set to https://www.medrxiv.org/content/10.1101/2024.06.19.24308302v1
Mendeliome v2.549 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed publications: 41986367
Mendeliome v2.549 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities, MIM# 621694, Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Mendeliome v2.549 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related; Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Mendeliome v2.548 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related, Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Early-onset Parkinson disease v3.32 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related to Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Early-onset Parkinson disease v3.31 PSMF1 Zornitza Stark edited their review of gene: PSMF1: Changed phenotypes: Parkinson disease 27, autosomal recessive early-onset, MIM# 621693
Ataxia v2.157 PDHA1 Bryony Thompson Marked gene: PDHA1 as ready
Ataxia v2.157 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Ataxia v2.157 PDHA1 Bryony Thompson Classified gene: PDHA1 as Green List (high evidence)
Ataxia v2.157 PDHA1 Bryony Thompson Gene: pdha1 has been classified as Green List (High Evidence).
Ataxia v2.156 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PDHA1 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: PDHA1 were set to 41760389; 35132535; 31673819; 29756269; 26014431
Phenotypes for gene: PDHA1 were set to pyruvate dehydrogenase E1-alpha deficiency, MONDO:0010717
Review for gene: PDHA1 was set to GREEN
Added comment: Four independent families (PMID 31673819, PMID 26014431, PMID 35132535, PMID 29756269) with X‑linked PDHA1 loss‑of‑function or de novo missense variants present with cerebellar ataxia, developmental delay, lactic acidosis and other neurological signs; an additional prenatal case (PMID 41760389) expands the phenotypic spectrum.
Sources: Literature
Ataxia v2.155 NGLY1 Bryony Thompson gene: NGLY1 was added
gene: NGLY1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGLY1 were set to 38070824; 32395402; 29997391
Phenotypes for gene: NGLY1 were set to congenital disorder of deglycosylation 1, MONDO:0800044
Review for gene: NGLY1 was set to GREEN
Added comment: PMID 32395402 reports 1 family with a homozygous frameshift (c.1891del) causing NGLY1 deficiency, presenting with developmental delay, hyperkinetic movement disorder, ataxia, hypo/alacrima and elevated transaminases. PMID 29997391 describes two unrelated families (Morocco and Tunisia) homozygous for the missense p.Asp597Asn variant, whose core phenotype includes congenital non‑progressive cerebellar ataxia and neurodevelopmental delay. PMID 38070824 adds a compound‑heterozygous family with a start‑codon deletion and a missense p.C286Y variant, showing progressive myoclonic epilepsy, ataxia and cerebellar atrophy. Across the three studies, four families out of nine are reported with ataxia.
Sources: Literature
Fetal anomalies v2.79 MMP21 Zornitza Stark Publications for gene: MMP21 were set to 26429889; 26437028; 26437029
Fetal anomalies v2.78 MMP21 Zornitza Stark Mode of inheritance for gene: MMP21 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.77 MMP21 Zornitza Stark edited their review of gene: MMP21: Added comment: Monoallelic association: PMID 36123719 reports three de novo heterozygous missense MMP21 variants; variant‑specific zebrafish rescue data presented for two of the variants.

AMBER for this association.; Changed publications: 42630107, 40679208, 40467998, 39858609, 39513328, 36123719, 33240936, 33131162, 30622330, 29263817, 26437029, 26437028, 26429889; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v2.5 MMP21 Zornitza Stark Publications for gene: MMP21 were set to 26429889; 26437028; 26437029
Heterotaxy v2.4 MMP21 Zornitza Stark Mode of inheritance for gene: MMP21 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v2.3 MMP21 Zornitza Stark edited their review of gene: MMP21: Added comment: Monoallelic association: PMID 36123719 reports three de novo heterozygous missense MMP21 variants; variant‑specific zebrafish rescue data presented for two of the variants.

AMBER for this association.; Changed publications: 42630107, 40679208, 40467998, 39858609, 39513328, 36123719, 33240936, 33131162, 30622330, 29263817, 26437029, 26437028, 26429889; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Heterotaxy v2.3 Zornitza Stark Added reviews for gene MMP21 from panel Mendeliome
Fetal anomalies v2.77 Zornitza Stark Added reviews for gene MMP21 from panel Mendeliome
Mendeliome v2.548 MMP21 Zornitza Stark Publications for gene: MMP21 were set to 26429889; 26437028; 26437029
Mendeliome v2.547 MMP21 Zornitza Stark Mode of inheritance for gene: MMP21 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.546 MMP21 Zornitza Stark edited their review of gene: MMP21: Added comment: Monoallelic association: PMID 36123719 reports three de novo heterozygous missense MMP21 variants; variant‑specific zebrafish rescue data presented for two of the variants.

AMBER for this association.; Changed publications: 42630107, 40679208, 40467998, 39858609, 39513328, 36123719, 33240936, 33131162, 30622330, 29263817, 26437029, 26437028, 26429889; Changed phenotypes: heterotaxy, visceral, 7, autosomal, MONDO:0014762; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v2.46 FTO Zornitza Stark Marked gene: FTO as ready
Infertility and Recurrent Pregnancy Loss v2.46 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.46 FTO Zornitza Stark Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism MIM#612938 to Infertility disorder, MONDO:0005047, FTO-related
Infertility and Recurrent Pregnancy Loss v2.45 FTO Zornitza Stark Publications for gene: FTO were set to 19234441; 19559399; 26378117; 26697951; 26378117; 26740239
Infertility and Recurrent Pregnancy Loss v2.44 FTO Zornitza Stark Mode of inheritance for gene: FTO was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.43 FTO Zornitza Stark Classified gene: FTO as Amber List (moderate evidence)
Infertility and Recurrent Pregnancy Loss v2.43 FTO Zornitza Stark Gene: fto has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v2.42 FTO Zornitza Stark edited their review of gene: FTO: Changed rating: AMBER; Changed publications: 42576609, 37146971; Changed phenotypes: Infertility disorder, MONDO:0005047, FTO-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Infertility and Recurrent Pregnancy Loss v2.42 Zornitza Stark Copied gene FTO from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v2.42 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 19234441; 19559399; 26378117; 26697951; 26378117; 26740239
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism MIM#612938
Mendeliome v2.546 FTO Zornitza Stark reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 42576609, 37529081, 37146971, 30926952, 29161441, 27241786, 26740239, 26697951, 26378117, 19559399; Phenotypes: Infertility disorder, MONDO:0005047, FTO-related, lethal polymalformative syndrome, Boissel type, MONDO:0013050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.546 KIRREL3 Sarah Milton reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 42590949; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038, KIRREL3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.546 CHD9 Sarah Milton Marked gene: CHD9 as ready
Mendeliome v2.546 CHD9 Sarah Milton Gene: chd9 has been classified as Red List (Low Evidence).
Mendeliome v2.546 CHD9 Sarah Milton gene: CHD9 was added
gene: CHD9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CHD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD9 were set to 42640505; 35183220
Phenotypes for gene: CHD9 were set to Neurodevelopmental disorder, MONDO:0700092, CHD9-related
Review for gene: CHD9 was set to RED
Added comment: 2 papers assert CHD9 as a candidate gene for Chiari I malformation and a neurodevelopmental disorder respectively. Plausible biologically given other CHD proteins are disease associated but requires further literature to be considered in a diagnostic setting.
Sources: Literature
Nucleotide metabolism disorders v1.1 Richard Lin Copied gene PAICS from panel Mendeliome
Nucleotide metabolism disorders v1.1 PAICS Richard Lin gene: PAICS was added
gene: PAICS was added to Nucleotide metabolism disorders. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to PAICS deficiency MONDO:0859003
Mendeliome v2.545 PAICS Richard Lin edited their review of gene: PAICS: Changed phenotypes: PAICS deficiency, MONDO:0859003, Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859, Disorders of purine metabolism
Mendeliome v2.545 PAICS Richard Lin reviewed gene: PAICS: Rating: AMBER; Mode of pathogenicity: None; Publications: 42569864, 39726239, 39604553, 31600779; Phenotypes: PAICS deficiency, MONDO:0859003, Phosphoribosylaminoimidazole carboxylase deficiency, MIM:619859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v2.8 Lucy Spencer Copied gene BICC1 from panel Mendeliome
Renal Tubulopathies and related disorders v2.8 BICC1 Lucy Spencer gene: BICC1 was added
gene: BICC1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Phenotypes for gene: BICC1 were set to Kidney disorder MONDO:0005240, BICC1-related
Renal Tubulointerstitial Disease v2.1 Lucy Spencer Copied gene BICC1 from panel Mendeliome
Renal Tubulointerstitial Disease v2.1 BICC1 Lucy Spencer gene: BICC1 was added
gene: BICC1 was added to Renal Tubulointerstitial Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Phenotypes for gene: BICC1 were set to Kidney disorder MONDO:0005240, BICC1-related
Mendeliome v2.545 BICC1 Lucy Spencer Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Kidney disorder MONDO:0005240, BICC1-related
Mendeliome v2.544 BICC1 Lucy Spencer Classified gene: BICC1 as Green List (high evidence)
Mendeliome v2.544 BICC1 Lucy Spencer Gene: bicc1 has been classified as Green List (High Evidence).
Mendeliome v2.543 BICC1 Lucy Spencer reviewed gene: BICC1: Rating: GREEN; Mode of pathogenicity: None; Publications: doi.org/10.64898/2026.08.20.26360556; Phenotypes: Kidney disorder MONDO:0005240, BICC1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v2.154 NEU1 Bryony Thompson Classified gene: NEU1 as Green List (high evidence)
Ataxia v2.154 NEU1 Bryony Thompson Gene: neu1 has been classified as Green List (High Evidence).
Ataxia v2.153 NEU1 Bryony Thompson gene: NEU1 was added
gene: NEU1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEU1 were set to 39482827; 38600684; 33516873; 32753397; 32472645
Phenotypes for gene: NEU1 were set to sialidosis type 1, MONDO:0019346
Review for gene: NEU1 was set to GREEN
Added comment: NEU1 encodes the lysosomal sialidase Neu1. Biallelic loss‑of‑function variants in NEU1 cause sialidosis type 1, an autosomal recessive lysosomal storage disorder characterised by progressive myoclonic ataxia, myoclonus, seizures and visual impairment. Functional assays in patient‑derived iPSC neurons and HEK293T cells demonstrate reduced Neu1 protein and enzymatic activity, supporting loss‑of‑function as the disease mechanism.
Sources: Literature
Ataxia v2.152 NAXE Bryony Thompson Marked gene: NAXE as ready
Ataxia v2.152 NAXE Bryony Thompson Gene: naxe has been classified as Green List (High Evidence).
Ataxia v2.152 NAXE Bryony Thompson Classified gene: NAXE as Green List (high evidence)
Ataxia v2.152 NAXE Bryony Thompson Gene: naxe has been classified as Green List (High Evidence).
Ataxia v2.151 NAXE Bryony Thompson gene: NAXE was added
gene: NAXE was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 38419707; 37274027; 36773198; 35637064; 34678889; 34120322; 31745726; 30022751; 27616477
Phenotypes for gene: NAXE were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, MONDO:0020781
Review for gene: NAXE was set to GREEN
Added comment: At least 8 families with biallelic loss‑of‑function NAXE variants cause early‑onset progressive encephalopathy with brain edema/leukoencephalopathy and cerebellar ataxia. Functional fibroblast studies show loss of NAXE protein but no rescue experiments; no cis‑regulatory variants are reported. The autosomal recessive inheritance and prominent ataxia make NAXE deficiency (PEBEL1) relevant for the Ataxia gene panel.
Sources: Literature
Epidermolysis bullosa v2.1 CSTB Rylee Peters Classified gene: CSTB as Red List (low evidence)
Epidermolysis bullosa v2.1 CSTB Rylee Peters Gene: cstb has been classified as Red List (Low Evidence).
Mendeliome v2.543 CSTB Rylee Peters Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Keratolytic winter erythema (MIM#148370) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800
Mendeliome v2.542 CSTB Rylee Peters Mode of inheritance for gene: CSTB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Severe Combined Immunodeficiency v2.6 Krithika Murali Added reviews for Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Disorders of immune dysregulation v2.11 Krithika Murali Copied Region ISCA-37446-Loss from panel Common deletion and duplication syndromes
Disorders of immune dysregulation v2.11 ISCA-37446-Loss Krithika Murali Region: ISCA-37446-Loss was added
Region: ISCA-37446-Loss was added to Disorders of immune dysregulation. Sources: ClinGen,Expert Review Green
SV/CNV tags were added to Region: ISCA-37446-Loss.
Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37446-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies
Fetal anomalies v2.76 RRAGC Zornitza Stark Marked gene: RRAGC as ready
Fetal anomalies v2.76 RRAGC Zornitza Stark Gene: rragc has been classified as Green List (High Evidence).
Fetal anomalies v2.76 Zornitza Stark Copied gene RRAGC from panel Mendeliome
Fetal anomalies v2.76 RRAGC Zornitza Stark gene: RRAGC was added
gene: RRAGC was added to Fetal anomalies. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 37057673; 27234373; 33057194
Phenotypes for gene: RRAGC were set to Long-Olsen syndrome, MIM# 620609
Inflammatory bowel disease v1.3 AIRE Tiarni Lee gene: AIRE was added
gene: AIRE was added to Inflammatory bowel disease. Sources: Literature,Expert Review
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 37067225; 23314667
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Penetrance for gene: AIRE were set to Complete
Review for gene: AIRE was set to GREEN
Added comment: Is currently in the congenital diarrhoea panel but not in IBD panel which we use for our VEO-IBD patients or treatment refractory patients; recommend including in IBD panel.
Sources: Literature, Expert Review
Ataxia v2.150 NARS1 Bryony Thompson Marked gene: NARS1 as ready
Ataxia v2.150 NARS1 Bryony Thompson Gene: nars1 has been classified as Green List (High Evidence).
Ataxia v2.150 NARS1 Bryony Thompson Classified gene: NARS1 as Green List (high evidence)
Ataxia v2.150 NARS1 Bryony Thompson Gene: nars1 has been classified as Green List (High Evidence).
Ataxia v2.149 NARS1 Bryony Thompson gene: NARS1 was added
gene: NARS1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NARS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS1 were set to 38495304; 32738225
Phenotypes for gene: NARS1 were set to Neurodevelopmental disorder, MONDO:0700092; neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, MONDO:0100348; neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, MONDO:0030837
Review for gene: NARS1 was set to GREEN
Added comment: Both dominant and recessive NARS1‑related neurodevelopmental disorders feature ataxia, aligning them with the Ataxia panel's scope.
Manole2020 reports eight unrelated families with de novo heterozygous NARS1 variants causing a dominant neurodevelopmental disorder with microcephaly, seizures and gait ataxia (toxic gain‑of‑function).
Beijer2024 describes a de novo in‑frame deletion in a single family causing a dominant neurodevelopmental disorder characterised by cerebellar ataxia, pyramidal signs, developmental delay, intellectual disability and peripheral neuropathy.
Manole2020 also identifies thirteen unrelated families with biallelic NARS1 variants resulting in a recessive neurodevelopmental disorder with microcephaly, impaired language and gait ataxia (partial loss‑of‑function).
Sources: Literature
Ataxia v2.148 TELO2 Sangavi Sivagnanasundram gene: TELO2 was added
gene: TELO2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 36797513
Phenotypes for gene: TELO2 were set to TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Review for gene: TELO2 was set to GREEN
Added comment: PMID 36797513 reports 13 individuals from 17 families with biallelic TELO2 variants presenting with developmental delay, intellectual disability, microcephaly and ataxia.
Ataxia is a prominent feature of this condition.
Sources: Literature
Ataxia v2.147 TARS2 Sangavi Sivagnanasundram gene: TARS2 was added
gene: TARS2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS2 were set to 37454282
Phenotypes for gene: TARS2 were set to combined oxidative phosphorylation defect type 21, MONDO:0014398
Review for gene: TARS2 was set to GREEN
Added comment: PMID 37454282 reports at least 5 unrelated families with biallelic TARS2 variants presenting with combined oxidative phosphorylation deficiency type 21, a mitochondrial disorder characterised by developmental delay, intellectual disability, progressive cerebellar ataxia, hypotonia, seizures and elevated lactate. Some of the affected individuals presented with an ataxic gait as well.
Sources: Literature
Ataxia v2.146 SRPK3 Sangavi Sivagnanasundram gene: SRPK3 was added
gene: SRPK3 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: SRPK3 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: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to intellectual developmental disorder, X-linked 114, MONDO:0975828
Review for gene: SRPK3 was set to AMBER
Added comment: PMID 39073169 reports two individuals presenting with intellectual disability, agenesis of the corpus callosum, cerebellar atrophy, abnormal eye movements and progressive ataxia and X-linked variants in SRPK3.
One of the variants c.1585G>A:p.Glu529Lys has a FAF of 0.006% in gnomAD v4.1 (96 hets and 32 hemizygotes globally).
Supportive knockout zebrafish models recapitulated the ocular and motor phenotype, including evidence of ataxia.
Sources: Literature
Ataxia v2.145 PIEZO2 Sangavi Sivagnanasundram gene: PIEZO2 was added
gene: PIEZO2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 27974811; 27653382
Phenotypes for gene: PIEZO2 were set to arthrogryposis, distal, with impaired proprioception and touch, MONDO:0014941
Review for gene: PIEZO2 was set to GREEN
Added comment: Distal arthrogryposis with impaired proprioception and touch characterised by reduced proprioceptive and tactile sensation, resulting in ataxia, impaired walking, dysmetria, muscle weakness and atrophy, and progressive joint contractures.

PMID 27974811 reports 1 individual from a consanguineous family (2nd-degree cousins) with a biallelic stop PIEZO2 variant causing distal arthrogryposis with sensory ataxia, proprioceptive loss, scoliosis and distal muscle weakness

PMID 27653382 reports 2 families with compound heterozygous truncating variants (and one missense variant) causing sensory ataxia with proprioceptive loss, progressive scoliosis and congenital joint contractures.
Sources: Literature
Ataxia v2.144 DYRK1A Sangavi Sivagnanasundram gene: DYRK1A was added
gene: DYRK1A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYRK1A were set to 40206408; 25944381
Phenotypes for gene: DYRK1A were set to DYRK1A-related intellectual disability syndrome, MONDO:0013578
Review for gene: DYRK1A was set to GREEN
Added comment: DYRK1A syndrome is associated with intellectual disability, speech impairment, autism spectrum disorder, and microcephaly. Affected individuals often share characteristic facial features and may experience feeding difficulties, seizures, hypertonia, walking abnormalities, and foot anomalies.

>5 unrelated individuals with monoallelic loss-of-function variants presented with ataxia/ataxic gait abnormalities.
Sources: Literature
Ataxia v2.143 NALCN Bryony Thompson gene: NALCN was added
gene: NALCN was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NALCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NALCN were set to 41153398; 37469362; 27633718; 25864427
Phenotypes for gene: NALCN were set to congenital contractures of the limbs and face, hypotonia, and developmental delay, MONDO:0014556
Review for gene: NALCN was set to GREEN
Added comment: PMID 25864427, PMID 27633718 and PMID 41153398 report 3 individuals from 3 families with heterozygous de novo missense variants in NALCN causing congenital contractures of the limbs and face, hypotonia, developmental delay and cerebellar ataxia. PMID 37469362 reports 1 proband with mild cerebellar atrophy but no ataxia at the time of assessment. Ataxia can be a feature of the condition.
Sources: Literature
Ataxia v2.142 MT-TL1 Bryony Thompson Marked gene: MT-TL1 as ready
Ataxia v2.142 MT-TL1 Bryony Thompson Gene: mt-tl1 has been classified as Green List (High Evidence).
Ataxia v2.142 MT-TL1 Bryony Thompson Classified gene: MT-TL1 as Green List (high evidence)
Ataxia v2.142 MT-TL1 Bryony Thompson Gene: mt-tl1 has been classified as Green List (High Evidence).
Ataxia v2.141 MT-TL1 Bryony Thompson gene: MT-TL1 was added
gene: MT-TL1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 40787093; 40707189; 37311680; 36684660; 35869996; 32821290; 32357846; 32357846; 29430542; 28458318
Phenotypes for gene: MT-TL1 were set to MERRF syndrome, MONDO:0010790; Mitochondrial disease, MONDO:0044970
Review for gene: MT-TL1 was set to GREEN
Added comment: MELAS syndrome with cerebellar ataxia, stroke‑like episodes and lactic acidosis—Bogdan2022 reports 1 family, PMID 32357846 reports 1 family, PMID 40707189 reports 1 family and PMID 28458318 reports 1 family (total 4 families, 4 independent).
MELAS/Kearns–Sayre overlap syndrome with progressive cerebellar ataxia, myoclonus epilepsy and ophthalmoplegia—Yu2018 reports 1 family (1 independent).
Adult‑onset cerebellar ataxia with diabetes mellitus and sensorineural hearing loss—Liao2023 reports 2 families (1 independent) carrying the recurrent m.3243A>G variant.
Wernicke‑Korsakoff syndrome with gait ataxia, memory loss and thalamic/mammillary lesions—Jimoh2020 reports 1 family (1 independent).
MERRF syndrome with myoclonic epilepsy, ataxia, proximal limb weakness, cerebellar atrophy and ragged‑red fibres—Huang2023 reports 1 family (1 independent).
Mitochondrial disease with cerebellar ataxia, progressive myopathy, seizures and nephrotic syndrome—Gillespie2025 reports 1 family (1 independent).

These mitochondrial disease phenotypes frequently include cerebellar ataxia, aligning with the Ataxia panel's focus on disorders where ataxia is a prominent feature; therefore MT‑TL1 is appropriate for inclusion as a diagnostic‑grade gene on this panel.
Sources: Literature
Ataxia v2.140 MT-TK Bryony Thompson Marked gene: MT-TK as ready
Ataxia v2.140 MT-TK Bryony Thompson Gene: mt-tk has been classified as Green List (High Evidence).
Ataxia v2.140 MT-TK Bryony Thompson Classified gene: MT-TK as Green List (high evidence)
Ataxia v2.140 MT-TK Bryony Thompson Gene: mt-tk has been classified as Green List (High Evidence).
Ataxia v2.139 MT-TK Bryony Thompson gene: MT-TK was added
gene: MT-TK was added to Ataxia. Sources: Literature
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Publications for gene: MT-TK were set to 34025555; 32538863; 29756269; 26995359; 25559684
Phenotypes for gene: MT-TK were set to MERRF syndrome, MONDO:0010790; Mitochondrial disease, MONDO:0044970
Review for gene: MT-TK was set to GREEN
Added comment: Variants in MT‑TK cause mitochondrial disease, most prominently MERRF syndrome, in which cerebellar ataxia is a frequent manifestation, and have also been reported in a rare MELAS/LS overlap presentation.

MERRF syndrome (mitochondrial disease with myoclonus, epilepsy, myopathy, cardiac involvement and ataxia) is associated with the heteroplasmic m.8344A>G mt‑tRNA Lys mutation in 26 independent families (56 patients) across Italian, German, Chinese and other cohorts; the phenotype includes cerebellar ataxia in a majority of cases.
Sources: Literature
Hereditary Neuropathy v2.101 FICD Zornitza Stark Marked gene: FICD as ready
Hereditary Neuropathy v2.101 FICD Zornitza Stark Gene: ficd has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.101 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Hereditary Neuropathy v2.101 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.101 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250
Hereditary Neuropathy v2.100 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Hereditary Neuropathy v2.100 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.100 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 to Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Hereditary Neuropathy v2.99 ELP1 Zornitza Stark Marked gene: ELP1 as ready
Hereditary Neuropathy v2.99 ELP1 Zornitza Stark Gene: elp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.99 ELP1 Zornitza Stark Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Hereditary Neuropathy v2.98 EGR2 Zornitza Stark Marked gene: EGR2 as ready
Hereditary Neuropathy v2.98 EGR2 Zornitza Stark Gene: egr2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.98 DYNC1H1 Zornitza Stark Marked gene: DYNC1H1 as ready
Hereditary Neuropathy v2.98 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.98 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to 21820100; 32788638; 27549087
Hereditary Neuropathy v2.97 DST Zornitza Stark Marked gene: DST as ready
Hereditary Neuropathy v2.97 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.97 DST Zornitza Stark Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839
Mendeliome v2.541 DRP2 Zornitza Stark edited their review of gene: DRP2: Changed phenotypes: Peripheral neuropathy, MONDO:0005244, DRP2-related
Mendeliome v2.541 DRP2 Zornitza Stark Phenotypes for gene: DRP2 were changed from Charcot Marie Tooth, intermediate X-linked; HMSN to Peripheral neuropathy, MONDO:0005244, DRP2-related
Hereditary Neuropathy v2.96 DRP2 Zornitza Stark Marked gene: DRP2 as ready
Hereditary Neuropathy v2.96 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.96 DRP2 Zornitza Stark Phenotypes for gene: DRP2 were changed from Charcot Marie Tooth, intermediate X-linked; HMSN to Peripheral neuropathy, MONDO:0005244, DRP2-related
Hereditary Neuropathy v2.95 DRP2 Zornitza Stark edited their review of gene: DRP2: Changed phenotypes: Peripheral neuropathy, MONDO:0005244, DRP2-related
Hereditary Neuropathy v2.95 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Hereditary Neuropathy v2.95 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.95 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424
Hereditary Neuropathy v2.94 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Hereditary Neuropathy v2.94 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.94 DNAJB2 Zornitza Stark Marked gene: DNAJB2 as ready
Hereditary Neuropathy v2.94 DNAJB2 Zornitza Stark Gene: dnajb2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.94 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Hereditary Neuropathy v2.94 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.94 DCTN1 Zornitza Stark Marked gene: DCTN1 as ready
Hereditary Neuropathy v2.94 DCTN1 Zornitza Stark Gene: dctn1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.94 CYP7B1 Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, MIM# 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v2.94 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Hereditary Neuropathy v2.94 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.94 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from HMSN; Cholestanol storage disease to Cerebrotendinous xanthomatosis MIM#213700
Hereditary Neuropathy v2.93 CYP27A1 Zornitza Stark Publications for gene: CYP27A1 were set to
Hereditary Neuropathy v2.92 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis MIM#213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v2.92 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Hereditary Neuropathy v2.92 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.92 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN to Charcot Marie Tooth disease, recessive intermediate D, MIM#616039; MONDO:0014467
Hereditary Neuropathy v2.91 COX20 Zornitza Stark edited their review of gene: COX20: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Hereditary Neuropathy v2.91 COX20 Zornitza Stark Marked gene: COX20 as ready
Hereditary Neuropathy v2.91 COX20 Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.91 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from sensory neuronopathy; sensory neuron disease; ganglionopathy to Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Hereditary Neuropathy v2.90 COA7 Zornitza Stark Marked gene: COA7 as ready
Hereditary Neuropathy v2.90 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.90 COA7 Zornitza Stark Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Hereditary Neuropathy v2.89 COA7 Zornitza Stark Publications for gene: COA7 were set to
Hereditary Neuropathy v2.88 CNBP_DM2_CCTG Zornitza Stark Marked STR: CNBP_DM2_CCTG as ready
Hereditary Neuropathy v2.88 CNBP_DM2_CCTG Zornitza Stark Str: cnbp_dm2_cctg has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.88 CNBP_DM2_CCTG Zornitza Stark Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Hereditary Neuropathy v2.87 CLP1 Zornitza Stark Marked gene: CLP1 as ready
Hereditary Neuropathy v2.87 CLP1 Zornitza Stark Gene: clp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.87 CLP1 Zornitza Stark Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia, type 10; dHMN/dSMA to Pontocerebellar hypoplasia, type 10 (MIM#615803)
Hereditary Neuropathy v2.86 CLP1 Zornitza Stark Publications for gene: CLP1 were set to
Hereditary Neuropathy v2.85 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Hereditary Neuropathy v2.85 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.85 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA to Spinal muscular atrophy, Jokela type, MIM# 615048
Hereditary Neuropathy v2.84 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to 22535186; 27066538
Hereditary Neuropathy v2.83 CADM3 Zornitza Stark Marked gene: CADM3 as ready
Hereditary Neuropathy v2.83 CADM3 Zornitza Stark Gene: cadm3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.83 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Hereditary Neuropathy v2.83 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.83 C19orf12 Zornitza Stark Phenotypes for gene: C19orf12 were changed from Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs to Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674)
Hereditary Neuropathy v2.82 C19orf12 Zornitza Stark Publications for gene: C19orf12 were set to
Hereditary Neuropathy v2.81 C19orf12 Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v2.80 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Hereditary Neuropathy v2.80 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.80 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to 14981520; 15732094
Hereditary Neuropathy v2.79 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Hereditary Neuropathy v2.79 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.79 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291
Hereditary Neuropathy v2.78 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Hereditary Neuropathy v2.78 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.78 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA to X-linked distal spinal muscular atrophy type 3 (MONDO:0010338)
Hereditary Neuropathy v2.77 ATP7A Zornitza Stark Publications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336
Hereditary Neuropathy v2.76 ATP1A1 Zornitza Stark Marked gene: ATP1A1 as ready
Hereditary Neuropathy v2.76 ATP1A1 Zornitza Stark Gene: atp1a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.76 ATL3 Zornitza Stark Marked gene: ATL3 as ready
Hereditary Neuropathy v2.76 ATL3 Zornitza Stark Gene: atl3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.76 ATL3 Zornitza Stark Phenotypes for gene: ATL3 were changed from Hereditary sensory neuropathy type IF; HSAN/SFN to neuropathy, hereditary sensory, type 1F (MONDO:0014286)
Hereditary Neuropathy v2.75 ATL3 Zornitza Stark Tag founder tag was added to gene: ATL3.
Hereditary Neuropathy v2.75 ATL1 Zornitza Stark Marked gene: ATL1 as ready
Hereditary Neuropathy v2.75 ATL1 Zornitza Stark Gene: atl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.75 ATL1 Zornitza Stark Phenotypes for gene: ATL1 were changed from HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381 to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381
Hereditary Neuropathy v2.74 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Hereditary Neuropathy v2.74 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.74 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy to Harel-Yoon Syndrome (MIM#6173183)
Hereditary Neuropathy v2.73 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Hereditary Neuropathy v2.72 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Hereditary Neuropathy v2.71 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Hereditary Neuropathy v2.71 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.71 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA to Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)
Hereditary Neuropathy v2.70 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Hereditary Neuropathy v2.69 ARHGAP19 Zornitza Stark Marked gene: ARHGAP19 as ready
Hereditary Neuropathy v2.69 ARHGAP19 Zornitza Stark Gene: arhgap19 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.69 AR_SBMA_CAG Zornitza Stark Marked STR: AR_SBMA_CAG as ready
Hereditary Neuropathy v2.69 AR_SBMA_CAG Zornitza Stark Str: ar_sbma_cag has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.69 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Hereditary Neuropathy v2.69 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.69 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities to Spastic paraplegia 9A, autosomal dominant MIM#601162
Hereditary Neuropathy v2.68 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Hereditary Neuropathy v2.67 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v2.66 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant MIM#601162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v2.66 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Hereditary Neuropathy v2.66 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.66 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Hereditary Neuropathy v2.65 ABHD12 Zornitza Stark Publications for gene: ABHD12 were set to
Hereditary Neuropathy v2.64 AARS1 Zornitza Stark Marked gene: AARS1 as ready
Hereditary Neuropathy v2.64 AARS1 Zornitza Stark Gene: aars1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.64 AARS1 Zornitza Stark Phenotypes for gene: AARS1 were changed from Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA to Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287
Hereditary Neuropathy v2.63 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Hereditary Neuropathy v2.63 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.63 GLDN Zornitza Stark Marked gene: GLDN as ready
Hereditary Neuropathy v2.63 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.63 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Hereditary Neuropathy v2.63 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.63 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Hereditary Neuropathy v2.63 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Ataxia v2.138 RFC4 Sangavi Sivagnanasundram Classified gene: RFC4 as Green List (high evidence)
Ataxia v2.138 RFC4 Sangavi Sivagnanasundram Gene: rfc4 has been classified as Green List (High Evidence).
Ataxia v2.137 RFC4 Sangavi Sivagnanasundram gene: RFC4 was added
gene: RFC4 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC4 were set to 39106866
Phenotypes for gene: RFC4 were set to Morimoto-Ryu-Malicdan neuromuscular syndrome, MONDO:0975848
Review for gene: RFC4 was set to GREEN
Added comment: PMID 39106866 reports four individuals from four unrelated families with biallelic RFC4 variants presenting with a multisystemic disorder that includes cerebellar ataxia, incoordination, muscle weakness, hearing impairment and reduced body weight. Two of the affected individuals also presented with gait ataxia.
Note: one of the reported variants has a high FAF in gnomAD v4.1 for an AR gene (c.996+2dup - FAF 0.0581%).
Sources: Literature
Hydrops fetalis v1.5 NPHS1 Krithika Murali Marked gene: NPHS1 as ready
Hydrops fetalis v1.5 NPHS1 Krithika Murali Gene: nphs1 has been classified as Green List (High Evidence).
Hydrops fetalis v1.5 Krithika Murali Added reviews for gene SGPL1 from panel Proteinuria
Hydrops fetalis v1.4 Krithika Murali Copied gene NPHS1 from panel Fetal anomalies
Hydrops fetalis v1.4 NPHS1 Krithika Murali gene: NPHS1 was added
gene: NPHS1 was added to Hydrops fetalis. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHS1 were set to 10577936; 17413422
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1 (MIM#256300)
Ataxia v2.136 NOTCH2NLC_NIID_GGC Bryony Thompson Marked STR: NOTCH2NLC_NIID_GGC as ready
Ataxia v2.136 NOTCH2NLC_NIID_GGC Bryony Thompson Str: notch2nlc_niid_ggc has been classified as Green List (High Evidence).
Ataxia v2.136 NOTCH2NLC_NIID_GGC Bryony Thompson changed review comment from: 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: Expert list; to: 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, ataxia.
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: Expert list
Ataxia v2.136 Bryony Thompson Copied STR NOTCH2NLC_NIID_GGC from panel Repeat Disorders
Ataxia v2.136 NOTCH2NLC_NIID_GGC Bryony Thompson STR: NOTCH2NLC_NIID_GGC was added
STR: NOTCH2NLC_NIID_GGC was added to Ataxia. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: NOTCH2NLC_NIID_GGC.
Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Intellectual disability syndromic and non-syndromic v2.135 ZNF536 Zornitza Stark Marked gene: ZNF536 as ready
Intellectual disability syndromic and non-syndromic v2.135 ZNF536 Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence).
Genetic Epilepsy v2.40 ZNF536 Zornitza Stark Marked gene: ZNF536 as ready
Genetic Epilepsy v2.40 ZNF536 Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence).
Autism v1.19 ZNF536 Zornitza Stark Marked gene: ZNF536 as ready
Autism v1.19 ZNF536 Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v2.135 Zornitza Stark Copied gene ZNF536 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v2.135 ZNF536 Zornitza Stark gene: ZNF536 was added
gene: ZNF536 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZNF536 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF536 were set to 42697193
Phenotypes for gene: ZNF536 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF536-related
Genetic Epilepsy v2.40 Zornitza Stark Copied gene ZNF536 from panel Mendeliome
Genetic Epilepsy v2.40 ZNF536 Zornitza Stark gene: ZNF536 was added
gene: ZNF536 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZNF536 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF536 were set to 42697193
Phenotypes for gene: ZNF536 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF536-related
Autism v1.19 Zornitza Stark Copied gene ZNF536 from panel Mendeliome
Autism v1.19 ZNF536 Zornitza Stark gene: ZNF536 was added
gene: ZNF536 was added to Autism. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ZNF536 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF536 were set to 42697193
Phenotypes for gene: ZNF536 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF536-related
Mendeliome v2.540 ZNF536 Zornitza Stark Marked gene: ZNF536 as ready
Mendeliome v2.540 ZNF536 Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence).
Mendeliome v2.540 ZNF536 Zornitza Stark Classified gene: ZNF536 as Green List (high evidence)
Mendeliome v2.540 ZNF536 Zornitza Stark Gene: znf536 has been classified as Green List (High Evidence).
Mendeliome v2.539 ZNF536 Zornitza Stark gene: ZNF536 was added
gene: ZNF536 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF536 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF536 were set to 42697193
Phenotypes for gene: ZNF536 were set to Neurodevelopmental disorder, MONDO:0700092, ZNF536-related
Review for gene: ZNF536 was set to GREEN
Added comment: PMID 42697193 reports 21 affected individuals with 18 unique, rare, heterozygous, protein-altering ZNF536 variants. Most variants (15/18) were predicted loss-of-function (LoF) alleles, with the remainder being missense variants. Among families with available inheritance data (17/20), most variants arose de novo (12/17), while others were inherited from mosaic or mildly affected parents (5/17).

Affected individuals presented with developmental delay, autism spectrum disorder, intellectual disability, hyperactivity, aggressive behavior, anxiety, and hyperphagia; epilepsy and sleep disturbances were also frequently observed.

Homozygous mice with a Zfp536p.Gln169Ter knock-in were non-viable, while heterozygotes survived but displayed autism-like behaviours, increased anxiety, and impaired recognition memory. Embryonic brain analysis revealed reduced cortical size, cortical thickness, and decreased deep-layer neuronal density.
Sources: Literature
Ataxia v2.135 PYCR2 Sangavi Sivagnanasundram gene: PYCR2 was added
gene: PYCR2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR2 were set to 27860360; 27130255
Phenotypes for gene: PYCR2 were set to hypomyelinating leukodystrophy 10, MONDO:0014632
Review for gene: PYCR2 was set to GREEN
Added comment: PMID 27860360 reports only one individual with homozygous c.577G>A p.Val193Met variants presenting with progressive microcephaly, severe global developmental delay, failure to thrive, hypomyelinating leukodystrophy and an ataxic gait.

PMID: 27130255 reports 11 families (10 consanguineous families) with homozygous PYCR2 variants presenting with a range of neurodevelopmental phenotypes including ataxia, failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity.
Sources: Literature
Ataxia v2.134 PTPMT1 Sangavi Sivagnanasundram gene: PTPMT1 was added
gene: PTPMT1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645
Phenotypes for gene: PTPMT1 were set to Neurodevelopmental disorder with ataxia and brain abnormalities MONDO:0978300
Review for gene: PTPMT1 was set to GREEN
Added comment: Neurodevelopmental disorder with ataxia and brain abnormalities (NEDAXBA) is characterised by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset.

PMID 39279645 reports five individuals from two consanguineous families with biallelic loss-of-function PTPMT1 variants presenting with infantile-onset cerebellar ataxia, developmental delay, microcephaly, epilepsy, sensorineural hearing loss and optic atrophy. Patient fibroblast rescue of mitochondrial fragmentation and a zebrafish ptpmt1 knockout recapitulating mitochondrial dysfunction support pathogenicity.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.7 SDHA TRAIL SCHN gene: SDHA was added
gene: SDHA was added to Genomic newborn screening: BabyScreen+. Sources: Expert Review
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: SDHA was set to AMBER
Added comment: Please tag as "TRAIL Study"

Rationale: Clinician supported inclusion
Sources: Expert Review
Ataxia v2.133 POLR2A Sangavi Sivagnanasundram gene: POLR2A was added
gene: POLR2A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2A were set to 33665635
Phenotypes for gene: POLR2A were set to neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MONDO:0032829
Review for gene: POLR2A was set to GREEN
Added comment: Ataxia isn't a prominent feature in all POLR2A-affected individuals; however, it can be a presenting feature in most individuals.
PMID 33665635 reports 7/12 individuals with heterozygous POLR2A variants presenting with a neurodevelopmental disorder featuring ataxia, developmental delay, seizures, hypotonia, joint hypermobility and short stature.
Sources: Literature
Ataxia v2.132 PIGK Sangavi Sivagnanasundram gene: PIGK was added
gene: PIGK was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MONDO:0030037
Review for gene: PIGK was set to GREEN
Added comment: PMID 32220290 reports 5 of 8 individuals (four independent families) with biallelic PIGK variants presenting with developmental delay/intellectual disability, hypotonia, cerebellar atrophy, cerebellar ataxia, epilepsy and dysmorphic features.
Ataxia is a prominent feature of this condition.
Sources: Literature
Ataxia v2.131 PAK1 Sangavi Sivagnanasundram gene: PAK1 was added
gene: PAK1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to intellectual developmental disorder with macrocephaly, seizures, and speech delay, MONDO:0032568
Mode of pathogenicity for gene: PAK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PAK1 was set to GREEN
Added comment: PMID 30290153 reports 2 individuals from 2 families with de novo heterozygous PAK1 missense variants presenting with developmental delay, macrocephaly, seizures and ataxic gait. Patient fibroblast assays show gain‑of‑function effects (increased JNK/AKT phosphorylation, reduced dimerisation, enhanced filopodia) that are rescued by the PAK1 inhibitor FRAX486.
Ataxia is a prominent feature of this condition.
Sources: Literature
Fetal anomalies v2.75 CDK5RAP3 Zornitza Stark Marked gene: CDK5RAP3 as ready
Fetal anomalies v2.75 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v2.75 CDK5RAP3 Zornitza Stark Tag founder tag was added to gene: CDK5RAP3.
Multiple pterygium syndrome_Fetal akinesia sequence v2.1 CDK5RAP3 Zornitza Stark Marked gene: CDK5RAP3 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v2.1 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v2.1 CDK5RAP3 Zornitza Stark Tag founder tag was added to gene: CDK5RAP3.
Ataxia v2.130 OGDHL Sangavi Sivagnanasundram Classified gene: OGDHL as Green List (high evidence)
Ataxia v2.130 OGDHL Sangavi Sivagnanasundram Gene: ogdhl has been classified as Green List (High Evidence).
Ataxia v2.129 OGDHL Sangavi Sivagnanasundram gene: OGDHL was added
gene: OGDHL was added to Ataxia. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to Yoon-Bellen neurodevelopmental syndrome, MONDO:0859221
Review for gene: OGDHL was set to GREEN
Added comment: Affected individuals with biallelic mutations in OGDHL present with gait ataxia, epilepsy, hearing loss, visual impairment, and developmental delay. 4 of 8 families reported ataxia as a presenting phenotype.
Functional studies in Drosophila and human neuronal cells demonstrate loss of OGDHL function.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v2.6 CDK5RAP3 Zornitza Stark Marked gene: CDK5RAP3 as ready
Cerebellar and Pontocerebellar Hypoplasia v2.6 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v2.6 CDK5RAP3 Zornitza Stark Tag founder tag was added to gene: CDK5RAP3.
Arthrogryposis v2.4 CDK5RAP3 Zornitza Stark Marked gene: CDK5RAP3 as ready
Arthrogryposis v2.4 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v2.4 CDK5RAP3 Zornitza Stark Tag founder tag was added to gene: CDK5RAP3.
Mendeliome v2.538 CDK5RAP3 Zornitza Stark Tag founder tag was added to gene: CDK5RAP3.
Multiple pterygium syndrome_Fetal akinesia sequence v2.1 Zornitza Stark Copied gene CDK5RAP3 from panel Mendeliome
Multiple pterygium syndrome_Fetal akinesia sequence v2.1 CDK5RAP3 Zornitza Stark gene: CDK5RAP3 was added
gene: CDK5RAP3 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK5RAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP3 were set to 42045457
Phenotypes for gene: CDK5RAP3 were set to Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related
Fetal anomalies v2.75 Zornitza Stark Copied gene CDK5RAP3 from panel Mendeliome
Fetal anomalies v2.75 CDK5RAP3 Zornitza Stark gene: CDK5RAP3 was added
gene: CDK5RAP3 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK5RAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP3 were set to 42045457
Phenotypes for gene: CDK5RAP3 were set to Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related
Cerebellar and Pontocerebellar Hypoplasia v2.6 Zornitza Stark Copied gene CDK5RAP3 from panel Mendeliome
Cerebellar and Pontocerebellar Hypoplasia v2.6 CDK5RAP3 Zornitza Stark gene: CDK5RAP3 was added
gene: CDK5RAP3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK5RAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP3 were set to 42045457
Phenotypes for gene: CDK5RAP3 were set to Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related
Arthrogryposis v2.4 Zornitza Stark Copied gene CDK5RAP3 from panel Mendeliome
Arthrogryposis v2.4 CDK5RAP3 Zornitza Stark gene: CDK5RAP3 was added
gene: CDK5RAP3 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK5RAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5RAP3 were set to 42045457
Phenotypes for gene: CDK5RAP3 were set to Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related
Mendeliome v2.538 CDK5RAP3 Zornitza Stark Marked gene: CDK5RAP3 as ready
Mendeliome v2.538 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Ataxia v2.128 NDUFA13 Sangavi Sivagnanasundram Classified gene: NDUFA13 as Green List (high evidence)
Ataxia v2.128 NDUFA13 Sangavi Sivagnanasundram Gene: ndufa13 has been classified as Green List (High Evidence).
Mendeliome v2.538 CDK5RAP3 Zornitza Stark Phenotypes for gene: CDK5RAP3 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related
Ataxia v2.127 NDUFA13 Sangavi Sivagnanasundram changed review comment from: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy.
Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys).
Sources: Literature; to: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy.
Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys) FAF
0.06%.
Sources: Literature
Mendeliome v2.537 CDK5RAP3 Zornitza Stark Classified gene: CDK5RAP3 as Amber List (moderate evidence)
Mendeliome v2.537 CDK5RAP3 Zornitza Stark Gene: cdk5rap3 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.536 CDK5RAP3 Zornitza Stark reviewed gene: CDK5RAP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDK5RAP3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.127 NDUFA13 Sangavi Sivagnanasundram gene: NDUFA13 was added
gene: NDUFA13 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA13 were set to 39963288
Phenotypes for gene: NDUFA13 were set to mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632
Review for gene: NDUFA13 was set to GREEN
Added comment: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy.
Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys).
Sources: Literature
Ataxia v2.126 MYORG Sangavi Sivagnanasundram gene: MYORG was added
gene: MYORG was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MYORG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYORG were set to 39180105; 32451491
Phenotypes for gene: MYORG were set to basal ganglia calcification, idiopathic, 7, autosomal recessive, MONDO:0032673
Review for gene: MYORG was set to GREEN
Added comment: PMID 32451491 and 39180105 report 5 families with biallelic MYORG variants causing primary familial brain calcification with cerebellar ataxia, pyramidal signs and dysarthria.
Ataxia is a prominent feature of this condition.
Sources: Literature
Hereditary Pigmentary Disorders v2.0 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Haematological malignancies v0.148 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Mackenzie's Mission_Reproductive Carrier Screening v1.0 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Fetal anomalies v2.74 RNU4-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU4-2.
Prepair 500+ v3.0 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Mackenzie's Mission_Reproductive Carrier Screening v1.0 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Haematological malignancies v0.148 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Genomic newborn screening: BabyScreen+ v2.7 MIR96 Zornitza Stark Tag non-coding gene tag was added to gene: MIR96.
Corneal Dystrophy v2.4 MIR184 Zornitza Stark Tag non-coding gene tag was added to gene: MIR184.
Ataxia v2.125 MTO1 Sangavi Sivagnanasundram gene: MTO1 was added
gene: MTO1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 29331171
Phenotypes for gene: MTO1 were set to Mitochondrial disease, MONDO:0044970
Review for gene: MTO1 was set to GREEN
Added comment: PMID 29331171 reports 7 individuals from 7 families with biallelic MTO1 variants presenting with ataxia, lactic acidosis, developmental delay/intellectual disability, cardiomyopathy and combined oxidative phosphorylation deficiency. The condition is a mitochondrial disorder, and ataxia is a core neurological manifestation.
Sources: Literature
Ataxia v2.124 EIF2AK2 Sangavi Sivagnanasundram gene: EIF2AK2 was added
gene: EIF2AK2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 37284702; 32197074
Phenotypes for gene: EIF2AK2 were set to leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MONDO:0030035
Review for gene: EIF2AK2 was set to GREEN
Added comment: PMID 32197074 reports six individuals with heterozygous missense EIF2AK2 variants presenting with developmental delay, leukoencephalopathy and progressive ataxia (gait or truncal ataxia.
PMID 37284702 reports another individual with a de novo heterozygous variant and nystagmus, hypotonia, global developmental delay, ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination.
All the reported missense variants are rare or absent in gnomAD v4.
Sources: Literature
Ataxia v2.123 CYP7B1 Sangavi Sivagnanasundram gene: CYP7B1 was added
gene: CYP7B1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 40782215; 29126212
Phenotypes for gene: CYP7B1 were set to hereditary spastic paraplegia 5A, MONDO:0010047
Review for gene: CYP7B1 was set to GREEN
Added comment: PMID 29126212 and 40782215 report multiple individuals with autosomal recessive hereditary spastic paraplegia type 5 (SPG5) characterised by progressive spastic gait and gait ataxia.
Sources: Literature
Ataxia v2.122 CTNNB1 Sangavi Sivagnanasundram gene: CTNNB1 was added
gene: CTNNB1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to 39935833; 35880249
Phenotypes for gene: CTNNB1 were set to CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571
Review for gene: CTNNB1 was set to GREEN
Added comment: Ataxia is a presenting feature of this GDA.

PMID 35880249 reports 1 individual from 1 family and PMID 39935833 reports 2 individuals from 2 families, all with de novo heterozygous CTNNB1 variants presenting with neurodevelopmental disorder with spastic diplegia, visual defects, microcephaly, severe developmental delay and ataxic gait.
Sources: Literature
Ataxia v2.121 MT-ND5 Bryony Thompson Marked gene: MT-ND5 as ready
Ataxia v2.121 MT-ND5 Bryony Thompson Gene: mt-nd5 has been classified as Green List (High Evidence).
Ataxia v2.121 MT-ND5 Bryony Thompson Classified gene: MT-ND5 as Green List (high evidence)
Ataxia v2.121 MT-ND5 Bryony Thompson Gene: mt-nd5 has been classified as Green List (High Evidence).
Ataxia v2.120 MT-ND5 Bryony Thompson gene: MT-ND5 was added
gene: MT-ND5 was added to Ataxia. Sources: Literature
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 35719398; 34025555; 29506874
Phenotypes for gene: MT-ND5 were set to Leber hereditary optic neuropathy, MONDO:0010788; MELAS syndrome, MONDO:0010789; Mitochondrial disease, MONDO:0044970
Review for gene: MT-ND5 was set to GREEN
Added comment: MT-ND5 encodes a subunit of mitochondrial Complex I and pathogenic variants are linked to a spectrum of mitochondrial disorders that can feature cerebellar ataxia, a core phenotype for the Ataxia panel.

Ng2018 reports six individuals from five families with a maternally inherited m.13094T>C (p.Val253Ala) variant presenting with progressive cerebellar ataxia; the cohort provides five independent families.

Barone2022 describes a single case with the heteroplasmic m.13513G>A (p.D393N) variant causing Leber hereditary optic neuropathy together with adult‑onset nephropathy, sensorineural deafness and cerebellar atrophy.

Wei2021 aggregates six individuals from six families harbouring the recurrent m.13513G>A variant with MELAS/Leigh overlap syndrome, where ataxia is a prominent feature of the Leigh component.
Sources: Literature
Ataxia v2.119 MPZ Bryony Thompson Marked gene: MPZ as ready
Ataxia v2.119 MPZ Bryony Thompson Gene: mpz has been classified as Green List (High Evidence).
Ataxia v2.119 MPZ Bryony Thompson Classified gene: MPZ as Green List (high evidence)
Ataxia v2.119 MPZ Bryony Thompson Gene: mpz has been classified as Green List (High Evidence).
Ataxia v2.118 MPZ Bryony Thompson gene: MPZ was added
gene: MPZ was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MPZ were set to 33960567
Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease type 1B, MONDO:0007307
Review for gene: MPZ was set to GREEN
Added comment: PMID 33960567 reports 6 individuals from 6 families with heterozygous truncating MPZ variants presenting with adult-onset sensory ataxia, mild weakness and demyelinating neuropathy (CMT1B); four variants arose de novo and the recurrent p.Asp104fs variant was observed in multiple families. MPZ is relevant to the Ataxia panel because sensory ataxia is a core feature of the disorder.
Sources: Literature
Ataxia v2.117 MLC1 Bryony Thompson Marked gene: MLC1 as ready
Ataxia v2.117 MLC1 Bryony Thompson Gene: mlc1 has been classified as Green List (High Evidence).
Ataxia v2.117 MLC1 Bryony Thompson Classified gene: MLC1 as Green List (high evidence)
Ataxia v2.117 MLC1 Bryony Thompson Gene: mlc1 has been classified as Green List (High Evidence).
Ataxia v2.116 MLC1 Bryony Thompson gene: MLC1 was added
gene: MLC1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLC1 were set to 41483250; 35468122; 34918859; 31942423
Phenotypes for gene: MLC1 were set to megalencephalic leukoencephalopathy with subcortical cysts 1, MONDO:0024555
Review for gene: MLC1 was set to GREEN
Added comment: Four studies together describe 35 individuals from three independent consanguineous families carrying biallelic loss‑of‑function MLC1 variants (homozygous missense p.Ser93Leu, splice‑site c.768+2T>C, and missense p.Cys85Trp). Segregation is confirmed in the families reported by PMID 34918859 and PMID 31942423; the PMID 35468122 variant is recurrent in a distinct South‑American cohort, satisfying the qualifying‑variant gate. The multicentre Italian cohort (PMID 41483250) adds 27 further patients, confirming the classic macrocephaly, developmental delay, cerebellar ataxia, spasticity and subcortical cysts phenotype.
Sources: Literature
Ataxia v2.115 MINPP1 Bryony Thompson Marked gene: MINPP1 as ready
Ataxia v2.115 MINPP1 Bryony Thompson Gene: minpp1 has been classified as Green List (High Evidence).
Ataxia v2.115 MINPP1 Bryony Thompson Classified gene: MINPP1 as Green List (high evidence)
Ataxia v2.115 MINPP1 Bryony Thompson Gene: minpp1 has been classified as Green List (High Evidence).
Ataxia v2.114 MINPP1 Bryony Thompson gene: MINPP1 was added
gene: MINPP1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 40508022; 33257696; 33168985
Phenotypes for gene: MINPP1 were set to pontocerebellar hypoplasia, MONDO:0020135
Review for gene: MINPP1 was set to GREEN
Added comment: PMID 33168985, PMID 33257696, and PMID 40508022 report a total of 18 individuals from 12 families with biallelic loss-of-function MINPP1 variants causing pontocerebellar hypoplasia, a severe neurodevelopmental disorder characterised by cerebellar and pontine hypoplasia, ataxia and profound developmental delay.
Sources: Literature
Ataxia v2.113 MICU1 Bryony Thompson Marked gene: MICU1 as ready
Ataxia v2.113 MICU1 Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence).
Ataxia v2.113 MICU1 Bryony Thompson Classified gene: MICU1 as Green List (high evidence)
Ataxia v2.113 MICU1 Bryony Thompson Gene: micu1 has been classified as Green List (High Evidence).
Ataxia v2.112 MICU1 Bryony Thompson gene: MICU1 was added
gene: MICU1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 40434710; 38380193; 33969448; 33428302
Phenotypes for gene: MICU1 were set to proximal myopathy with extrapyramidal signs, MONDO:0014300
Review for gene: MICU1 was set to GREEN
Added comment: Four families with biallelic loss-of-function MICU1 variants are reported across four studies. Affected individuals present with childhood‑onset proximal muscle weakness, markedly elevated CK, developmental delay and extrapyramidal manifestations including ataxia, matching the phenotype of proximal myopathy with extrapyramidal signs.
Sources: Literature
Ataxia v2.111 MFSD8 Bryony Thompson Marked gene: MFSD8 as ready
Ataxia v2.111 MFSD8 Bryony Thompson Gene: mfsd8 has been classified as Green List (High Evidence).
Ataxia v2.111 MFSD8 Bryony Thompson Classified gene: MFSD8 as Green List (high evidence)
Ataxia v2.111 MFSD8 Bryony Thompson Gene: mfsd8 has been classified as Green List (High Evidence).
Ataxia v2.110 MFSD8 Bryony Thompson gene: MFSD8 was added
gene: MFSD8 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD8 were set to 41045016; 39108195; 38153683; 37090936; 35216386; 30144815; 27146152
Phenotypes for gene: MFSD8 were set to neuronal ceroid lipofuscinosis 7, MONDO:0012588
Review for gene: MFSD8 was set to GREEN
Added comment: PMID 41045016 reports five male patients from four families (one independent founder origin) with adult‑onset isolated cerebellar ataxia due to homozygous MFSD8 p.Ile312Thr; PMID 39108195 adds three unrelated families (including two with the same variant and one compound‑heterozygous) presenting with cerebellar ataxia and macular dystrophy; PMID 38153683 describes two siblings from a consanguineous Egyptian family harbouring a homozygous missense c.638C>A variant and a classic CLN7 phenotype of neurodevelopmental regression, seizures and gait ataxia; PMID 30144815 reports a single Russian patient with a homozygous nonsense c.525T>A variant and early‑onset CLN7 features; PMID 27146152 identifies a homozygous nonsense c.1213C>T variant in a child with early‑onset ataxic gait and cerebellar atrophy; PMID 37090936 presents a case with a homozygous splice‑site c.753A>G variant and cerebellar ataxia, myoclonus and visual loss; and PMID 35216386 reports two Turkish siblings homozygous for a synonymous c.750A>G variant causing exon‑8 skipping and CLN7 with cerebellar ataxia.
Sources: Literature
Cardiomyopathy_Paediatric v1.359 Zornitza Stark removed gene:DHCR7 from the panel
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Gene: cyc1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.358 CYC1 Zornitza Stark Phenotypes for gene: CYC1 were changed from Mitochondrial complex III deficiency, nuclear type 6, 615453 to Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453
Cardiomyopathy_Paediatric v1.357 CYC1 Zornitza Stark reviewed gene: CYC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.536 CTF1 Zornitza Stark Marked gene: CTF1 as ready
Mendeliome v2.536 CTF1 Zornitza Stark Gene: ctf1 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v2.10 CTF1 Zornitza Stark Marked gene: CTF1 as ready
Dilated Cardiomyopathy v2.10 CTF1 Zornitza Stark Gene: ctf1 has been classified as Red List (Low Evidence).
Mendeliome v2.536 Zornitza Stark Copied gene CTF1 from panel Cardiomyopathy_Paediatric
Mendeliome v2.536 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Mendeliome. Sources: Expert Review Red,South West GLH,NHS GMS
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTF1 were set to 11058912; 24503780; 26084686; 7862649; 8833032; 12234945; 24366078; 21771897; 22733458
Phenotypes for gene: CTF1 were set to dilated cardiomyopathy MONDO:0005021, CTF1-related
Dilated Cardiomyopathy v2.10 Zornitza Stark Copied gene CTF1 from panel Cardiomyopathy_Paediatric
Dilated Cardiomyopathy v2.10 CTF1 Zornitza Stark gene: CTF1 was added
gene: CTF1 was added to Dilated Cardiomyopathy. Sources: Expert Review Red,South West GLH,NHS GMS
Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTF1 were set to 11058912; 24503780; 26084686; 7862649; 8833032; 12234945; 24366078; 21771897; 22733458
Phenotypes for gene: CTF1 were set to dilated cardiomyopathy MONDO:0005021, CTF1-related
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Marked gene: CTF1 as ready
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Gene: ctf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.357 CTF1 Zornitza Stark Phenotypes for gene: CTF1 were changed from to dilated cardiomyopathy MONDO:0005021, CTF1-related
Cardiomyopathy_Paediatric v1.356 CTF1 Zornitza Stark Publications for gene: CTF1 were set to
Cardiomyopathy_Paediatric v1.355 CTF1 Zornitza Stark reviewed gene: CTF1: Rating: RED; Mode of pathogenicity: None; Publications: 11058912, 24503780, 26084686, 7862649, 8833032, 12234945, 24366078, 21771897, 22733458; Phenotypes: dilated cardiomyopathy MONDO:0005021, CTF1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.355 Zornitza Stark removed gene:CPS1 from the panel
Cardiomyopathy_Paediatric v1.354 Zornitza Stark removed gene:COX6A1 from the panel
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Marked gene: COA8 as ready
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Gene: coa8 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.353 COA8 Zornitza Stark Phenotypes for gene: COA8 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061
Cardiomyopathy_Paediatric v1.352 COA8 Zornitza Stark reviewed gene: COA8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.352 Zornitza Stark removed gene:COA7 from the panel
Cardiomyopathy_Paediatric v1.351 Zornitza Stark removed gene:BTK from the panel
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.350 B3GAT3 Zornitza Stark Phenotypes for gene: B3GAT3 were changed from Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Cardiomyopathy_Paediatric v1.349 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.109 MED27 Bryony Thompson Marked gene: MED27 as ready
Ataxia v2.109 MED27 Bryony Thompson Gene: med27 has been classified as Green List (High Evidence).
Ataxia v2.109 MED27 Bryony Thompson Classified gene: MED27 as Green List (high evidence)
Ataxia v2.109 MED27 Bryony Thompson Gene: med27 has been classified as Green List (High Evidence).
Ataxia v2.108 MED27 Bryony Thompson gene: MED27 was added
gene: MED27 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 41017421; 37517035
Phenotypes for gene: MED27 were set to neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MONDO:0859137
Review for gene: MED27 was set to GREEN
Added comment: PMID 41017421 and PMID 37517035 together report a neurodevelopmental disorder with spasticity, cataracts, cerebellar hypoplasia/ataxia, intellectual disability and developmental delay caused by biallelic MED27 variants. Across the two studies 57 affected individuals from up to 60 families (38 independent origins after collapsing recurrent variants) are described, with core features of gait ataxia, cataracts, spasticity and cerebellar atrophy.
Sources: Literature
Ataxia v2.107 MED13L Bryony Thompson Marked gene: MED13L as ready
Ataxia v2.107 MED13L Bryony Thompson Gene: med13l has been classified as Green List (High Evidence).
Ataxia v2.107 MED13L Bryony Thompson Classified gene: MED13L as Green List (high evidence)
Ataxia v2.107 MED13L Bryony Thompson Gene: med13l has been classified as Green List (High Evidence).
Ataxia v2.106 MED13L Bryony Thompson gene: MED13L was added
gene: MED13L was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED13L were set to 29511999
Phenotypes for gene: MED13L were set to syndromic intellectual disability, MONDO:0000508
Review for gene: MED13L was set to GREEN
Added comment: PMID 29511999 reports 36 individuals from 35 families with heterozygous de novo loss-of-function or missense variants in MED13L, presenting with intellectual disability, severe speech impairment, hypotonia and ataxia (observed in ~34% of cases). The gene acts via haploinsufficiency (loss-of-function) with an autosomal dominant de novo inheritance pattern and no contradictory evidence.
Sources: Literature
Ataxia v2.105 MBOAT7 Bryony Thompson Marked gene: MBOAT7 as ready
Ataxia v2.105 MBOAT7 Bryony Thompson Gene: mboat7 has been classified as Green List (High Evidence).
Ataxia v2.105 MBOAT7 Bryony Thompson Classified gene: MBOAT7 as Green List (high evidence)
Ataxia v2.105 MBOAT7 Bryony Thompson Gene: mboat7 has been classified as Green List (High Evidence).
Ataxia v2.104 MBOAT7 Bryony Thompson gene: MBOAT7 was added
gene: MBOAT7 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBOAT7 were set to 30701556
Phenotypes for gene: MBOAT7 were set to complex neurodevelopmental disorder, MONDO:0100038
Review for gene: MBOAT7 was set to GREEN
Added comment: PMID 30701556 reports 12 individuals from 7 consanguineous Turkish families (5 independent) with biallelic loss‑of‑function variants in MBOAT7 presenting with global developmental delay, severe speech impairment, intellectual disability, early‑onset epilepsy and a characteristic wide‑based ataxic gait with cerebellar dysgenesis. This neurodevelopmental disorder with prominent ataxia aligns with the Ataxia panel’s scope, as ataxic gait is a core feature of the phenotype.
Sources: Literature
Ataxia v2.103 MAN2B1 Bryony Thompson Marked gene: MAN2B1 as ready
Ataxia v2.103 MAN2B1 Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence).
Ataxia v2.103 MAN2B1 Bryony Thompson Classified gene: MAN2B1 as Green List (high evidence)
Ataxia v2.103 MAN2B1 Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence).
Ataxia v2.102 MAN2B1 Bryony Thompson gene: MAN2B1 was added
gene: MAN2B1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 35242565; 34486965
Phenotypes for gene: MAN2B1 were set to alpha-mannosidosis, MONDO:0009561
Review for gene: MAN2B1 was set to GREEN
Added comment: PMID 35242565 reports 12 individuals from 9 families and PMID 34486965 reports 1 individual from 1 family with autosomal recessive alpha‑mannosidosis presenting with childhood‑onset progressive ataxia, hearing loss, intellectual disability and immune deficiency. In total, 13 patients from 10 families (4 independent) carry biallelic loss‑of‑function MAN2B1 variants, including three families with truncating null alleles and one family with a missense allele (c.1061C>T) with variant‑specific functional validation. The disease is a lysosomal storage disorder with a recognisable multisystem phenotype that includes ataxia, making MAN2B1 relevant to the Ataxia panel.
Sources: Literature
Ataxia v2.101 MAB21L1 Bryony Thompson Marked gene: MAB21L1 as ready
Ataxia v2.101 MAB21L1 Bryony Thompson Gene: mab21l1 has been classified as Green List (High Evidence).
Ataxia v2.101 MAB21L1 Bryony Thompson Classified gene: MAB21L1 as Green List (high evidence)
Ataxia v2.101 MAB21L1 Bryony Thompson Gene: mab21l1 has been classified as Green List (High Evidence).
Ataxia v2.100 MAB21L1 Bryony Thompson gene: MAB21L1 was added
gene: MAB21L1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774
Review for gene: MAB21L1 was set to GREEN
Added comment: PMID 30487245 reports 10 individuals from 5 families with biallelic loss-of-function variants in MAB21L1 presenting with Cerebello-Oculo-Facio-Genital (COFG) syndrome, characterised by cerebellar hypoplasia with ataxia, ocular anomalies, distinctive facial features and genital anomalies. This gene is relevant to the Ataxia panel because the syndrome includes cerebellar hypoplasia and ataxia, core features of the panel's scope.
Sources: Literature
Ataxia v2.99 LYST Bryony Thompson Marked gene: LYST as ready
Ataxia v2.99 LYST Bryony Thompson Gene: lyst has been classified as Green List (High Evidence).
Ataxia v2.99 LYST Bryony Thompson Classified gene: LYST as Green List (high evidence)
Ataxia v2.99 LYST Bryony Thompson Gene: lyst has been classified as Green List (High Evidence).
Ataxia v2.98 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Ataxia. Sources: Literature
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 34483340; 28193763; 26944273; 26307451
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MONDO:0008963
Review for gene: LYST was set to GREEN
Added comment: Multiple studies report that biallelic loss‑of‑function variants in LYST cause Chediak‑Higashi syndrome, a Mendelian lysosomal trafficking disorder that frequently includes cerebellar ataxia. PMID 34483340 describes four families (two independent) with spastic paraplegia, cerebellar ataxia and intellectual disability; PMID 26307451 reports a single adult‑onset family of three siblings with ataxia, parkinsonism and spastic paraparesis; PMID 26944273 (and the overlapping PMID 28193763 cohort) document nine patients from seven families (six independent) with childhood‑onset cerebellar ataxia and progressive neurodegeneration. Across the literature 12 families (9 independent) harbour qualifying biallelic truncating or nonsense LYST variants.
Sources: Literature
Ataxia v2.97 LRSAM1 Bryony Thompson Marked gene: LRSAM1 as ready
Ataxia v2.97 LRSAM1 Bryony Thompson Gene: lrsam1 has been classified as Green List (High Evidence).
Ataxia v2.97 LRSAM1 Bryony Thompson Classified gene: LRSAM1 as Green List (high evidence)
Ataxia v2.97 LRSAM1 Bryony Thompson Gene: lrsam1 has been classified as Green List (High Evidence).
Ataxia v2.96 LRSAM1 Bryony Thompson gene: LRSAM1 was added
gene: LRSAM1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRSAM1 were set to 30996334
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease axonal type 2P, MONDO:0013753
Review for gene: LRSAM1 was set to GREEN
Added comment: PMID 30996334 reports 72 individuals from 8 families (5 independent) with heterozygous in‑frame LRSAM1 variants presenting with adult‑onset sensory ataxia, neuropathic pain and length‑dependent sensory loss. This dominant‑negative mechanism causes Charcot‑Marie‑Tooth disease type 2P, an ataxic neuropathy that falls within the Ataxia panel’s scope of disorders featuring prominent ataxia.
Sources: Literature
Ataxia v2.95 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Ataxia v2.95 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Ataxia v2.95 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Ataxia v2.95 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Ataxia v2.94 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Ataxia. Sources: Literature
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 42205672; 40870031; 40660807; 38716347; 37275239; 36462087; 33061758
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, MONDO:0009370
Review for gene: L2HGDH was set to GREEN
Added comment: PMID 36462087, PMID 37275239, PMID 33061758, PMID 40660807, PMID 38716347, PMID 40870031 and PMID 42205672 together report 52 individuals from 38 families with biallelic L2HGDH loss‑of‑function variants presenting with L‑2‑hydroxyglutaric aciduria, characterised by progressive cerebellar ataxia, developmental delay, seizures and movement disorders.
Sources: Literature
Ataxia v2.93 KIF5A Bryony Thompson Marked gene: KIF5A as ready
Ataxia v2.93 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Ataxia v2.93 KIF5A Bryony Thompson Classified gene: KIF5A as Green List (high evidence)
Ataxia v2.93 KIF5A Bryony Thompson Gene: kif5a has been classified as Green List (High Evidence).
Ataxia v2.92 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 40518753; 31286494; 30778698; 30480035; 29892902
Phenotypes for gene: KIF5A were set to hereditary spastic paraplegia 10, MONDO:0011408
Review for gene: KIF5A was set to GREEN
Added comment: Four papers report 12 affected individuals from 4 independent families with heterozygous KIF5A variants (missense and splice) presenting with hereditary spastic paraplegia and cerebellar ataxia; this phenotype includes prominent ataxia and aligns with the Ataxia panel’s scope of disorders where ataxia is a core feature.
Sources: Literature
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Marked gene: ANKRD1 as ready
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Gene: ankrd1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.349 ANKRD1 Zornitza Stark Phenotypes for gene: ANKRD1 were changed from Dilated Cardiomyopathy, Dominant to dilated cardiomyopathy MONDO:0005021; hypertrophic cardiomyopathy MONDO:0005045
Cardiomyopathy_Paediatric v1.348 ANKRD1 Zornitza Stark edited their review of gene: ANKRD1: Changed phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045
Cardiomyopathy_Paediatric v1.348 ANKRD1 Zornitza Stark Publications for gene: ANKRD1 were set to
Cardiomyopathy_Paediatric v1.347 ANKRD1 Zornitza Stark reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.347 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824
Cardiomyopathy_Paediatric v1.346 UQCC2 Zornitza Stark Classified gene: UQCC2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.346 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.345 UQCC2 Zornitza Stark reviewed gene: UQCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.345 SGSH Zornitza Stark Marked gene: SGSH as ready
Cardiomyopathy_Paediatric v1.345 SGSH Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Marked gene: PET100 as ready
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.345 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Cardiomyopathy_Paediatric v1.344 PET100 Zornitza Stark Classified gene: PET100 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.344 PET100 Zornitza Stark Gene: pet100 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.343 PET100 Zornitza Stark reviewed gene: PET100: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v2.535 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to 29429571
Mendeliome v2.534 NDUFB8 Zornitza Stark reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v2.9 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to 29429571
Mitochondrial disease v2.8 NDUFB8 Zornitza Stark reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.343 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from Mitochondrial complex I deficiency, nuclear type 32, 618252 to Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252
Cardiomyopathy_Paediatric v1.342 NDUFB8 Zornitza Stark changed review comment from: Cardiomyopathy reported in one of the two original families.; to: Cardiomyopathy reported in one of the two original families.

The gene-disease relationship has been rated as MODERATE by ClinGen, with only 3 families reported -- the third family in PMID 30770271 had predominantly neurological involvement.
Cardiomyopathy_Paediatric v1.342 NDUFB8 Zornitza Stark reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.91 KIF1A Bryony Thompson Marked gene: KIF1A as ready
Ataxia v2.91 KIF1A Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence).
Ataxia v2.91 KIF1A Bryony Thompson Classified gene: KIF1A as Green List (high evidence)
Ataxia v2.91 KIF1A Bryony Thompson Gene: kif1a has been classified as Green List (High Evidence).
Ataxia v2.90 KIF1A Bryony Thompson gene: KIF1A was added
gene: KIF1A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 38785164; 38681507; 36305856; 36233161; 35326432; 30778698; 27146152
Phenotypes for gene: KIF1A were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: KIF1A was set to GREEN
Added comment: KIF1A is associated with a dominant neurodevelopmental disorder characterised by early‑onset progressive ataxia, cerebellar atrophy, spasticity, hypotonia, seizures, optic nerve atrophy and cognitive impairment. Across 191 reported families (190 independent qualifying families) de novo heterozygous missense variants have been documented with ataxia. A single recessive case with biallelic KIF1A variants and a similar phenotype has also been described but does not meet the family‑count threshold for Green classification. The dominant KIF1A‑associated ataxia phenotype aligns with the Ataxia panel’s scope of disorders where ataxia is a prominent feature.
Sources: Literature
Ataxia v2.89 KIAA0586 Bryony Thompson Marked gene: KIAA0586 as ready
Ataxia v2.89 KIAA0586 Bryony Thompson Gene: kiaa0586 has been classified as Green List (High Evidence).
Ataxia v2.89 KIAA0586 Bryony Thompson Classified gene: KIAA0586 as Green List (high evidence)
Ataxia v2.89 KIAA0586 Bryony Thompson Gene: kiaa0586 has been classified as Green List (High Evidence).
Ataxia v2.88 KIAA0586 Bryony Thompson gene: KIAA0586 was added
gene: KIAA0586 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to 40448720; 39898050; 37131188; 36635699; 32381069; 30120217; 26386247; 26386044; 26026149
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23, MONDO:0014664
Review for gene: KIAA0586 was set to GREEN
Added comment: Across nine studies, 33 families (32 independent) with 37 affected individuals have been reported harbouring biallelic loss‑of‑function KIAA0586 variants. All families present the core Joubert syndrome phenotype – cerebellar vermis hypoplasia, molar‑tooth sign, ataxia, developmental delay and hypotonia – with variable additional features such as chronic airway disease, thoracic dysplasia, ocular‑motor apraxia, epilepsy or SUDEP. Autosomal recessive inheritance is consistently demonstrated (e.g., PMID 26026149 box 30, PMID 26386247 box 31). Functional assays show absent KIAA0586 protein or shortened cilia in patient fibroblasts, but no rescue experiments or orthogonal animal models (e.g., PMID 26026149 box 114; PMID 26386247 box 28). A recurrent frameshift allele (c.428delG) is common (gnomAD AF ≈ 0.003) and observed homozygously in healthy individuals, yet is interpreted as a hypomorphic variant that contributes to disease when paired with a second loss‑of‑function allele. No convincing contradictory evidence has been published. The phenotype’s hallmark ataxia makes KIAA0586 a clear fit for the Ataxia panel, which prioritises genes causing disorders where ataxia is a prominent feature.
Sources: Literature
Ataxia v2.87 KCTD7 Bryony Thompson Marked gene: KCTD7 as ready
Ataxia v2.87 KCTD7 Bryony Thompson Gene: kctd7 has been classified as Green List (High Evidence).
Ataxia v2.87 KCTD7 Bryony Thompson Classified gene: KCTD7 as Green List (high evidence)
Ataxia v2.87 KCTD7 Bryony Thompson Gene: kctd7 has been classified as Green List (High Evidence).
Ataxia v2.86 KCTD7 Bryony Thompson gene: KCTD7 was added
gene: KCTD7 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD7 were set to 38231304; 27742667
Phenotypes for gene: KCTD7 were set to progressive myoclonic epilepsy type 3, MONDO:0012721
Review for gene: KCTD7 was set to GREEN
Added comment: PMID 27742667 reports 2 individuals from 1 family with a homozygous frameshift KCTD7 variant presenting with early‑onset progressive myoclonic epilepsy, severe ataxia and neuroregression; functional assays show loss of K⁺ conductance and impaired glutamine transport. PMID 38231304 adds 42 individuals from 36 families (30 independent) with biallelic KCTD7 loss‑of‑function variants (including recurrent missense alleles) who exhibit drug‑resistant seizures, myoclonus, neuroregression and ataxia. The combined evidence of 31 independent families with ataxia. This association aligns with the Ataxia panel’s scope because ataxia is a core, frequently reported feature of KCTD7‑related progressive myoclonic epilepsy.
Sources: Literature
Ataxia v2.85 KCNMA1 Bryony Thompson Marked gene: KCNMA1 as ready
Ataxia v2.85 KCNMA1 Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence).
Ataxia v2.85 KCNMA1 Bryony Thompson Classified gene: KCNMA1 as Green List (high evidence)
Ataxia v2.85 KCNMA1 Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence).
Ataxia v2.84 KCNMA1 Bryony Thompson gene: KCNMA1 was added
gene: KCNMA1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNMA1 were set to 35730691; 35156297; 33178487; 32132200; 31152168
Phenotypes for gene: KCNMA1 were set to Liang-Wang syndrome, MONDO:0032886; Neurodevelopmental disorder, MONDO:0700092
Review for gene: KCNMA1 was set to GREEN
Added comment: Liang‑Wang syndrome (loss‑of‑function KCNMA1) is a monoallelic disorder characterised by developmental delay, cognitive impairment, progressive ataxia and movement abnormalities. Across four studies, 12 independent families with de novo LoF variants have been reported (PMID 32132200, PMID 31152168, PMID 35156297, PMID 33178487). A second, recessive loss‑of‑function neurodevelopmental disorder with ataxia has been described in a single compound‑heterozygous family (PMID 31152168); while supportive, it does not meet the family‑count threshold for a diagnostic‑grade rating.
Sources: Literature
Ataxia v2.83 KCNC1 Bryony Thompson Marked gene: KCNC1 as ready
Ataxia v2.83 KCNC1 Bryony Thompson Gene: kcnc1 has been classified as Green List (High Evidence).
Ataxia v2.83 KCNC1 Bryony Thompson Classified gene: KCNC1 as Green List (high evidence)
Ataxia v2.83 KCNC1 Bryony Thompson Gene: kcnc1 has been classified as Green List (High Evidence).
Ataxia v2.82 KCNC1 Bryony Thompson gene: KCNC1 was added
gene: KCNC1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNC1 were set to 42347804; 40765656; 37203213; 34733949; 32972906; 31353862; 28380698; 27629860
Phenotypes for gene: KCNC1 were set to complex neurodevelopmental disorder, MONDO:0100038; progressive myoclonic epilepsy type 7, MONDO:0014521
Review for gene: KCNC1 was set to GREEN
Added comment: Both progressive myoclonic epilepsy with ataxia (MEAK/EPM7) and milder epilepsy with ataxia phenotypes are associated with KCNC1 variants. PMID 28380698, PMID 27629860, PMID 40765656, PMID 32972906 and PMID 34733949 report 31 families (39 patients) with dominant‑negative loss‑of‑function KCNC1 variants causing progressive myoclonus epilepsy, seizures and cerebellar ataxia, fulfilling diagnostic criteria. PMID 31353862, PMID 42347804 and PMID 37203213 describe 6 families (6 patients) with de novo missense KCNC1 variants leading to epilepsy, mild developmental delay and non‑progressive ataxia, also meeting diagnostic criteria. Ataxia is a core feature of both disease spectrums, making KCNC1 a suitable gene for the Ataxia panel.
Sources: Literature
Ataxia v2.81 KATNIP Bryony Thompson Marked gene: KATNIP as ready
Ataxia v2.81 KATNIP Bryony Thompson Gene: katnip has been classified as Green List (High Evidence).
Ataxia v2.81 KATNIP Bryony Thompson Classified gene: KATNIP as Green List (high evidence)
Ataxia v2.81 KATNIP Bryony Thompson Gene: katnip has been classified as Green List (High Evidence).
Ataxia v2.80 KATNIP Bryony Thompson gene: KATNIP was added
gene: KATNIP was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KATNIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNIP were set to 40621737; 32164589; 32164589; 30982090; 30982090; 27245168; 27245168; 26714646; 26714646
Phenotypes for gene: KATNIP were set to Joubert syndrome, MONDO:0018772
Review for gene: KATNIP was set to GREEN
Added comment: Seven families (11 affected individuals) with Joubert syndrome, a neurodevelopmental ciliopathy featuring ataxia, hypotonia, developmental delay and cerebellar vermis hypoplasia, harbour homozygous loss‑of‑function KATNIP variants (c.2674C>T (p.Q892*), c.4420del, c.222_232del, c.3756dupC, R1253Qfs*, M1474Cfs*). Zebrafish morpholino knockdown rescued by wild‑type mRNA provides functional validation, and mouse knockout phenotypes support the loss‑of‑function mechanism. Recessive inheritance is well documented across independent families. Joubert syndrome includes prominent ataxia, making KATNIP relevant to the Ataxia panel.
Sources: Literature
Ataxia v2.79 KARS1 Bryony Thompson Marked gene: KARS1 as ready
Ataxia v2.79 KARS1 Bryony Thompson Gene: kars1 has been classified as Green List (High Evidence).
Ataxia v2.79 KARS1 Bryony Thompson Classified gene: KARS1 as Green List (high evidence)
Ataxia v2.79 KARS1 Bryony Thompson Gene: kars1 has been classified as Green List (High Evidence).
Ataxia v2.78 KARS1 Bryony Thompson gene: KARS1 was added
gene: KARS1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: KARS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS1 were set to 34172899; 31192300; 31192300
Phenotypes for gene: KARS1 were set to leukoencephalopathy, progressive, infantile-onset, with or without deafness, MONDO:0030893
Review for gene: KARS1 was set to GREEN
Added comment: PMID 34172899 reports 22 individuals from 16 families and PMID 31192300 reports 5 individuals from 4 families with biallelic KARS1 loss-of-function variants causing early-onset leukoencephalopathy with cerebellar ataxia. Segregation is confirmed in multiple pedigrees, and functional studies—including zebrafish knockout rescue and aminoacyl‑tRNA synthetase activity assays—support a loss‑of‑function mechanism. In total 27 patients from 20 independent families with ataxia.
Sources: Literature
Ataxia v2.77 JAM2 Bryony Thompson Marked gene: JAM2 as ready
Ataxia v2.77 JAM2 Bryony Thompson Gene: jam2 has been classified as Green List (High Evidence).
Ataxia v2.77 JAM2 Bryony Thompson Classified gene: JAM2 as Green List (high evidence)
Ataxia v2.77 JAM2 Bryony Thompson Gene: jam2 has been classified as Green List (High Evidence).
Ataxia v2.76 JAM2 Bryony Thompson gene: JAM2 was added
gene: JAM2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: JAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM2 were set to 32142645
Phenotypes for gene: JAM2 were set to basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938
Review for gene: JAM2 was set to GREEN
Added comment: PMID 32142645 reports 7 individuals from 4 families with biallelic loss-of-function JAM2 variants presenting with primary familial brain calcification and cerebellar ataxia. The cerebellar ataxia aligns JAM2 with the Ataxia panel, which captures disorders where ataxia is a prominent feature.
Sources: Literature
Ataxia v2.75 IQSEC2 Bryony Thompson Marked gene: IQSEC2 as ready
Ataxia v2.75 IQSEC2 Bryony Thompson Gene: iqsec2 has been classified as Green List (High Evidence).
Ataxia v2.75 IQSEC2 Bryony Thompson Classified gene: IQSEC2 as Green List (high evidence)
Ataxia v2.75 IQSEC2 Bryony Thompson Gene: iqsec2 has been classified as Green List (High Evidence).
Ataxia v2.74 IQSEC2 Bryony Thompson gene: IQSEC2 was added
gene: IQSEC2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: IQSEC2 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: IQSEC2 were set to 30666632
Phenotypes for gene: IQSEC2 were set to intellectual disability, X-linked 1, MONDO:0010656
Review for gene: IQSEC2 was set to GREEN
Added comment: PMID 30666632 reports 7/9 individuals with X‑linked IQSEC2 variants, including de novo loss‑of‑function frameshift and nonsense mutations, with features of gait ataxia.
Sources: Literature
Ataxia v2.73 INPP4A Bryony Thompson Marked gene: INPP4A as ready
Ataxia v2.73 INPP4A Bryony Thompson Gene: inpp4a has been classified as Green List (High Evidence).
Ataxia v2.73 INPP4A Bryony Thompson Classified gene: INPP4A as Green List (high evidence)
Ataxia v2.73 INPP4A Bryony Thompson Gene: inpp4a has been classified as Green List (High Evidence).
Ataxia v2.72 INPP4A Bryony Thompson gene: INPP4A was added
gene: INPP4A was added to Ataxia. Sources: Literature
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 39315527
Phenotypes for gene: INPP4A were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: INPP4A was set to GREEN
Added comment: PMID 39315527 reports 21 affected individuals from 12 families (9 independent) with biallelic loss‑of‑function INPP4A variants causing a neurodevelopmental disorder characterised by global developmental delay, severe intellectual disability, microcephaly, limb weakness, cerebellar signs and prominent ataxia. Multiple unrelated families (≥3) harbour qualifying LoF variants, and mouse knockout models recapitulate the phenotype.
Sources: Literature
Ataxia v2.71 HSPD1 Bryony Thompson Marked gene: HSPD1 as ready
Ataxia v2.71 HSPD1 Bryony Thompson Gene: hspd1 has been classified as Green List (High Evidence).
Ataxia v2.71 HSPD1 Bryony Thompson Classified gene: HSPD1 as Green List (high evidence)
Ataxia v2.71 HSPD1 Bryony Thompson Gene: hspd1 has been classified as Green List (High Evidence).
Ataxia v2.70 HSPD1 Bryony Thompson gene: HSPD1 was added
gene: HSPD1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPD1 were set to 39500555
Phenotypes for gene: HSPD1 were set to hypomyelinating leukodystrophy 4, MONDO:0012824
Review for gene: HSPD1 was set to GREEN
Added comment: PMID 39500555 reports 8 individuals with heterozygous de novo missense HSPD1 variants (p.Ala536Pro, p.Ala536Val) presenting with early‑onset hypomyelinating leukodystrophy characterised by nystagmus, tremor, hypotonia, spasticity, ataxia and neuroregression. The dominant‑negative mechanism impairs HSP60 oligomerisation. Ataxia is a core feature, aligning this gene with the Ataxia panel.
Sources: Literature
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Marked gene: NAGLU as ready
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.342 NAGLU Zornitza Stark Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB to Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Cardiomyopathy_Paediatric v1.341 NAGLU Zornitza Stark Publications for gene: NAGLU were set to 27604308
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Classified gene: NAGLU as Green List (high evidence)
Cardiomyopathy_Paediatric v1.340 NAGLU Zornitza Stark Gene: naglu has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.339 NAGLU Zornitza Stark reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: 37239976; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.69 HSD17B4 Bryony Thompson Marked gene: HSD17B4 as ready
Ataxia v2.69 HSD17B4 Bryony Thompson Gene: hsd17b4 has been classified as Green List (High Evidence).
Ataxia v2.69 HSD17B4 Bryony Thompson Classified gene: HSD17B4 as Green List (high evidence)
Ataxia v2.69 HSD17B4 Bryony Thompson Gene: hsd17b4 has been classified as Green List (High Evidence).
Ataxia v2.68 HSD17B4 Bryony Thompson gene: HSD17B4 was added
gene: HSD17B4 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 42231982; 41367148; 40102401; 39379670; 38249302; 32042923; 28830375; 27790638; 27528516
Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1, MONDO:0009300; d-bifunctional protein deficiency, MONDO:0009855
Review for gene: HSD17B4 was set to GREEN
Added comment: Both d‑bifunctional protein deficiency and Perrault syndrome caused by biallelic HSD17B4 variants present with cerebellar ataxia, making HSD17B4 relevant to the Ataxia panel. PMID 41367148, PMID 40102401, PMID 27790638, PMID 32042923 and PMID 42231982 together report 11 families (10 independent) with loss‑of‑function HSD17B4 variants causing d‑bifunctional protein deficiency, featuring early‑ to adult‑onset cerebellar ataxia, hearing loss and sometimes seizures or hypergonadotropic hypogonadism. Functional studies in patient fibroblasts, mouse knock‑out models and cilia‑rescue experiments support pathogenicity. Additionally, three families (PMID 27528516, PMID 38249302, PMID 28830375) report Perrault syndrome with ataxia, hearing loss and ovarian dysgenesis (or male infertility).
Sources: Literature
Ataxia v2.67 GRN Bryony Thompson Marked gene: GRN as ready
Ataxia v2.67 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Ataxia v2.67 GRN Bryony Thompson Classified gene: GRN as Green List (high evidence)
Ataxia v2.67 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Ataxia v2.66 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRN were set to 39812704; 39394881; 31855245
Phenotypes for gene: GRN were set to neuronal ceroid lipofuscinosis 11, MONDO:0013866
Review for gene: GRN was set to GREEN
Added comment: PMID 39812704 reports 1 individual from 1 family with a homozygous frameshift GRN variant presenting with cerebellar ataxia, cone‑rod dystrophy, seizures and cognitive decline. PMID 39394881 describes 9 individuals from 9 unrelated families, all with biallelic loss‑of‑function GRN variants and a core cerebellar ataxia phenotype; seven families share the recurrent frameshift c.768_769dup. PMID 31855245 adds 3 individuals from 2 families carrying distinct homozygous loss‑of‑function GRN variants (c.1A>T and c.709‑3C>G) with early‑onset ataxia, seizures and retinitis pigmentosa. In total these studies comprise 13 patients from 12 families, representing five independent biallelic loss‑of‑function GRN variant origins that cause neuronal ceroid lipofuscinosis 11 (CLN11) with cerebellar ataxia.
Sources: Literature
Ataxia v2.65 GLS Bryony Thompson Marked gene: GLS as ready
Ataxia v2.65 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Ataxia v2.65 GLS Bryony Thompson Classified gene: GLS as Green List (high evidence)
Ataxia v2.65 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Ataxia v2.64 GLS Bryony Thompson gene: GLS was added
gene: GLS was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLS were set to 38877099; 38260514; 35913761; 30970188
Phenotypes for gene: GLS were set to glutaminase deficiency, MONDO:0600001
Review for gene: GLS was set to GREEN
Added comment: PMID 30970188 reports three families and PMID 35913761 reports two families (total five families, six patients) with biallelic GLS loss‑of‑function variants (5'UTR repeat expansions, frameshift, nonsense or missense coding changes) causing early‑onset developmental delay, progressive cerebellar ataxia and markedly elevated plasma glutamine. Functional studies show ~4‑fold reduced GLS mRNA in patient iPSCs, markedly decreased enzyme activity in patient fibroblasts, and zebrafish glsa knockdown recapitulating neurodevelopmental defects, though rescue experiments are lacking. These findings align with the Ataxia panel because progressive ataxia is a core feature of the panel’s scope of neurological disorders with ataxia.
Sources: Literature
Ataxia v2.63 Bryony Thompson Copied STR GLS_GDPAG_GCA from panel Repeat Disorders
Ataxia v2.63 GLS_GDPAG_GCA Bryony Thompson STR: GLS_GDPAG_GCA was added
STR: GLS_GDPAG_GCA was added to Ataxia. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: GLS_GDPAG_GCA.
Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS_GDPAG_GCA were set to 30970188
Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Ataxia v2.62 GBA1 Bryony Thompson Marked gene: GBA1 as ready
Ataxia v2.62 GBA1 Bryony Thompson Gene: gba1 has been classified as Green List (High Evidence).
Ataxia v2.62 GBA1 Bryony Thompson Classified gene: GBA1 as Green List (high evidence)
Ataxia v2.62 GBA1 Bryony Thompson Gene: gba1 has been classified as Green List (High Evidence).
Ataxia v2.61 GBA1 Bryony Thompson gene: GBA1 was added
gene: GBA1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA1 were set to 28736718; 28736718; 28003644; 28003644
Phenotypes for gene: GBA1 were set to Gaucher disease type III, MONDO:0009267
Review for gene: GBA1 was set to GREEN
Added comment: PMID 28736718 reports four individuals from four families with biallelic GBA1 missense variants (p.L444P or p.D409H) presenting with neuronopathic Gaucher disease type III, characterised by cerebellar ataxia, ophthalmoplegia and seizures. PMID 28003644 describes five individuals from four families homozygous for p.L444P with the same phenotype, confirming segregation in consanguineous families and excluding a shared founder haplotype. Combined, nine patients from eight independent families carry qualifying GBA1 variants, establishing GBA1‑related type III Gaucher disease as an autosomal recessive loss‑of‑function disorder with high penetrance. Cerebellar ataxia is a prominent feature, making GBA1 a relevant gene for the Ataxia panel, which curates genes causing ataxia phenotypes.
Sources: Literature
Ataxia v2.60 GAN Bryony Thompson Marked gene: GAN as ready
Ataxia v2.60 GAN Bryony Thompson Gene: gan has been classified as Green List (High Evidence).
Ataxia v2.60 GAN Bryony Thompson Classified gene: GAN as Green List (high evidence)
Ataxia v2.60 GAN Bryony Thompson Gene: gan has been classified as Green List (High Evidence).
Ataxia v2.59 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 39602023; 38011432; 36866531; 34114613; 32999401; 31655922; 30532362; 30246730
Phenotypes for gene: GAN were set to giant axonal neuropathy 1, MONDO:0009749
Review for gene: GAN was set to GREEN
Added comment: Across eight studies, GAN is associated with 66 patients from nine independent families harbouring biallelic loss‑of‑function variants, presenting with childhood‑onset gait ataxia, peripheral neuropathy, curly/kinky hair, cerebellar ataxia and multisystem neuro‑degeneration.
Sources: Literature
Ataxia v2.58 GALC Bryony Thompson Marked gene: GALC as ready
Ataxia v2.58 GALC Bryony Thompson Gene: galc has been classified as Green List (High Evidence).
Ataxia v2.58 GALC Bryony Thompson Classified gene: GALC as Green List (high evidence)
Ataxia v2.58 GALC Bryony Thompson Gene: galc has been classified as Green List (High Evidence).
Ataxia v2.57 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 36341094; 35002157; 32484059; 26915362
Phenotypes for gene: GALC were set to Krabbe disease, MONDO:0009499
Review for gene: GALC was set to GREEN
Added comment: PMID 26915362 reports five affected individuals from a French‑Canadian family with adult‑onset Krabbe disease and predominant cerebellar ataxia; PMID 32484059 describes a single juvenile‑onset case presenting with ataxia, motor regression and rapid disease progression; PMID 35002157 presents two unrelated Indian families with infantile and juvenile Krabbe disease, both showing ataxia, spastic quadriparesis and optic atrophy; PMID 36341094 reports an adult case with gait ataxia, progressive myoclonic epilepsy and an asymmetric occipital lesion. All cases are caused by biallelic loss‑of‑function GALC variants, establishing recessive Krabbe disease as a monogenic disorder with cerebellar ataxia.
Sources: Literature
Ataxia v2.56 GABRB2 Bryony Thompson Marked gene: GABRB2 as ready
Ataxia v2.56 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Ataxia v2.56 GABRB2 Bryony Thompson Classified gene: GABRB2 as Green List (high evidence)
Ataxia v2.56 GABRB2 Bryony Thompson Gene: gabrb2 has been classified as Green List (High Evidence).
Ataxia v2.55 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB2 were set to 33325057; 29100083
Phenotypes for gene: GABRB2 were set to complex neurodevelopmental disorder, MONDO:0100038
Review for gene: GABRB2 was set to GREEN
Added comment: PMID 33325057 reports 25 individuals from 22 families with heterozygous de novo missense GABRB2 variants presenting with a neurodevelopmental disorder that includes epilepsy, developmental delay and ataxia. Ataxia is observed in three individuals from three independent families. An additional case with ataxia is reported in PMID 29100083. Ataxia is present in >10% of cases, aligning with the Ataxia panel’s focus on disorders where ataxia is a prominent feature.
Sources: Literature
Ataxia v2.54 FAM149B1 Bryony Thompson Marked gene: FAM149B1 as ready
Ataxia v2.54 FAM149B1 Bryony Thompson Gene: fam149b1 has been classified as Green List (High Evidence).
Ataxia v2.54 FAM149B1 Bryony Thompson Classified gene: FAM149B1 as Green List (high evidence)
Ataxia v2.54 FAM149B1 Bryony Thompson Gene: fam149b1 has been classified as Green List (High Evidence).
Ataxia v2.53 FAM149B1 Bryony Thompson gene: FAM149B1 was added
gene: FAM149B1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 34828254; 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, MONDO:0032902
Review for gene: FAM149B1 was set to GREEN
Added comment: PMID 30905400 and PMID 34828254 report a total of eight individuals from five families with biallelic loss‑of‑function FAM149B1 variants causing Joubert syndrome 36, a ciliopathy characterised by cerebellar ataxia, oculomotor apraxia, the molar‑tooth sign and, in some cases, oral‑facial‑digital anomalies.
Sources: Literature
Ataxia v2.52 ERCC6 Bryony Thompson Marked gene: ERCC6 as ready
Ataxia v2.52 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence).
Ataxia v2.52 ERCC6 Bryony Thompson Classified gene: ERCC6 as Green List (high evidence)
Ataxia v2.52 ERCC6 Bryony Thompson Gene: ercc6 has been classified as Green List (High Evidence).
Ataxia v2.51 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6 were set to 38674442; 37532514
Phenotypes for gene: ERCC6 were set to Cockayne syndrome type 2, MONDO:0019570
Review for gene: ERCC6 was set to GREEN
Added comment: PMID 37532514 reports 2 individuals from 1 family with biallelic ERRC6 missense variants causing adult‑onset cerebellar ataxia within Cockayne syndrome type B; PMID 38674442 reports 8 individuals from 8 families with biallelic loss‑of‑function ERCC6 variants causing Cockayne syndrome types I‑III with progressive ataxia, spasticity and microcephaly. Combined evidence (9 families reported, 5 independent qualifying families) supports ERCC6 as a diagnostic‑grade gene for the Ataxia panel given the autosomal recessive, highly penetrant loss‑of‑function mechanism and lack of contradictory data.
Sources: Literature
Ataxia v2.50 DNM1L Bryony Thompson Marked gene: DNM1L as ready
Ataxia v2.50 DNM1L Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence).
Ataxia v2.50 DNM1L Bryony Thompson Classified gene: DNM1L as Green List (high evidence)
Ataxia v2.50 DNM1L Bryony Thompson Gene: dnm1l has been classified as Green List (High Evidence).
Ataxia v2.49 DNM1L Bryony Thompson gene: DNM1L was added
gene: DNM1L was added to Ataxia. Sources: Literature
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNM1L were set to 41244260; 38481935; 36212643; 33718295; 31868880
Phenotypes for gene: DNM1L were set to encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865
Review for gene: DNM1L was set to GREEN
Added comment: Four papers (PMID 38481935, PMID 31868880, PMID 36212643, PMID 33718295) each report a single family with a heterozygous DNM1L missense variant and ataxia; PMID 41244260 aggregates 14 additional families with ataxia among a cohort of 66 DNM1L families, including six de novo missense variants and the recurrent p.Arg403Cys hotspot. In total 18 families (17 independent families with qualifying de novo or recurrent variants) demonstrate an autosomal dominant, dominant‑negative loss‑of‑function mechanism. Cellular assays show mitochondrial hyperfusion and loss of DRP1 protein, and mouse knockout and Drosophila models confirm impaired mitochondrial fission, although rescue experiments are lacking. This gene is relevant to the Ataxia panel because DNM1L‑related disease presents with progressive ataxia as a core feature within the neurology and neurodevelopmental disorder group.
Sources: Literature
Ataxia v2.48 COASY Bryony Thompson Marked gene: COASY as ready
Ataxia v2.48 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Ataxia v2.48 COASY Bryony Thompson Classified gene: COASY as Green List (high evidence)
Ataxia v2.48 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Ataxia v2.47 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Ataxia. Sources: Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 38750253; 36877387; 28489334
Phenotypes for gene: COASY were set to neurodegeneration with brain iron accumulation 6, MONDO:0014290
Review for gene: COASY was set to GREEN
Added comment: PMID 38750253 reports 5 individuals from 4 families (3 independent qualifying families) with biallelic COASY loss‑of‑function variants; PMID 28489334 reports 2 siblings from 1 family with compound heterozygous missense variants; PMID 36877387 reports 1 individual from 1 family with a compound heterozygous nonsense‑missense genotype. All cases present with early‑onset neurodegeneration often including ataxia, epilepsy, developmental delay and cerebellar atrophy or brain iron accumulation. COASY‑associated neurodegeneration frequently manifests with childhood‑onset ataxia and cerebellar involvement, making it directly relevant to the Ataxia panel which targets disorders where ataxia is a core feature.
Sources: Literature
Ataxia v2.46 CLN8 Bryony Thompson Marked gene: CLN8 as ready
Ataxia v2.46 CLN8 Bryony Thompson Gene: cln8 has been classified as Green List (High Evidence).
Ataxia v2.46 CLN8 Bryony Thompson Classified gene: CLN8 as Green List (high evidence)
Ataxia v2.46 CLN8 Bryony Thompson Gene: cln8 has been classified as Green List (High Evidence).
Ataxia v2.45 CLN8 Bryony Thompson gene: CLN8 was added
gene: CLN8 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN8 were set to 36011304; 31982899; 30741402
Phenotypes for gene: CLN8 were set to neuronal ceroid lipofuscinosis 8, MONDO:0010830
Review for gene: CLN8 was set to GREEN
Added comment: PMID 31982899, PMID 30741402 and PMID 36011304 report a total of 6 patients from 4 unrelated families with biallelic CLN8 variants causing neuronal ceroid lipofuscinosis 8, a neurodegenerative disorder characterised by seizures, progressive ataxia, visual loss and neuroregression; the presence of progressive ataxia makes this association relevant to the Ataxia panel.
Sources: Literature
Ataxia v2.44 CEP120 Bryony Thompson Marked gene: CEP120 as ready
Ataxia v2.44 CEP120 Bryony Thompson Gene: cep120 has been classified as Green List (High Evidence).
Ataxia v2.44 CEP120 Bryony Thompson Classified gene: CEP120 as Green List (high evidence)
Ataxia v2.44 CEP120 Bryony Thompson Gene: cep120 has been classified as Green List (High Evidence).
Ataxia v2.43 CEP120 Bryony Thompson gene: CEP120 was added
gene: CEP120 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP120 were set to 38050708; 27208211
Phenotypes for gene: CEP120 were set to Joubert syndrome 31, MONDO:0033310
Review for gene: CEP120 was set to GREEN
Added comment: PMID 38050708 and PMID 27208211 together report seven individuals from five families with biallelic CEP120 variants causing Joubert syndrome 31, characterised by cerebellar vermis hypoplasia, molar tooth sign, ataxic gait and abnormal breathing; ataxia is a core feature aligning this gene with the Ataxia panel.
Sources: Literature
Ataxia v2.42 CEP104 Bryony Thompson Marked gene: CEP104 as ready
Ataxia v2.42 CEP104 Bryony Thompson Gene: cep104 has been classified as Green List (High Evidence).
Ataxia v2.42 CEP104 Bryony Thompson Classified gene: CEP104 as Green List (high evidence)
Ataxia v2.42 CEP104 Bryony Thompson Gene: cep104 has been classified as Green List (High Evidence).
Ataxia v2.41 CEP104 Bryony Thompson gene: CEP104 was added
gene: CEP104 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 41965849; 35359234; 31625690; 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MONDO:0014770; ciliopathy, MONDO:0005308
Review for gene: CEP104 was set to GREEN
Added comment: CEP104 encodes a centrosomal tip protein involved in ciliary assembly. Biallelic loss‑of‑function variants in CEP104 are linked to two distinct phenotypes that feature ataxia, fitting the Ataxia panel’s scope.

Luo2019, PMID 26477546 and PMID 41965849 together report five unrelated families (five probands) with Joubert syndrome, a ciliopathy characterised by cerebellar vermis hypoplasia, molar tooth sign, developmental delay, hypotonia and ataxia, caused by compound heterozygous or homozygous loss‑of‑function CEP104 variants.

Badv2022 describes a consanguineous family with a homozygous nonsense CEP104 variant in a child presenting with mild intellectual disability, hypotonia and gait ataxia but normal brain MRI, representing a distinct neurodevelopmental disorder.
Sources: Literature
Ataxia v2.40 CACNA1C Bryony Thompson Marked gene: CACNA1C as ready
Ataxia v2.40 CACNA1C Bryony Thompson Gene: cacna1c has been classified as Green List (High Evidence).
Ataxia v2.40 CACNA1C Bryony Thompson Classified gene: CACNA1C as Green List (high evidence)
Ataxia v2.40 CACNA1C Bryony Thompson Gene: cacna1c has been classified as Green List (High Evidence).
Ataxia v2.39 CACNA1C Bryony Thompson gene: CACNA1C was added
gene: CACNA1C was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 34163037; 31291898
Phenotypes for gene: CACNA1C were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: CACNA1C was set to GREEN
Added comment: CACNA1C encodes the α1C subunit of the L-type voltage‑dependent calcium channel (Cav1.2). PMID 34163037 reports 22 families with heterozygous CACNA1C variants causing a neurodevelopmental disorder that includes ataxia, developmental delay/intellectual disability, autism, epilepsy and hypotonia. PMID 31291898 describes a single family with an intronic CACNA1C variant co‑segregating with autosomal dominant cerebellar ataxia.
Sources: Literature
Ataxia v2.38 B4GALNT1 Bryony Thompson Marked gene: B4GALNT1 as ready
Ataxia v2.38 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Ataxia v2.38 B4GALNT1 Bryony Thompson Classified gene: B4GALNT1 as Green List (high evidence)
Ataxia v2.38 B4GALNT1 Bryony Thompson Gene: b4galnt1 has been classified as Green List (High Evidence).
Ataxia v2.37 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to 40171946; 39145292; 37510308; 35775650
Phenotypes for gene: B4GALNT1 were set to hereditary spastic paraplegia 26, MONDO:0012213
Review for gene: B4GALNT1 was set to GREEN
Added comment: PMID 35775650 reports 1 individual from 1 family, PMID 40171946 reports 2 individuals from 1 family, PMID 39145292 reports 1 individual from 1 family, and PMID 37510308 reports 5 individuals from 1 family, all carrying biallelic loss‑of‑function variants in B4GALNT1. Affected individuals present with early‑onset hereditary spastic paraplegia, progressive spastic gait, cerebellar ataxia, dystonia, optic atrophy, hearing loss and intellectual disability.
Sources: Literature
Ataxia v2.36 ARV1 Bryony Thompson Marked gene: ARV1 as ready
Ataxia v2.36 ARV1 Bryony Thompson Gene: arv1 has been classified as Green List (High Evidence).
Ataxia v2.36 ARV1 Bryony Thompson Classified gene: ARV1 as Green List (high evidence)
Ataxia v2.36 ARV1 Bryony Thompson Gene: arv1 has been classified as Green List (High Evidence).
Ataxia v2.35 ARV1 Bryony Thompson gene: ARV1 was added
gene: ARV1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to 37749428; 32165008
Phenotypes for gene: ARV1 were set to developmental and epileptic encephalopathy, 38, MONDO:0014868
Review for gene: ARV1 was set to GREEN
Added comment: PMID 37749428 reports 1 family and 5 other families identified by a literature review, and PMID 32165008 reports 2 families (3 families total) with autosomal recessive ARV1 loss-of-function variants causing early infantile epileptic encephalopathy 38, characterised by seizures, developmental delay, progressive cerebellar ataxia (often with elevated α‑fetoprotein)
Sources: Literature
Ataxia v2.34 ANK3 Bryony Thompson Marked gene: ANK3 as ready
Ataxia v2.34 ANK3 Bryony Thompson Gene: ank3 has been classified as Green List (High Evidence).
Ataxia v2.34 ANK3 Bryony Thompson Classified gene: ANK3 as Green List (high evidence)
Ataxia v2.34 ANK3 Bryony Thompson Gene: ank3 has been classified as Green List (High Evidence).
Ataxia v2.33 ANK3 Bryony Thompson gene: ANK3 was added
gene: ANK3 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ANK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANK3 were set to 40879451; 36777705
Phenotypes for gene: ANK3 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: ANK3 was set to GREEN
Added comment: ANK3 encodes ankyrin‑G, a neuronal scaffold protein, and pathogenic variants have been linked to neurodevelopmental disorders featuring cerebellar ataxia.

Maroofian2025 reports five individuals from three unrelated consanguineous families with biallelic loss‑of‑function ANK3 variants (splice and frameshift) presenting with childhood‑onset cerebellar ataxia, developmental delay, intellectual disability, hypotonia and variable epilepsy. The disorder follows autosomal recessive inheritance, shows high penetrance, and mouse knockout recapitulates the ataxic phenotype, supporting loss‑of‑function as the mechanism.

Younus2023 describes a single Pakistani consanguineous family with a homozygous missense ANK3 p.Tyr60His variant; the proband has intellectual disability, ataxia, seizures, speech impairment and aggressive behaviour.
Sources: Literature
Ataxia v2.32 AIFM1 Bryony Thompson Marked gene: AIFM1 as ready
Ataxia v2.32 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence).
Ataxia v2.32 AIFM1 Bryony Thompson Classified gene: AIFM1 as Green List (high evidence)
Ataxia v2.32 AIFM1 Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence).
Ataxia v2.31 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 39601015; 37603145; 32337346; 31523922; 31188924; 28842795; 25934856
Phenotypes for gene: AIFM1 were set to Charcot-Marie-Tooth disease X-linked recessive 4, MONDO:0010689; X-linked hereditary sensory and autonomic neuropathy with hearing loss, MONDO:0010378; severe X-linked mitochondrial encephalomyopathy, MONDO:0010437; spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275
Review for gene: AIFM1 was set to GREEN
Added comment: AIFM1 encodes a mitochondrial flavoprotein required for NADH oxidation and caspase‑independent apoptosis. Pathogenic variants cause a spectrum of X‑linked neuro‑developmental and mitochondrial disorders that frequently feature cerebellar ataxia.

**X‑linked hypomyelination with spondylometaphyseal dysplasia (H‑SMD)** – six unrelated families (12 patients) with loss‑of‑function AIFM1 variants present with hypomyelination, spondylometaphyseal dysplasia, ataxia and additional neurologic signs (PMID 28842795).

**Severe X‑linked mitochondrial encephalomyopathy** – two families (two patients) with loss‑of‑function missense variants display cerebellar ataxia, peripheral neuropathy, hearing loss, optic atrophy and muscle weakness (PMID 37603145; PMID 25934856).

**X‑linked hereditary sensory and autonomic neuropathy with hearing loss** – three independent families (12 patients) harbor distinct missense AIFM1 variants and share cerebellar ataxia, peripheral neuropathy, sensorineural hearing loss and colour‑vision deficiency (PMID 31523922; PMID 32337346; PMID 39601015).

** Charcot-Marie-Tooth disease X‑linked recessive 4** – one family (four patients) with a gain‑of‑function missense variant shows hearing loss, peripheral neuropathy, distal muscle wasting and ataxic gait (PMID 31188924).
Sources: Literature
Ataxia v2.30 AARS2 Bryony Thompson Marked gene: AARS2 as ready
Ataxia v2.30 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Ataxia v2.30 AARS2 Bryony Thompson Classified gene: AARS2 as Green List (high evidence)
Ataxia v2.30 AARS2 Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence).
Ataxia v2.29 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS2 were set to 39853526; 38507676; 35084689; 31705293; 31347571; 31099476; 30706699; 29666464; 28322004
Phenotypes for gene: AARS2 were set to Mitochondrial disease, MONDO:0044970; ovarioleukodystrophy, MONDO:0020506
Review for gene: AARS2 was set to GREEN
Added comment: PMID 31099476, PMID 30706699, PMID 29666464, PMID 35084689 and PMID 31347571 together report seven families (five independent qualifying families) with biallelic loss‑of‑function AARS2 variants causing adult‑onset leukoencephalopathy, cerebellar atrophy and progressive ataxia. PMID 31705293 describes a single family with recessive cerebellar ataxia without leukoencephalopathy. PMID 39853526, PMID 28322004 and PMID 38507676 report eight families (two independent qualifying families) with ovarioleukodystrophy (leukoencephalopathy + ovarian failure).
Sources: Literature
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.339 MT-TI Zornitza Stark Phenotypes for gene: MT-TI were changed from to Mitochondrial disease (MONDO:0044970), MT-TI-related
Cardiomyopathy_Paediatric v1.338 MT-TI Zornitza Stark Publications for gene: MT-TI were set to
Cardiomyopathy_Paediatric v1.337 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Cardiomyopathy_Paediatric v1.337 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.336 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Cardiomyopathy_Paediatric v1.336 MT-TI Zornitza Stark reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), MT-TI-related; Mode of inheritance: MITOCHONDRIAL
Cardiomyopathy_Paediatric v1.336 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Cardiomyopathy_Paediatric v1.336 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.336 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930
Cardiomyopathy_Paediatric v1.335 HGSNAT Zornitza Stark edited their review of gene: HGSNAT: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.335 HGSNAT Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Marked gene: HFE as ready
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Gene: hfe has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.335 HFE Zornitza Stark Phenotypes for gene: HFE were changed from Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy to Haemochromatosis, type 1, MIM# 235200
Cardiomyopathy_Paediatric v1.334 HFE Zornitza Stark Publications for gene: HFE were set to 27604308
Cardiomyopathy_Paediatric v1.333 HFE Zornitza Stark edited their review of gene: HFE: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.333 HFE Zornitza Stark reviewed gene: HFE: Rating: ; Mode of pathogenicity: None; Publications: 36724119; Phenotypes: Haemochromatosis, type 1, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Marked gene: VCL as ready
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.333 VCL Zornitza Stark Phenotypes for gene: VCL were changed from Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W to Cardiomyopathy, dilated, 1W, MIM# 611407
Cardiomyopathy_Paediatric v1.332 VCL Zornitza Stark Publications for gene: VCL were set to
Cardiomyopathy_Paediatric v1.331 VCL Zornitza Stark edited their review of gene: VCL: Added comment: STRONG by ClinGen for DCM. Predominantly paediatric onset.; Changed rating: GREEN; Changed publications: 17097056, 32516855; Changed phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.331 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from Mitochondrial complex I deficiency, nuclear type 19, 618241 to Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241
Cardiomyopathy_Paediatric v1.330 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark changed review comment from: HCM reported.; to: HCM reported but not a common/consistent feature.
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark edited their review of gene: FOXRED1: Changed rating: AMBER
Cardiomyopathy_Paediatric v1.329 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20858599; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.329 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 to Cardiomyopathy, dilated, 1II, MIM# 615184
Cardiomyopathy_Paediatric v1.328 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Cardiomyopathy_Paediatric v1.327 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.326 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Cardiomyopathy_Paediatric v1.326 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.325 CRYAB Zornitza Stark reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16483541, 16793013]; Phenotypes: Cardiomyopathy, dilated, 1II, MIM# 615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark edited their review of gene: COX7B: Changed rating: RED
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Marked gene: COX7B as ready
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Gene: cox7b has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Classified gene: COX7B as Red List (low evidence)
Cardiomyopathy_Paediatric v1.325 COX7B Zornitza Stark Gene: cox7b has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.324 COX7B Zornitza Stark Publications for gene: COX7B were set to
Cardiomyopathy_Paediatric v1.323 COX7B Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM# 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cardiomyopathy_Paediatric v1.322 TTR Zornitza Stark Marked gene: TTR as ready
Cardiomyopathy_Paediatric v1.322 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.322 TTR Zornitza Stark Phenotypes for gene: TTR were changed from syndromic HCM to Amyloidosis, hereditary systemic 1, MIM# 105210
Cardiomyopathy_Paediatric v1.321 TTR Zornitza Stark Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737
Cardiomyopathy_Paediatric v1.320 TTR Zornitza Stark reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary systemic 1, MIM# 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Marked gene: TTN as ready
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.320 TTN Zornitza Stark Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739
Cardiomyopathy_Paediatric v1.319 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dilated cardiomyopathy 1G MONDO:0011400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.319 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Cardiomyopathy_Paediatric v1.319 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Cardiomyopathy_Paediatric v1.319 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.319 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3 to Cardiomyopathy, dilated, 1Y, MIM# 611878
Cardiomyopathy_Paediatric v1.318 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Cardiomyopathy_Paediatric v1.317 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.317 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6, to Cardiomyopathy, dilated, 1D MIM#601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195
Cardiomyopathy_Paediatric v1.316 TNNT2 Zornitza Stark Publications for gene: TNNT2 were set to
Cardiomyopathy_Paediatric v1.315 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11106718; Phenotypes: Cardiomyopathy, dilated, 1D MIM#601494, Cardiomyopathy, hypertrophic, 2, MIM# 115195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.315 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z to Cardiomyopathy, dilated, 1Z, MIM# 611879; Cardiomyopathy, hypertrophic, 13, MIM# 613243
Cardiomyopathy_Paediatric v1.314 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Cardiomyopathy_Paediatric v1.313 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879, Cardiomyopathy, hypertrophic, 13, MIM# 613243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.313 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 to mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546
Cardiomyopathy_Paediatric v1.312 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.311 TMEM43 Zornitza Stark Phenotypes for gene: TMEM43 were changed from Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302 to Arrhythmogenic right ventricular dysplasia 5, MIM#604400
Cardiomyopathy_Paediatric v1.310 TMEM43 Zornitza Stark Publications for gene: TMEM43 were set to
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.309 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from Mitochondrial complex I deficiency, nuclear type 29, 618250 to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Cardiomyopathy_Paediatric v1.308 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.308 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Cardiomyopathy_Paediatric v1.308 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Marked gene: TAFAZZIN as ready
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Gene: tafazzin has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.308 TAFAZZIN Zornitza Stark Phenotypes for gene: TAFAZZIN were changed from Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome to Barth syndrome, MIM# 302060
Cardiomyopathy_Paediatric v1.307 TAFAZZIN Zornitza Stark Publications for gene: TAFAZZIN were set to 27604308
Cardiomyopathy_Paediatric v1.306 TAFAZZIN Zornitza Stark reviewed gene: TAFAZZIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20812380; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Gene: surf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.306 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Cardiomyopathy_Paediatric v1.305 SURF1 Zornitza Stark Classified gene: SURF1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.305 SURF1 Zornitza Stark Gene: surf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.304 SURF1 Zornitza Stark reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Gene: sos2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.304 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 616559; Noonan syndrome 9 to Noonan syndrome 9, MIM# 616559
Cardiomyopathy_Paediatric v1.303 SOS2 Zornitza Stark Classified gene: SOS2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.303 SOS2 Zornitza Stark Gene: sos2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.302 SOS2 Zornitza Stark reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Marked gene: SGCD as ready
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.302 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated, 1L, 606685 to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Cardiomyopathy_Paediatric v1.301 SGCD Zornitza Stark Publications for gene: SGCD were set to 10735275; 18779423; 23900355
Cardiomyopathy_Paediatric v1.300 SGCD Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34515763; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.300 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial respiratory chain complex II deficiency, 252011 to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Cardiomyopathy_Paediatric v1.299 SDHAF1 Zornitza Stark Classified gene: SDHAF1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.299 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.298 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Marked gene: SDHA as ready
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.298 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642 to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642
Cardiomyopathy_Paediatric v1.297 SDHA Zornitza Stark Publications for gene: SDHA were set to 27604308
Cardiomyopathy_Paediatric v1.296 SDHA Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20551992; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011, Cardiomyopathy, dilated, 1GG, MIM# 613642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Marked gene: RYR2 as ready
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.296 RYR2 Zornitza Stark Phenotypes for gene: RYR2 were changed from Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996 to dilated cardiomyopathy MONDO:0005021; hypertrophic cardiomyopathy MONDO:0005045; arrhythmogenic right ventricular cardiomyopathy MONDO:0016587
Cardiomyopathy_Paediatric v1.295 RYR2 Zornitza Stark Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Cardiomyopathy_Paediatric v1.294 RYR2 Zornitza Stark Classified gene: RYR2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.294 RYR2 Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.293 RYR2 Zornitza Stark edited their review of gene: RYR2: Added comment: LIMITED by ClinGen for association with DCM and HCM. REFUTED for ARVC.; Changed rating: RED; Changed phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.293 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome to Noonan syndrome 1, MIM# 163950
Cardiomyopathy_Paediatric v1.292 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cardiomyopathy_Paediatric v1.291 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Marked gene: PLN as ready
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.291 PLN Zornitza Stark Phenotypes for gene: PLN were changed from Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P to Cardiomyopathy, dilated, 1P, MIM# 609909; Cardiomyopathy, hypertrophic, 18, MIM# 613874
Cardiomyopathy_Paediatric v1.290 PLN Zornitza Stark Publications for gene: PLN were set to
Cardiomyopathy_Paediatric v1.289 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909, Cardiomyopathy, hypertrophic, 18, MIM# 613874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Gene: nubpl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.289 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, nuclear type 21, 618242 to Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242
Cardiomyopathy_Paediatric v1.288 NUBPL Zornitza Stark Classified gene: NUBPL as Red List (low evidence)
Cardiomyopathy_Paediatric v1.288 NUBPL Zornitza Stark Gene: nubpl has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.287 NUBPL Zornitza Stark reviewed gene: NUBPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Marked gene: NRAS as ready
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.287 NRAS Zornitza Stark Phenotypes for gene: NRAS were changed from Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome to Noonan syndrome 6, MIM# 613224
Cardiomyopathy_Paediatric v1.286 NRAS Zornitza Stark edited their review of gene: NRAS: Changed publications: 19966803
Cardiomyopathy_Paediatric v1.286 NRAS Zornitza Stark reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 6, MIM# 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.286 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from Mitochondrial complex I deficiency, nuclear type 3, 618224 to Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224
Cardiomyopathy_Paediatric v1.285 NDUFS7 Zornitza Stark Classified gene: NDUFS7 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.285 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.284 NDUFS7 Zornitza Stark reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.284 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, nuclear type 9, 618232 to Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232
Cardiomyopathy_Paediatric v1.283 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.283 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.282 NDUFS6 Zornitza Stark reviewed gene: NDUFS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.282 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from Mitochondrial complex I deficiency, nuclear type 8, 618230 to Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230
Cardiomyopathy_Paediatric v1.281 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.281 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.280 NDUFS3 Zornitza Stark reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.280 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226
Cardiomyopathy_Paediatric v1.279 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.279 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.278 NDUFS1 Zornitza Stark reviewed gene: NDUFS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.278 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from Mitochondrial complex I deficiency, nuclear type 25, 618246 to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246
Cardiomyopathy_Paediatric v1.277 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.277 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.276 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.276 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex I deficiency, nuclear type 16, 616238 to Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238
Cardiomyopathy_Paediatric v1.275 NDUFAF5 Zornitza Stark Classified gene: NDUFAF5 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.275 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.274 NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.274 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from Mitochondrial complex I deficiency, nuclear type 18, 618240 to Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240
Cardiomyopathy_Paediatric v1.273 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.273 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.272 NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.272 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from Mitochondrial complex I deficiency, nuclear type 10, 618233 to Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233
Cardiomyopathy_Paediatric v1.271 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.271 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.270 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.270 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Mitochondrial complex I deficiency, nuclear type 13, 618235 to Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235
Cardiomyopathy_Paediatric v1.269 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Cardiomyopathy_Paediatric v1.268 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.268 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.267 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.267 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Mitochondrial complex I deficiency, nuclear type 22, 618243 to Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243
Cardiomyopathy_Paediatric v1.266 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Cardiomyopathy_Paediatric v1.265 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.265 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, nuclear type 12, 301020 to Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020
Cardiomyopathy_Paediatric v1.264 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.263 NDUFA1 Zornitza Stark Classified gene: NDUFA1 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.263 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.262 NDUFA1 Zornitza Stark reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.262 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from Cardiomyopathy, familial hypertrophic, 8, to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Cardiomyopathy_Paediatric v1.261 MYL3 Zornitza Stark Publications for gene: MYL3 were set to
Cardiomyopathy_Paediatric v1.260 MYL3 Zornitza Stark Mode of inheritance for gene: MYL3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.259 MYL3 Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37477868; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.259 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S to Cardiomyopathy, hypertrophic, 1, MIM# 192600; Cardiomyopathy, dilated, 1S, MIM# 613426
Cardiomyopathy_Paediatric v1.258 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Cardiomyopathy_Paediatric v1.257 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.256 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 41380733; Phenotypes: Cardiomyopathy, hypertrophic, 1, MIM# 192600, Cardiomyopathy, dilated, 1S, MIM# 613426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.256 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy to Cardiomyopathy, hypertrophic, 4, MIM# 115197
Cardiomyopathy_Paediatric v1.255 MYBPC3 Zornitza Stark Publications for gene: MYBPC3 were set to
Cardiomyopathy_Paediatric v1.254 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.253 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 41572441; Phenotypes: Cardiomyopathy, hypertrophic, 4, MIM# 115197; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.253 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Cardiomyopathy_Paediatric v1.253 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Marked gene: MMUT as ready
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.253 MMUT Zornitza Stark Phenotypes for gene: MMUT were changed from Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonic aciduria, mut(0) type 251000; DCM; Methylmalonyl-CoA mutase deficiency (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612
Cardiomyopathy_Paediatric v1.252 MMUT Zornitza Stark Publications for gene: MMUT were set to 27604308
Cardiomyopathy_Paediatric v1.251 MMUT Zornitza Stark Classified gene: MMUT as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.251 MMUT Zornitza Stark Gene: mmut has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.250 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from Leigh syndrome, French-Canadian type, 220111 to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111
Cardiomyopathy_Paediatric v1.249 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26510951; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Marked gene: LMNA as ready
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.249 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant); Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic to Cardiomyopathy, dilated, 1A, MIM# 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516
Cardiomyopathy_Paediatric v1.248 LMNA Zornitza Stark Publications for gene: LMNA were set to 15148145; 18551513; 15622532
Cardiomyopathy_Paediatric v1.247 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 39998502; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.247 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from Danon disease; syndromic HCM to Danon disease, MIM#300257
Cardiomyopathy_Paediatric v1.246 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to 27604308
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Tag treatable tag was added to gene: IDH2.
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Marked gene: IDH2 as ready
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Gene: idh2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.245 IDH2 Zornitza Stark Phenotypes for gene: IDH2 were changed from D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2 to D-2-hydroxyglutaric aciduria 2, MIM# 613657
Cardiomyopathy_Paediatric v1.244 IDH2 Zornitza Stark Publications for gene: IDH2 were set to 24049096; 20847235
Cardiomyopathy_Paediatric v1.243 IDH2 Zornitza Stark edited their review of gene: IDH2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.243 IDH2 Zornitza Stark reviewed gene: IDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37248298, 20847235; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM# 613657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Marked gene: GUSB as ready
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.243 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease) to Mucopolysaccharidosis VII, MIM# 253220
Cardiomyopathy_Paediatric v1.242 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.242 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis, Type IV; GM1-gangliosidosis, type III, 230650; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; syndromic HCM; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010 to GM1-gangliosidosis, type I, MIM# 230500
Cardiomyopathy_Paediatric v1.241 GLB1 Zornitza Stark reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GM1-gangliosidosis, type I, MIM# 230500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Marked gene: GAA as ready
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Gene: gaa has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.241 GAA Zornitza Stark Phenotypes for gene: GAA were changed from HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease) to Pompe disease, infantile-onset, MIM# 232300
Cardiomyopathy_Paediatric v1.240 GAA Zornitza Stark Publications for gene: GAA were set to
Cardiomyopathy_Paediatric v1.239 GAA Zornitza Stark reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pompe disease, infantile-onset, MIM# 232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Marked gene: FLNC as ready
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.239 FLNC Zornitza Stark Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial dilated, 1PP, MIM# 617047; Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Cardiomyopathy_Paediatric v1.238 FLNC Zornitza Stark Publications for gene: FLNC were set to
Cardiomyopathy_Paediatric v1.237 FLNC Zornitza Stark edited their review of gene: FLNC: Added comment: DEFINITIVE association with DCM.

Generally adult-onset but onset in adolescence reported.; Changed phenotypes: Cardiomyopathy, familial dilated, 1PP, MIM# 617047, Cardiomyopathy, familial hypertrophic, 26, MIM# 617047
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.237 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Cardiomyopathy_Paediatric v1.236 FHL1 Zornitza Stark Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091
Cardiomyopathy_Paediatric v1.235 FHL1 Zornitza Stark edited their review of gene: FHL1: Added comment: PMID 42304238: reviewed 114 patients with pathogenic or likely pathogenic FHL1 variants. Most patients were male (69%), with a median age of onset of 18 (IQR 10-26) years. Cardiac involvement consisted in left ventricular hypertrophy (56%), followed by arrhythmias (51%), and conduction abnormalities (8%). The incidence of sudden cardiac death was 7%, and heart transplantation was reported in 5% of patients.; Changed publications: 42304238; Changed phenotypes: Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Marked gene: FAH as ready
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Phenotypes for gene: FAH were changed from HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I to Tyrosinaemia, type I, MIM# 276700
Cardiomyopathy_Paediatric v1.234 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24016420; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.234 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM to Vici syndrome, MIM# 242840
Cardiomyopathy_Paediatric v1.233 EPG5 Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Marked gene: EMD as ready
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.233 EMD Zornitza Stark Publications for gene: EMD were set to
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.232 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V to 3-methylglutaconic aciduria type 5, MONDO:0012435; 3-methylgutaconic aciduria, type V, OMIM:610198
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Marked gene: DMD as ready
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.231 DMD Zornitza Stark Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376 to Becker muscular dystrophy, MIM:300376; Cardiomyopathy, dilated, 3B, MIM:302045; Duchenne muscular dystrophy, MIM: 310200
Cardiomyopathy_Paediatric v1.230 DMD Zornitza Stark Publications for gene: DMD were set to
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Marked gene: DES as ready
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.229 DES Zornitza Stark Phenotypes for gene: DES were changed from Cardiomyopathy, dilated, 1I, to Cardiomyopathy, dilated, 1I, MIM# 604765
Cardiomyopathy_Paediatric v1.228 DES Zornitza Stark Publications for gene: DES were set to
Cardiomyopathy_Paediatric v1.227 DES Zornitza Stark Mode of inheritance for gene: DES was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.226 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 20423733; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Marked gene: CSRP3 as ready
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.226 CSRP3 Zornitza Stark Phenotypes for gene: CSRP3 were changed from Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12 to Cardiomyopathy, hypertrophic, 12, MIM# 612124
Cardiomyopathy_Paediatric v1.225 CSRP3 Zornitza Stark edited their review of gene: CSRP3: Changed publications: 18505755, 30681346, 34558151, 33035702, 31919335, 33012304, 37431535
Cardiomyopathy_Paediatric v1.225 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to 18505755; 30681346
Cardiomyopathy_Paediatric v1.224 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to
Cardiomyopathy_Paediatric v1.223 CSRP3 Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.222 CSRP3 Zornitza Stark edited their review of gene: CSRP3: Added comment: DEFINITIVE by ClinGen, biallelic cases in particular can present early.

The proposed association with DCM is LIMITED by ClinGen.; Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, hypertrophic, 12, MIM# 612124; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.222 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649; HCM, mixed; DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) to CPT II deficiency, infantile, MIM# 600649; CPT II deficiency, lethal neonatal, MIM# 608836
Cardiomyopathy_Paediatric v1.221 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.220 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, infantile, MIM# 600649, CPT II deficiency, lethal neonatal, MIM# 608836; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Marked gene: COX20 as ready
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Gene: cox20 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.220 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054
Cardiomyopathy_Paediatric v1.219 COX20 Zornitza Stark Classified gene: COX20 as Red List (low evidence)
Cardiomyopathy_Paediatric v1.219 COX20 Zornitza Stark Gene: cox20 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.218 COX20 Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Marked gene: CBL as ready
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.218 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563
Cardiomyopathy_Paediatric v1.217 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Marked gene: CACNA1C as ready
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.217 CACNA1C Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Cardiomyopathy_Paediatric v1.216 CACNA1C Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Cardiomyopathy_Paediatric v1.216 CACNA1C Zornitza Stark Publications for gene: CACNA1C were set to
Cardiomyopathy_Paediatric v1.215 CACNA1C Zornitza Stark Classified gene: CACNA1C as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.215 CACNA1C Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.214 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Cardiomyopathy_Paediatric v1.214 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.214 C10orf71 Zornitza Stark Marked gene: C10orf71 as ready
Cardiomyopathy_Paediatric v1.214 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Mitochondrial disease v2.8 ATP5F1D Zornitza Stark Classified gene: ATP5F1D as Amber List (moderate evidence)
Mitochondrial disease v2.8 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v2.7 ATP5F1D Zornitza Stark edited their review of gene: ATP5F1D: Added comment: LIMITED by ClinGen. Both reported families had homozygous missense variants. No further reports since 2018.; Changed rating: AMBER
Mendeliome v2.534 ATP5F1D Zornitza Stark Classified gene: ATP5F1D as Amber List (moderate evidence)
Mendeliome v2.534 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Amber List (Moderate Evidence).
Mendeliome v2.533 ATP5F1D Zornitza Stark edited their review of gene: ATP5F1D: Added comment: LIMITED by ClinGen. Both reported families had homozygous missense variants. No further reports since 2018.; Changed rating: AMBER
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Marked gene: ATP5F1D as ready
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Classified gene: ATP5F1D as Red List (low evidence)
Cardiomyopathy_Paediatric v1.214 ATP5F1D Zornitza Stark Gene: atp5f1d has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v1.213 ATP5F1D Zornitza Stark reviewed gene: ATP5F1D: Rating: RED; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.213 ALPK3 Zornitza Stark Phenotypes for gene: ALPK3 were changed from Cardiomyopathy, familial hypertrophic 27, 618052 to Cardiomyopathy, familial hypertrophic 27 MIM#618052
Cardiomyopathy_Paediatric v1.212 ALPK3 Zornitza Stark Publications for gene: ALPK3 were set to
Cardiomyopathy_Paediatric v1.211 ALPK3 Zornitza Stark Mode of inheritance for gene: ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Marked gene: AGL as ready
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Gene: agl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.210 AGL Zornitza Stark Phenotypes for gene: AGL were changed from Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400 to Glycogen storage disease IIIa and IIIb, MIM#232400
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Marked gene: AGK as ready
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.209 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 to Sengers syndrome, MIM#212350
Cardiomyopathy_Paediatric v1.208 AGK Zornitza Stark Publications for gene: AGK were set to
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Marked gene: ACTN2 as ready
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.207 ACTN2 Zornitza Stark Phenotypes for gene: ACTN2 were changed from Dilated Cardiomyopathy, Dominant; ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 to Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158
Cardiomyopathy_Paediatric v1.206 ACTN2 Zornitza Stark Publications for gene: ACTN2 were set to
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.205 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Cardiomyopathy, hypertrophic, 11 612098 to Cardiomyopathy, hypertrophic, 11, MIM# 612098
Cardiomyopathy_Paediatric v1.204 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11 to Cardiomyopathy, hypertrophic, 11 612098
Cardiomyopathy_Paediatric v1.203 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 11, MIM# 612098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.203 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; syndromic HCM; VLCAD deficiency; HCM to VLCAD deficiency, MIM#201475
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.202 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from Mitochondrial complex I deficiency, nuclear type 20, 611126 to acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624
Cardiomyopathy_Paediatric v1.201 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Marked gene: PCCA as ready
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.200 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia to propionic acidemia, MONDO:0011628
Cardiomyopathy_Paediatric v1.199 PCCA Zornitza Stark Publications for gene: PCCA were set to 27604308
Cardiomyopathy_Paediatric v1.198 PCCA Zornitza Stark reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 40172673, 39975893, 36395710; Phenotypes: propionic acidemia, MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.198 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) to combined oxidative phosphorylation defect type 8, MONDO:0013570
Cardiomyopathy_Paediatric v1.197 AARS2 Zornitza Stark Publications for gene: AARS2 were set to 25058219; 21549344
Cardiomyopathy_Paediatric v1.196 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40863384, 37293078, 30285085, 29440775, 25705216; Phenotypes: combined oxidative phosphorylation defect type 8, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.196 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; syndromic HCM; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451
Cardiomyopathy_Paediatric v1.195 SCO2 Zornitza Stark Publications for gene: SCO2 were set to 27604308
Cardiomyopathy_Paediatric v1.194 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29193756, 25720770; Phenotypes: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v2.63 ATM Bryony Thompson Classified gene: ATM as Amber List (moderate evidence)
Hereditary Neuropathy v2.63 ATM Bryony Thompson Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.62 ATM Bryony Thompson Deleted their review
Hereditary Neuropathy v2.62 ATM Bryony Thompson commented on gene: ATM
Hereditary Neuropathy v2.62 ATM Bryony Thompson Deleted their review
Hereditary Neuropathy v2.62 ATM Bryony Thompson Deleted their comment
Hereditary Neuropathy v2.62 ATM Bryony Thompson Classified gene: ATM as Green List (high evidence)
Hereditary Neuropathy v2.62 ATM Bryony Thompson Gene: atm has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.61 ATM Bryony Thompson reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 37540892, 32999401; Phenotypes: ataxia telangiectasia, MONDO:0008840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v2.61 GAA Bryony Thompson Marked gene: GAA as ready
Hereditary Neuropathy v2.61 GAA Bryony Thompson Gene: gaa has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.61 GAA Bryony Thompson Classified gene: GAA as Green List (high evidence)
Hereditary Neuropathy v2.61 GAA Bryony Thompson Gene: gaa has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.60 GAA Bryony Thompson Classified gene: GAA as Amber List (moderate evidence)
Hereditary Neuropathy v2.60 GAA Bryony Thompson Gene: gaa has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v2.59 GAA Bryony Thompson gene: GAA was added
gene: GAA was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 39731073; 34864681; 25835646
Phenotypes for gene: GAA were set to glycogen storage disease II, MONDO:0009290
Review for gene: GAA was set to GREEN
Added comment: Three studies report nine individuals from nine families with biallelic GAA loss‑of‑function variants presenting with peripheral neuropathy (small‑fibre or large‑fibre) as part of Pompe disease. PMID 39731073 describes six neuropathy patients from four independent families, PMID 25835646 adds two families with biopsy‑confirmed small‑fibre neuropathy, and PMID 34864681 reports one case of large‑fibre sensory neuropathy.
Sources: Literature
Hereditary Neuropathy v2.58 CNBP_DM2_CCTG Bryony Thompson changed review comment from: PMID 27401721 reports 9 individuals from 8 families with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2; to: PMID 27401721 reports 9/17 individuals with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2
Hereditary Neuropathy v2.58 CNBP_DM2_CCTG Bryony Thompson edited their review of STR: CNBP_DM2_CCTG: Added comment: PMID 27401721 reports 9 individuals from 8 families with autosomal dominant CNBP CCTG repeat expansions presenting with peripheral axonal motor and sensory polyneuropathy as part of myotonic dystrophy type 2. Peripheral neuropathy is a recognised, variably penetrant feature of DM2; Changed publications: 20301639, 11486088, 27401721
Hereditary Neuropathy v2.58 Bryony Thompson Copied STR CNBP_DM2_CCTG from panel Repeat Disorders
Hereditary Neuropathy v2.58 CNBP_DM2_CCTG Bryony Thompson STR: CNBP_DM2_CCTG was added
STR: CNBP_DM2_CCTG was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: CNBP_DM2_CCTG.
Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.194 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM to carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Cardiomyopathy_Paediatric v1.193 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to 27604308
Cardiomyopathy_Paediatric v1.192 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 36419912, 35360862, 34626609, 33634872; Phenotypes: carnitine-acylcarnitine translocase deficiency, MONDO:0008918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.28 CLP1 Sangavi Sivagnanasundram gene: CLP1 was added
gene: CLP1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 38622473; 34584079
Phenotypes for gene: CLP1 were set to pontocerebellar hypoplasia type 10, MONDO:0014349
Review for gene: CLP1 was set to AMBER
Added comment: PMID 38622473 reports 14 of 15 Turkish individuals with reported pontocerebellar hypoplasia and ataxia as a presenting phenotype however they all carry the same homozygous variant - c.419G>A p.Arg140His - FAF 0.002% in gnomAD v4.1. The authors speculate that this is a founder variant in the Turkish population.

PMID 34584079 describes functional assays conducted on patient fibroblast cell lines that show a loss-of-function effect compared to the WT.
Sources: Literature
Genomic newborn screening: BabyScreen+ v2.7 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Genomic newborn screening: BabyScreen+ v2.7 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.7 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687
Genomic newborn screening: BabyScreen+ v2.6 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v2.5 TMEM127 Zornitza Stark Classified gene: TMEM127 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v2.5 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.4 TMEM127 Zornitza Stark Tag TRAIL study tag was added to gene: TMEM127.
Genomic newborn screening: BabyScreen+ v2.4 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paraganglioma_phaeochromocytoma v2.2 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300 to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687
Paraganglioma_phaeochromocytoma v2.1 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687; Mode of inheritance: None
Mendeliome v2.533 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from {Pheochromocytoma, susceptibility to} 171300 to Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687
Mendeliome v2.532 TMEM127 Zornitza Stark edited their review of gene: TMEM127: Changed phenotypes: Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687
Cardiomyopathy_Paediatric v1.192 MMUT Eleanor Ludington reviewed gene: MMUT: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33453710, 32754920; Phenotypes: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v2.27 ATG12 Sangavi Sivagnanasundram gene: ATG12 was added
gene: ATG12 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ATG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG12 were set to 41895291
Phenotypes for gene: ATG12 were set to ATG12-related neurodevelopmental disorder, MONDO:0700092
Review for gene: ATG12 was set to AMBER
Added comment: PMID 41895291 reports two individuals (both from unrelated consanguineous families) with biallelic ATG12 variants presenting with congenital ataxia, developmental delay, intellectual disability, hypotonia, seizures and cerebellar vermis hypoplasia.
Sources: Literature
Cardiomyopathy_Paediatric v1.192 ACAD9 Eleanor Ludington reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30025539, 26669660, 21057504; Phenotypes: acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Marked gene: DSP as ready
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.192 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma to arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581; dilated cardiomyopathy, MONDO:0005021
Cardiomyopathy_Paediatric v1.191 DSP Zornitza Stark Publications for gene: DSP were set to
Cardiomyopathy_Paediatric v1.190 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 41175027, 41108751, 40406876, 40399739, 38992493, 38551768, 36270459, 32969603, 31024045, 30993396, 28699631; Phenotypes: arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581, dilated cardiomyopathy, MONDO:0005021; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.190 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; Dilated cardiomyopathy; Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine to congenital fiber-type disproportion myopathy, MONDO:0009711
Cardiomyopathy_Paediatric v1.189 ACTA1 Zornitza Stark Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537
Cardiomyopathy_Paediatric v1.188 ACTA1 Zornitza Stark reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39503885, 38559046, 35757965, 32969603; Phenotypes: congenital fiber-type disproportion myopathy, MONDO:0009711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Marked gene: COX15 as ready
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.188 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051
Cardiomyopathy_Paediatric v1.187 COX15 Zornitza Stark Publications for gene: COX15 were set to
Cardiomyopathy_Paediatric v1.186 COX15 Zornitza Stark edited their review of gene: COX15: Changed rating: GREEN
Cardiomyopathy_Paediatric v1.186 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 42001949, 32232962, 26940873, 2175025, 21412973; Phenotypes: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Marked gene: HCN4 as ready
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Gene: hcn4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.186 HCN4 Zornitza Stark Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome MONDO:0001823
Cardiomyopathy_Paediatric v1.185 HCN4 Zornitza Stark Publications for gene: HCN4 were set to
Cardiomyopathy_Paediatric v1.184 HCN4 Zornitza Stark reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 40613349, 39698436, 35893073, 35328031, 35257104, 34540771, 33185997; Phenotypes: Sick sinus syndrome MONDO:0001823; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.184 TNNI3K Zornitza Stark Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388
Cardiomyopathy_Paediatric v1.183 TNNI3K Zornitza Stark Publications for gene: TNNI3K were set to
Cardiomyopathy_Paediatric v1.182 TNNI3K Zornitza Stark reviewed gene: TNNI3K: Rating: GREEN; Mode of pathogenicity: None; Publications: 40904527, 40037387, 39272661, 37199186, 35274013; Phenotypes: cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Marked gene: ARSB as ready
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.182 ARSB Zornitza Stark Phenotypes for gene: ARSB were changed from MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6 to mucopolysaccharidosis type 6, MONDO:0009661
Cardiomyopathy_Paediatric v1.181 ARSB Zornitza Stark Publications for gene: ARSB were set to 27604308
Cardiomyopathy_Paediatric v1.180 ARSB Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36495517, 32075597; Phenotypes: mucopolysaccharidosis type 6, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa v1.12 RNU6-9 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-9.
Mendeliome v2.532 RNU6-9 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-9.
Retinitis pigmentosa v1.12 RNU6-8 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-8.
Mendeliome v2.532 RNU6-8 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-8.
Retinitis pigmentosa v1.12 RNU6-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-2.
Mendeliome v2.532 RNU6-2 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-2.
Retinitis pigmentosa v1.12 RNU6-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-1.
Mendeliome v2.532 RNU6-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU6-1.
Intellectual disability syndromic and non-syndromic v2.134 RNU5B-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU5B-1.
Mendeliome v2.532 RNU5B-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU5B-1.
Intellectual disability syndromic and non-syndromic v2.134 RNU5A-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU5A-1.
Mendeliome v2.532 RNU5A-1 Zornitza Stark Tag non-coding gene tag was added to gene: RNU5A-1.
Hereditary Pigmentary Disorders v2.0 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
IBMDx study v1.2 TERT Zornitza Stark Marked gene: TERT as ready
IBMDx study v1.2 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
IBMDx study v1.2 TERT Zornitza Stark Publications for gene: TERT were set to
IBMDx study v1.1 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v1.0 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Fetal anomalies v2.74 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Skeletal dysplasia v1.151 TERT Zornitza Stark Marked gene: TERT as ready
Skeletal dysplasia v1.151 TERT Zornitza Stark Gene: tert has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.151 TERT Zornitza Stark Phenotypes for gene: TERT were changed from Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Skeletal dysplasia v1.150 TERT Zornitza Stark Publications for gene: TERT were set to
Skeletal dysplasia v1.149 TERT Zornitza Stark Classified gene: TERT as Red List (low evidence)
Skeletal dysplasia v1.149 TERT Zornitza Stark Gene: tert has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.148 TERT Zornitza Stark edited their review of gene: TERT: Added comment: Not associated with skeletal dysplasia.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v2.134 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Intellectual disability syndromic and non-syndromic v2.134 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v2.10 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Pulmonary Fibrosis_Interstitial Lung Disease v2.5 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Ataxia v2.26 C19orf12 Sangavi Sivagnanasundram Classified gene: C19orf12 as Green List (high evidence)
Ataxia v2.26 C19orf12 Sangavi Sivagnanasundram Gene: c19orf12 has been classified as Green List (High Evidence).
Ataxia v2.25 C19orf12 Sangavi Sivagnanasundram gene: C19orf12 was added
gene: C19orf12 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to 39755877
Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation 4, MONDO:0013674
Review for gene: C19orf12 was set to GREEN
Added comment: Mitochondrial membrane protein-associated neurodegeneration (MPAN)/NBIA 4 is a rare neurodegenerative disorder characterised by spastic paraplegia, parkinsonism, and psychiatric and/or behavioural symptoms.

PMID 39755877 reports 4 individuals from 4 unrelated families with rare homozygous variants in C19orf12, with ataxia as a presenting feature.

Note, C19orf12 was formally known as SPG43
Sources: Literature
Mendeliome v2.532 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Cerebellar and Pontocerebellar Hypoplasia v2.5 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Bone Marrow Failure v2.9 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Haematological malignancies v0.148 TERT Zornitza Stark Tag non-coding gene tag was added to gene: TERT.
Repeat Disorders v1.13 TYMS_CPUM_ACCATC Bryony Thompson Marked STR: TYMS_CPUM_ACCATC as ready
Repeat Disorders v1.13 TYMS_CPUM_ACCATC Bryony Thompson Str: tyms_cpum_accatc has been classified as Red List (Low Evidence).
Repeat Disorders v1.13 TYMS_CPUM_ACCATC Bryony Thompson STR: TYMS_CPUM_ACCATC was added
STR: TYMS_CPUM_ACCATC was added to Repeat Disorders. Sources: Literature
Mode of inheritance for STR: TYMS_CPUM_ACCATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: TYMS_CPUM_ACCATC were set to 40589716
Phenotypes for STR: TYMS_CPUM_ACCATC were set to Congenital progressive universal melanosis MONDO:0013648
Review for STR: TYMS_CPUM_ACCATC was set to RED
Added comment: PMID 40589716 reports a single Thai family with 15-year-old monozygotic twin girls and congenital progressive universal melanosis (diffuse hyperpigmentation from birth). Both carry biallelic GATGGT hexanucleotide expansions in intron 3 of TYMS, reported as 210-259 repeats. Both parents are unaffected heterozygous carriers at age 56 (106/230-245 and 93/217-224).
The twins are monozygotic (KING kinship 0.4934).
In-house long-read controls (n=236) had 42-172 repeats, with 47% at 106 and no control carrying a long allele on both chromosomes.
Reduced TYMS expression is the proposed mechanism, but TYMS RNA in fibroblasts and PBMCs and protein in fibroblasts all fell within the control range. Further probands/families are required to confirm the gene-disease association.
Sources: Literature
Repeat Disorders v1.12 FAM193B_OPDM_CGG Bryony Thompson Marked STR: FAM193B_OPDM_CGG as ready
Repeat Disorders v1.12 FAM193B_OPDM_CGG Bryony Thompson Str: fam193b_opdm_cgg has been classified as Red List (Low Evidence).
Repeat Disorders v1.12 FAM193B_OPDM_CGG Bryony Thompson STR: FAM193B_OPDM_CGG was added
STR: FAM193B_OPDM_CGG was added to Repeat Disorders. Sources: Literature
Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781
Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193
Review for STR: FAM193B_OPDM_CGG was set to RED
Added comment: A single Undiagnosed Diseases Network family reported in PMID 38297326, 38585781 and doi 10.1101/2025.01.06.631535. 2 affected sisters had heterozygous 5'UTR CGG expansions of 198 and 194 repeats, inherited from their unaffected mother with 158 repeats. The unaffected father had 16 repeats.
No normal range is defined. Discovery cohort alleles were <~30 repeats.
No pathogenic threshold is defined. 194 repeats was the lowest number of repeats in an affected individual.
The sisters presented at 49 and 51 years. Blood FAM193B overexpression without promoter hypermethylation is the only functional evidence. A screen of ~50 OPDM long-read genomes found no second family.
Further probands/families are required to confirm the gene-disease association.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.7 TBC1D7_OPDM_CGG Bryony Thompson Marked STR: TBC1D7_OPDM_CGG as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.7 TBC1D7_OPDM_CGG Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.7 TBC1D7_OPDM_CGG Bryony Thompson Classified STR: TBC1D7_OPDM_CGG as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.7 TBC1D7_OPDM_CGG Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.6 TBC1D7_OPDM_CGG Bryony Thompson edited their review of STR: TBC1D7_OPDM_CGG: Changed rating: AMBER
Repeat Disorders v1.11 TBC1D7_OPDM_CGG Bryony Thompson Marked STR: TBC1D7_OPDM_CGG as ready
Repeat Disorders v1.11 TBC1D7_OPDM_CGG Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.11 TBC1D7_OPDM_CGG Bryony Thompson Classified STR: TBC1D7_OPDM_CGG as Amber List (moderate evidence)
Repeat Disorders v1.11 TBC1D7_OPDM_CGG Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.10 TBC1D7_OPDM_CGG Bryony Thompson edited their review of STR: TBC1D7_OPDM_CGG: Changed rating: AMBER
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.6 Bryony Thompson Copied STR TBC1D7_OPDM_CGG from panel Repeat Disorders
Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.6 TBC1D7_OPDM_CGG Bryony Thompson STR: TBC1D7_OPDM_CGG was added
STR: TBC1D7_OPDM_CGG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert Review Green,Literature
Mode of inheritance for STR: TBC1D7_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBC1D7_OPDM_CGG were set to 41959811
Phenotypes for STR: TBC1D7_OPDM_CGG were set to Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193
Repeat Disorders v1.10 TBC1D7_OPDM_CGG Bryony Thompson Classified STR: TBC1D7_OPDM_CGG as Green List (high evidence)
Repeat Disorders v1.10 TBC1D7_OPDM_CGG Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Green List (High Evidence).
Repeat Disorders v1.9 TBC1D7_OPDM_CGG Bryony Thompson STR: TBC1D7_OPDM_CGG was added
STR: TBC1D7_OPDM_CGG was added to Repeat Disorders. Sources: Literature
Mode of inheritance for STR: TBC1D7_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBC1D7_OPDM_CGG were set to 41959811
Phenotypes for STR: TBC1D7_OPDM_CGG were set to Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193
Review for STR: TBC1D7_OPDM_CGG was set to GREEN
Added comment: Preprint PMID 41959811 reports 3 families with a heterozygous 5'UTR CCG expansion in TBC1D7 and oculopharyngodistal myopathy. Affected individuals had 83, 87, 113, 137 and 148 repeats (n=5). All 3 families share a core 16 kb haplotype, consistent with a common ancestral origin. An unaffected transmitting father carries the largest allele, 184 repeats, hypermethylated. Gain of function is the proposed mechanism of disease. Patient-derived fibroblasts show increased TBC1D7 expression, and muscle biopsy shows p62-positive intranuclear inclusions, supporting a dominant toxic gain-of-function mechanism analogous to other CCG-expansion disorders. No normal range is defined. 79/70,752 GE control alleles had >50 repeats.
The reference and 94.3% of 1,718 control alleles carry an interrupted CCGCTG structure, while patient alleles are long pure CCG.
Sources: Literature
Ataxia v2.24 Bryony Thompson Copied STR EP400_SCA_CAG from panel Repeat Disorders
Ataxia v2.24 EP400_SCA_CAG Bryony Thompson STR: EP400_SCA_CAG was added
STR: EP400_SCA_CAG was added to Ataxia. Sources: Expert Review Amber,Literature
Mode of inheritance for STR: EP400_SCA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: EP400_SCA_CAG were set to 10.1101/2025.01.06.631535
Phenotypes for STR: EP400_SCA_CAG were set to Spinocerebellar ataxia, EP400-related MONDO:0000437
Repeat Disorders v1.8 EP400_SCA_CAG Bryony Thompson Marked STR: EP400_SCA_CAG as ready
Repeat Disorders v1.8 EP400_SCA_CAG Bryony Thompson Str: ep400_sca_cag has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.8 EP400_SCA_CAG Bryony Thompson Classified STR: EP400_SCA_CAG as Amber List (moderate evidence)
Repeat Disorders v1.8 EP400_SCA_CAG Bryony Thompson Str: ep400_sca_cag has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.7 EP400_SCA_CAG Bryony Thompson STR: EP400_SCA_CAG was added
STR: EP400_SCA_CAG was added to Repeat Disorders. Sources: Literature
Mode of inheritance for STR: EP400_SCA_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: EP400_SCA_CAG were set to 10.1101/2025.01.06.631535
Phenotypes for STR: EP400_SCA_CAG were set to Spinocerebellar ataxia, EP400-related MONDO:0000437
Review for STR: EP400_SCA_CAG was set to AMBER
Added comment: Preprint doi 10.1101/2025.01.06.631535 reports 2 unrelated families with an exonic CAG (polyglutamine) expansion in exon 47 of EP400 and spinocerebellar ataxia. A father and daughter had 56 and 58 pure CAG repeats. An affected child in the second family had 75.
The longest pure CAG tract in 543 control genomes was 24.
Normal 39 and pathogenic 71 are total allele length including CAA interruptions. The paper counts the longest pure CAG tract, 15 repeats lower.
No pathogenic threshold is defined. 56 repeats was the lowest in an affected individual. Ages of onset were 15, ~35, 42 and 43 years.
No functional analysis. Further probands/families are required to confirm the gene-disease association.
Comment on list classification: Two families only and no functional evidence.
Sources: Literature
Repeat Disorders v1.6 CSNK1E_FRA22A_CGG Bryony Thompson Marked STR: CSNK1E_FRA22A_CGG as ready
Repeat Disorders v1.6 CSNK1E_FRA22A_CGG Bryony Thompson Str: csnk1e_fra22a_cgg has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.6 CSNK1E_FRA22A_CGG Bryony Thompson Classified STR: CSNK1E_FRA22A_CGG as Amber List (moderate evidence)
Repeat Disorders v1.6 CSNK1E_FRA22A_CGG Bryony Thompson Str: csnk1e_fra22a_cgg has been classified as Amber List (Moderate Evidence).
Repeat Disorders v1.5 CSNK1E_FRA22A_CGG Bryony Thompson STR: CSNK1E_FRA22A_CGG was added
STR: CSNK1E_FRA22A_CGG was added to Repeat Disorders. Sources: Literature
Mode of inheritance for STR: CSNK1E_FRA22A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CSNK1E_FRA22A_CGG were set to 40751262; 39107278
Phenotypes for STR: CSNK1E_FRA22A_CGG were set to CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy
Review for STR: CSNK1E_FRA22A_CGG was set to AMBER
Added comment: PMID 39107278 and 40751262 report 4 unrelated families with a heterozygous CGG expansion in the 5'UTR of CSNK1E at fragile site FRA22A. 3 probands had developmental and epileptic encephalopathy and 1 had progressive myoclonic epilepsy from age 10.
Analysis of 1000 Genomes ONT data (n=908) suggests a normal range up to 48 repeats (98.7% <20).
Neither paper proposes a pathogenic threshold. The affected proband had 745 repeats, her unaffected 18-year-old sister 980 and their unaffected mother 131. An affected DEE proband had ~430-700 repeats and an unaffected carrier mother ~500.
Hypermethylation with ~50% reduced expression in fibroblasts is suggested to be the mechanism. The same hypermethylation was found in 6/23,116 controls.
Further probands/families are required to confirm the gene-disease association.
Comment on list classification: Unaffected carriers occur throughout the expansion range and no pathogenic threshold exists, and not useful in the clinical diagnostic setting.
Sources: Literature
Ataxia v2.23 ASL Sangavi Sivagnanasundram Classified gene: ASL as Amber List (moderate evidence)
Ataxia v2.23 ASL Sangavi Sivagnanasundram Gene: asl has been classified as Amber List (Moderate Evidence).
Ataxia v2.22 ASL Sangavi Sivagnanasundram gene: ASL was added
gene: ASL was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 38044746
Phenotypes for gene: ASL were set to argininosuccinic aciduria, MONDO:0008815
Review for gene: ASL was set to AMBER
Added comment: PMID 38044746 reports 7 unrelated individuals with argininosuccinic aciduria and ataxia as a presenting feature however only two of the individuals were reported to have genetic testing.
Both individuals presented with compound heterozygous variants that are present in gnomAD v4.1 but rare enough for AR association.
Sources: Literature
Ataxia v2.21 ALG6 Sangavi Sivagnanasundram Classified gene: ALG6 as Green List (high evidence)
Ataxia v2.21 ALG6 Sangavi Sivagnanasundram Gene: alg6 has been classified as Green List (High Evidence).
Ataxia v2.20 ACOX1 Sangavi Sivagnanasundram Classified gene: ACOX1 as Amber List (moderate evidence)
Ataxia v2.20 ACOX1 Sangavi Sivagnanasundram Gene: acox1 has been classified as Amber List (Moderate Evidence).
Ataxia v2.19 ACOX1 Sangavi Sivagnanasundram gene: ACOX1 was added
gene: ACOX1 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 38923841; 37846133
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MONDO:0030073
Review for gene: ACOX1 was set to AMBER
Added comment: Three unrelated individuals presenting with Mitchell syndrome, characterised by progressive gait ataxia, sensorineural hearing loss, visual impairment, ichthyosis and polyneuropathy.
They all carry the same heterozygous missense variant c.710A>G, p.Asn237Ser, which is absent in gnomAD v4.1.
Sources: Literature
Ataxia v2.18 ALG6 Sangavi Sivagnanasundram gene: ALG6 was added
gene: ALG6 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG6 were set to 27287710
Phenotypes for gene: ALG6 were set to ALG6-congenital disorder of glycosylation 1C, MONDO:0011291
Review for gene: ALG6 was set to GREEN
Added comment: Multiple individuals reported with ataxia as a presenting phenotype.
Note: two of the reported variants have a high FAF for an AR gene
c.257+5G>A - FAF 0.1133% in gnomAD v4.1
c.391T>C p.Tyr131His - FAF 3.787% in gnomAD v4.1. This is a known polymorphism in ALG6.
Sources: Literature
Ataxia v2.17 ABCA2 Sangavi Sivagnanasundram Classified gene: ABCA2 as Green List (high evidence)
Ataxia v2.17 ABCA2 Sangavi Sivagnanasundram Gene: abca2 has been classified as Green List (High Evidence).
Ataxia v2.16 ABCA2 Sangavi Sivagnanasundram Classified gene: ABCA2 as Green List (high evidence)
Ataxia v2.16 ABCA2 Sangavi Sivagnanasundram Gene: abca2 has been classified as Green List (High Evidence).
Ataxia v2.15 ABCA2 Sangavi Sivagnanasundram gene: ABCA2 was added
gene: ABCA2 was added to Ataxia. Sources: Literature
Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA2 were set to 38228874
Phenotypes for gene: ABCA2 were set to intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
Review for gene: ABCA2 was set to GREEN
Added comment: Biallelic ABCA2 variants present with a neurological disorder characterised by global developmental delay apparent from infancy, hypotonia, and poor overall growth, sometimes with borderline microcephaly.
3 unrelated individuals reported with ataxia as a presenting feature.
Sources: Literature
Hereditary Neuropathy v2.57 MTHFR Sangavi Sivagnanasundram Classified gene: MTHFR as Green List (high evidence)
Hereditary Neuropathy v2.57 MTHFR Sangavi Sivagnanasundram Gene: mthfr has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.56 MTHFR Sangavi Sivagnanasundram gene: MTHFR was added
gene: MTHFR was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 33089527; 33000330; 29284203
Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353
Review for gene: MTHFR was set to GREEN
Added comment: Neuropathy is a feature of this condition (typically peripheral neuropathy).
Sources: Literature
Hereditary Neuropathy v2.55 MMACHC Sangavi Sivagnanasundram Classified gene: MMACHC as Green List (high evidence)
Hereditary Neuropathy v2.55 MMACHC Sangavi Sivagnanasundram Gene: mmachc has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.54 MMACHC Sangavi Sivagnanasundram gene: MMACHC was added
gene: MMACHC was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 35109910; 33324334; 33000330; 32208535; 31092259; 25672861
Phenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184
Review for gene: MMACHC was set to GREEN
Added comment: Biallelic variants in MMACHC cause methylmalonic aciduria and homocystinuria type cblC. Neuropathy (particularly peripheral neuropathy (sensorimotor polyneuropathy)) is a presenting feature in affected individuals, accompanied by cognitive impairment, psychiatric symptoms, renal dysfunction and gait disturbance.
Sources: Literature
Hereditary Neuropathy v2.53 GLDN Sangavi Sivagnanasundram Classified gene: GLDN as Green List (high evidence)
Hereditary Neuropathy v2.53 GLDN Sangavi Sivagnanasundram Gene: gldn has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.52 GLDN Sangavi Sivagnanasundram gene: GLDN was added
gene: GLDN was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 35740734; 28726266; 27616481
Phenotypes for gene: GLDN were set to lethal congenital contracture syndrome 11, MONDO:0014965
Review for gene: GLDN was set to GREEN
Added comment: Biallelic GLDN variants are associated with lethal congenital contracture syndrome 11 (LCCS11) – a severe arthrogryposis multiplex congenita with peripheral neuropathy, respiratory insufficiency and polyhydramnios.

Neuropathy is a presenting feature of this condition. >4 unrelated families presented with neuropathy/ abnormal transmission electron microscopy findings
Sources: Literature
Hereditary Neuropathy v2.51 DNM1L Sangavi Sivagnanasundram Classified gene: DNM1L as Green List (high evidence)
Hereditary Neuropathy v2.51 DNM1L Sangavi Sivagnanasundram Gene: dnm1l has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.50 DNM1L Sangavi Sivagnanasundram gene: DNM1L was added
gene: DNM1L was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNM1L were set to 41244260; 38481935; 36212643; 33718295; 31868880
Phenotypes for gene: DNM1L were set to encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865
Review for gene: DNM1L was set to GREEN
Added comment: >5 unrelated probands reported with an early-onset (0-10 years of age) neurodevelopmental disorder characterised by peripheral sensory neuropathy, developmental delay, seizures, spasticity, ataxia and optic atrophy.
One individual reported in 36212643 presented with neuropathy at the age of 32; however, other features were present from birth.
33718295 - reported a case with a rare de novo heterozygous missense variant in DNM1L
Functional studies showed mitochondrial hyperfusion, reduced GTPase activity and decreased DNM1L protein.
Sources: Literature
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.180 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, nuclear type 4, 618225 to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Cardiomyopathy_Paediatric v1.179 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Cardiomyopathy_Paediatric v1.178 NDUFV1 Zornitza Stark reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41140551, 39525154, 35482246; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.178 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from Mitochondrial complex I deficiency, nuclear type 2, 618222 to mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606
Cardiomyopathy_Paediatric v1.177 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Cardiomyopathy_Paediatric v1.176 NDUFS8 Zornitza Stark reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38229652, 36462614, 9837812; Phenotypes: mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.176 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from Cardiofaciocutaneous syndrome 4 615280; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 4; syndromic HCM; CFC syndrome to cardiofaciocutaneous syndrome 4, MONDO:0014114
Cardiomyopathy_Paediatric v1.175 MAP2K2 Zornitza Stark reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37697378; Phenotypes: cardiofaciocutaneous syndrome 4, MONDO:0014114; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v2.49 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Hereditary Neuropathy v2.49 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.49 PNPT1 Zornitza Stark Classified gene: PNPT1 as Green List (high evidence)
Hereditary Neuropathy v2.49 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.48 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: PNPT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PNPT1 were set to 39924761; 39899068; 28708278; 27759031
Phenotypes for gene: PNPT1 were set to combined oxidative phosphorylation defect type 13, MONDO:0013977; spinocerebellar ataxia type 25, MONDO:0012103
Review for gene: PNPT1 was set to GREEN
Added comment: Mono-allelic association:
PMID 39899068 and PMID 39924761 report three unrelated families with heterozygous loss‑of‑function variants in PNPT1 causing spinocerebellar ataxia type 25 (SCA25), characterised by progressive cerebellar ataxia, cerebellar atrophy and sensory neuropathy.

Bi-allelic association:
PMID 27759031 describes a consanguineous family with compound heterozygous missense variants leading to a combined oxidative phosphorylation defect type 13, presenting with severe early‑onset axonal peripheral neuropathy, optic atrophy, auditory neuropathy, intellectual disability and multisystem involvement (1 family, 2 patients); functional studies in patient fibroblasts showed loss of PNPT1 protein and rescue by wild‑type expression.
Sources: Literature
Hereditary Neuropathy v2.47 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Hereditary Neuropathy v2.47 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.47 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Hereditary Neuropathy v2.47 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.46 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 41765988; 37206914; 35868801
Phenotypes for gene: LAMA2 were set to LAMA2-related muscular dystrophy MONDO:0100228
Review for gene: LAMA2 was set to GREEN
Added comment: Classically a muscular dystrophy, however PMID 37206914 reports 19 individuals from 17 families with autosomal recessive limb‑girdle muscular dystrophy (LGMD R23) in which 46.7 % have motor neuropathy; and additional reports identified.
Sources: Literature
Hereditary Neuropathy v2.45 FDXR Zornitza Stark Marked gene: FDXR as ready
Hereditary Neuropathy v2.45 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.45 FDXR Zornitza Stark Classified gene: FDXR as Green List (high evidence)
Hereditary Neuropathy v2.45 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.44 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 38885337; 37046037; 33742450; 30250212
Phenotypes for gene: FDXR were set to optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, MONDO:0034092
Review for gene: FDXR was set to GREEN
Added comment: Peripheral neuropathy is a feature of this condition.
Sources: Literature
Hereditary Neuropathy v2.43 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Hereditary Neuropathy v2.43 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.43 PIEZO2 Zornitza Stark Classified gene: PIEZO2 as Green List (high evidence)
Hereditary Neuropathy v2.43 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.42 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Hereditary Neuropathy. Sources: Literature
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 31968264; 30941898; 27974811; 27653382
Phenotypes for gene: PIEZO2 were set to arthrogryposis, distal, with impaired proprioception and touch, MONDO:0014941
Review for gene: PIEZO2 was set to GREEN
Added comment: Impaired proprioception and sensory neuropathy are a key feature of the phenotype.
Sources: Literature
Hereditary Neuropathy v2.41 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Hereditary Neuropathy v2.41 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.41 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Hereditary Neuropathy v2.41 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v2.40 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Hereditary Neuropathy. Sources: Literature
mtDNA tags were added to gene: MT-ATP6.
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 39677188; 38549004; 36434790; 34953645; 34635923; 33476484; 32042921; 31424416; 31187502; 30136164; 27783406; 27502083; 27015314
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Review for gene: MT-ATP6 was set to GREEN
Added comment: Peripheral neuropathy is a common feature.
Sources: Literature
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.175 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6, 618228 to mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611
Cardiomyopathy_Paediatric v1.174 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Cardiomyopathy_Paediatric v1.173 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36462614, 22036843; Phenotypes: mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.173 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010 to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Cardiomyopathy_Paediatric v1.172 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Cardiomyopathy_Paediatric v1.171 NDUFS4 Zornitza Stark edited their review of gene: NDUFS4: Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Cardiomyopathy_Paediatric v1.171 NDUFS4 Zornitza Stark reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29101127, 22326555; Phenotypes: Leigh syndrome, MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Macrocystic Disease v2.0 SLC34A3 Sarah Ostrowski gene: SLC34A3 was added
gene: SLC34A3 was added to Renal Macrocystic Disease. Sources: Literature
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A3 were set to PMID: 35386604; 37981601
Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Review for gene: SLC34A3 was set to GREEN
gene: SLC34A3 was marked as current diagnostic
Added comment: PMID: 35386604: case series of individuals with hypophosphatemic rickets with
hypercalciuria AND kidney cysts, reports 4 unrelated individuals with biallelic SLC34A3 variants and multiple kidney cysts.
PMID: 37981601: another 2 HHRH patients from the same family with biallelic variants, also reported with renal cysts.
Sources: Literature
Mendeliome v2.532 CHRNA1 Lucy Spencer Mode of inheritance for gene: CHRNA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v2.531 CHRNA1 Lucy Spencer reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158151, 8872460, 15079006; Phenotypes: Congenital myasthenic 1A slow channel MIM#601462, Congenital myasthenic 1B fast channel MIM#608930, Multiple pterygium syndrome, lethal type MIM#253290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.74 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Fetal anomalies v2.74 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Fetal anomalies v2.74 Zornitza Stark Copied gene MYF5 from panel Skeletal dysplasia
Fetal anomalies v2.74 MYF5 Zornitza Stark gene: MYF5 was added
gene: MYF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to 38927634; 35186005; 32815649; 29887215
Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, MONDO:0032565
Skeletal dysplasia v1.148 MYF5 Zornitza Stark Marked gene: MYF5 as ready
Skeletal dysplasia v1.148 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.148 MYF5 Zornitza Stark Mode of inheritance for gene: MYF5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MYF5 Zornitza Stark changed review comment from: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported.
Sources: Literature; to: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported and a mouse model.
Sources: Literature
Skeletal dysplasia v1.147 MYF5 Zornitza Stark edited their review of gene: MYF5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.147 MYF5 Zornitza Stark Classified gene: MYF5 as Green List (high evidence)
Skeletal dysplasia v1.147 MYF5 Zornitza Stark Gene: myf5 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.146 MYF5 Zornitza Stark gene: MYF5 was added
gene: MYF5 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MYF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to 38927634; 35186005; 32815649; 29887215
Phenotypes for gene: MYF5 were set to Ophthalmoplegia, external, with rib and vertebral anomalies, MONDO:0032565
Review for gene: MYF5 was set to GREEN
Added comment: MYF5 variants are associated with skeletal malformations, including congenital scoliosis and external ophthalmoplegia with rib and vertebral anomalies (EORVA), 5 families reported.
Sources: Literature
Skeletal dysplasia v1.145 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Skeletal dysplasia v1.145 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.145 LARP7 Zornitza Stark Classified gene: LARP7 as Green List (high evidence)
Skeletal dysplasia v1.145 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.144 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 40129845; 37529055; 26607181; 26374271
Phenotypes for gene: LARP7 were set to microcephalic primordial dwarfism, Alazami type, MONDO:0014031
Review for gene: LARP7 was set to GREEN
Added comment: Four individuals from different families reported with biallelic LARP7 variants associated with Alazami syndrome, a microcephalic primordial dwarfism disorder characterised by severe growth failure, profound intellectual disability and distinctive facial dysmorphism; functional studies demonstrate reduced LARP7 protein expression.
Sources: Literature
Skeletal dysplasia v1.143 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Skeletal dysplasia v1.143 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.143 INTS13 Zornitza Stark Classified gene: INTS13 as Green List (high evidence)
Skeletal dysplasia v1.143 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.142 INTS13 Zornitza Stark changed review comment from: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature.
Sources: Literature; to: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature. INTS13 is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies.
Skeletal dysplasia v1.142 INTS13 Zornitza Stark gene: INTS13 was added
gene: INTS13 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to 36229431
Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375, INTS13-related
Review for gene: INTS13 was set to GREEN
Added comment: PMID 36229431 reports 4 individuals from 2 families with autosomal recessive oral‑facial‑digital syndrome type 2 (OFD2) caused by homozygous loss‑of‑function INTS13 variants; affected individuals present with cleft lip, craniofacial dysmorphism, digital anomalies and short stature.
Sources: Literature
Skeletal dysplasia v1.141 CYP3A4 Zornitza Stark Marked gene: CYP3A4 as ready
Skeletal dysplasia v1.141 CYP3A4 Zornitza Stark Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.141 CYP3A4 Zornitza Stark Classified gene: CYP3A4 as Amber List (moderate evidence)
Skeletal dysplasia v1.141 CYP3A4 Zornitza Stark Gene: cyp3a4 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.140 CYP3A4 Zornitza Stark Tag treatable tag was added to gene: CYP3A4.
Skeletal dysplasia v1.140 CYP3A4 Zornitza Stark gene: CYP3A4 was added
gene: CYP3A4 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CYP3A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP3A4 were set to 38179381; 36656330; 29461981
Phenotypes for gene: CYP3A4 were set to vitamin D-dependent rickets, type 3, MONDO:0033640
Review for gene: CYP3A4 was set to AMBER
Added comment: Four families with the CYP3A4 c.902T>C (p.Ile301Thr) missense variant reported presenting with vitamin D‑dependent rickets type 3 (VDDR3), a childhood‑onset disorder characterised by rickets, growth arrest, bone deformities and accelerated vitamin D metabolite inactivation. The variant shows gain‑of‑function activity in vitro, and the disease is treatable with high‑dose vitamin D therapy.

Amber rating as all families have had the same variant. Different ethnic backgrounds make founder effect unlikely.
Sources: Literature
Skeletal dysplasia v1.139 HSPA9 Zornitza Stark changed review comment from: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease
Sources: Literature; to: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease.

Epiphyseal and vertebral abnormalities are a feature.

Sources: Literature
Skeletal dysplasia v1.139 MAP3K20 Zornitza Stark Marked gene: MAP3K20 as ready
Skeletal dysplasia v1.139 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.139 MAP3K20 Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence)
Skeletal dysplasia v1.139 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.138 MAP3K20 Zornitza Stark gene: MAP3K20 was added
gene: MAP3K20 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MAP3K20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 39648035; 38451290; 32266845; 32266845; 26755636; 26755636
Phenotypes for gene: MAP3K20 were set to split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
Review for gene: MAP3K20 was set to GREEN
Added comment: Split hand‑foot malformation with ectodermal dysplasia, craniosynostosis and sensorineural hearing loss (dominant): PMID 38451290 reports five families and PMID 39648035 reports one family with de novo heterozygous MAP3K20 variants, totalling six families.

Split‑foot malformation‑mesoaxial polydactyly syndrome (recessive): PMID 26755636 describes two unrelated consanguineous families (five patients) with homozygous loss‑of‑function MAP3K20 variants.
Sources: Literature
Skeletal dysplasia v1.137 HMGB1 Zornitza Stark Marked gene: HMGB1 as ready
Skeletal dysplasia v1.137 HMGB1 Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.137 HMGB1 Zornitza Stark Classified gene: HMGB1 as Green List (high evidence)
Skeletal dysplasia v1.137 HMGB1 Zornitza Stark Gene: hmgb1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.136 HMGB1 Zornitza Stark gene: HMGB1 was added
gene: HMGB1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 36755093; 34159400
Phenotypes for gene: HMGB1 were set to brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905
Review for gene: HMGB1 was set to GREEN
Added comment: PMID 34159400 reports 1 individual with a de novo heterozygous frameshift HMGB1 variant causing severe mirror‑image foot polydactyly, a monogenic autosomal‑dominant condition.

PMID 36755093 reports 5 individuals from 5 families with de novo heterozygous frameshift HMGB1 variants causing Brachyphalangy, Polydactyly and Tibial Aplasia syndrome (BPTAS).
Sources: Literature
Skeletal dysplasia v1.135 GGCX Zornitza Stark Marked gene: GGCX as ready
Skeletal dysplasia v1.135 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Skeletal dysplasia v1.135 GGCX Zornitza Stark Classified gene: GGCX as Green List (high evidence)
Skeletal dysplasia v1.135 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Skeletal dysplasia v1.134 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 41521578; 41030118; 40876756; 40562611; 34558179; 26758921
Phenotypes for gene: GGCX were set to vitamin K-dependent clotting factors, combined deficiency of, type 1, MONDO:0010187
Review for gene: GGCX was set to GREEN
Added comment: Established gene-disease association. Chondrodysplasia punctata is a feature.
Sources: Literature
Skeletal dysplasia v1.133 IQCE Zornitza Stark Marked gene: IQCE as ready
Skeletal dysplasia v1.133 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Skeletal dysplasia v1.133 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Skeletal dysplasia v1.133 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Skeletal dysplasia v1.132 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 38818822; 31549751; 28488682
Phenotypes for gene: IQCE were set to postaxial polydactyly type A, MONDO:0019673
Review for gene: IQCE was set to GREEN
Added comment: Five families (ten individuals) reported with biallelic IQCE variants and postaxial polydactyly.
Sources: Literature
Skeletal dysplasia v1.131 FOXI3 Zornitza Stark Marked gene: FOXI3 as ready
Skeletal dysplasia v1.131 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.131 FOXI3 Zornitza Stark Mode of inheritance for gene: FOXI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.130 FOXI3 Zornitza Stark edited their review of gene: FOXI3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.130 FOXI3 Zornitza Stark Classified gene: FOXI3 as Green List (high evidence)
Skeletal dysplasia v1.130 FOXI3 Zornitza Stark Gene: foxi3 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.129 FOXI3 Zornitza Stark gene: FOXI3 was added
gene: FOXI3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: FOXI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXI3 were set to 41639043; 40128339; 37041148; 36260083
Phenotypes for gene: FOXI3 were set to craniofacial microsomia 2, MONDO:0958194
Review for gene: FOXI3 was set to GREEN
Added comment: Over 20 families reported, this is a type of mandibulofacial dysostosis.
Sources: Literature
Fetal anomalies v2.73 CPLANE2 Zornitza Stark Phenotypes for gene: CPLANE2 were changed from Ciliopathy, MONDO:0005308, RSG1-related to Ciliopathy, MONDO:0005308, CPLANE2-related
Fetal anomalies v2.72 CPLANE2 Zornitza Stark edited their review of gene: CPLANE2: Changed phenotypes: Ciliopathy, MONDO:0005308, CPLANE2-related
Clefting disorders v1.25 CPLANE2 Zornitza Stark Phenotypes for gene: CPLANE2 were changed from Ciliopathy, MONDO:0005308, RSG1-related to Ciliopathy, MONDO:0005308, CPLANE2-related
Clefting disorders v1.24 CPLANE2 Zornitza Stark edited their review of gene: CPLANE2: Changed phenotypes: Ciliopathy, MONDO:0005308, CPLANE2-related
Polydactyly v1.20 CPLANE2 Zornitza Stark Phenotypes for gene: CPLANE2 were changed from Ciliopathy, MONDO:0005308, RSG1-related to Ciliopathy, MONDO:0005308, CPLANE2-related
Polydactyly v1.19 CPLANE2 Zornitza Stark edited their review of gene: CPLANE2: Changed phenotypes: Ciliopathy, MONDO:0005308, CPLANE2-related
Mendeliome v2.531 CPLANE2 Zornitza Stark Phenotypes for gene: CPLANE2 were changed from Ciliopathy, MONDO:0005308, RSG1-related to Ciliopathy, MONDO:0005308, CPLANE2-related
Mendeliome v2.530 CPLANE2 Zornitza Stark edited their review of gene: CPLANE2: Changed phenotypes: Ciliopathy, MONDO:0005308, CPLANE2-related
Ciliopathies v2.18 CPLANE2 Zornitza Stark Phenotypes for gene: CPLANE2 were changed from Ciliopathy, MONDO:0005308, RSG1-related to Ciliopathy, MONDO:0005308, CPLANE2-related
Skeletal dysplasia v1.128 CPLANE2 Zornitza Stark Marked gene: CPLANE2 as ready
Skeletal dysplasia v1.128 CPLANE2 Zornitza Stark Gene: cplane2 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.128 CPLANE2 Zornitza Stark Classified gene: CPLANE2 as Green List (high evidence)
Skeletal dysplasia v1.128 CPLANE2 Zornitza Stark Gene: cplane2 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.127 CPLANE2 Zornitza Stark gene: CPLANE2 was added
gene: CPLANE2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: CPLANE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPLANE2 were set to 40593758; 39386566
Phenotypes for gene: CPLANE2 were set to Ciliopathy, MONDO:0005308, CPLANE2-related
Review for gene: CPLANE2 was set to GREEN
Added comment: PMID 40593758 reports three individuals from unrelated families with biallelic loss-of-function CPLANE2 variants and oral‑facial‑digital syndrome, a syndrome featuring cleft palate, tongue lobulation, pre‑ and post‑axial polydactyly, renal cystic dysplasia and occasional cardiac defects. Variant‑specific functional assays in Xenopus demonstrate disrupted basal‑body docking and impaired IFT‑A2 recruitment.

Ciliopathy with skeletal manifestations.
Sources: Literature
Ciliopathies v2.17 CPLANE2 Zornitza Stark edited their review of gene: CPLANE2: Changed phenotypes: Ciliopathy, MONDO:0005308, CPLANE2-related
Skeletal dysplasia v1.126 COPB2 Zornitza Stark Marked gene: COPB2 as ready
Skeletal dysplasia v1.126 COPB2 Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.126 COPB2 Zornitza Stark Classified gene: COPB2 as Green List (high evidence)
Skeletal dysplasia v1.126 COPB2 Zornitza Stark Gene: copb2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v2.9 COPB2 Zornitza Stark Mode of inheritance for gene: COPB2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v2.8 COPB2 Zornitza Stark edited their review of gene: COPB2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.125 COPB2 Zornitza Stark gene: COPB2 was added
gene: COPB2 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COPB2 were set to 34450031
Phenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Review for gene: COPB2 was set to GREEN
Added comment: PMID 34450031 reports four unrelated heterozygous loss-of-function variants across four families causing early‑onset osteoporosis, fractures and developmental delay (Monoallelic). Additionally, two siblings homozygous for a missense variant in a fifth family present with microcephaly, severe developmental delay and low bone mass (Biallelic).
Sources: Literature
Fetal anomalies v2.72 ATRIP Zornitza Stark Phenotypes for gene: ATRIP were changed from Seckel Syndrome to Seckel syndrome, MONDO:0019342, ATRIP-related
Fetal anomalies v2.71 ATRIP Zornitza Stark Publications for gene: ATRIP were set to 23144622
Fetal anomalies v2.70 ATRIP Zornitza Stark Classified gene: ATRIP as Green List (high evidence)
Fetal anomalies v2.70 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Growth failure v2.28 ATRIP Zornitza Stark Phenotypes for gene: ATRIP were changed from Seckel-like syndrome to Seckel syndrome, MONDO:0019342, ATRIP-related
Growth failure v2.27 ATRIP Zornitza Stark Publications for gene: ATRIP were set to 23144622
Growth failure v2.26 ATRIP Zornitza Stark Classified gene: ATRIP as Green List (high evidence)
Growth failure v2.26 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Growth failure v2.25 ATRIP Zornitza Stark edited their review of gene: ATRIP: Added comment: PMID 40029331 reports 3 individuals from three families with biallelic ATRIP splice variants presenting with microcephalic primordial dwarfism and combined immunodeficiency. Affected individuals exhibit severe intrauterine growth restriction, post‑natal short stature, microcephaly and recurrent infections.; Changed rating: GREEN; Changed publications: 23144622, 40029331; Changed phenotypes: Seckel syndrome, MONDO:0019342, ATRIP-related
Microcephaly v2.31 ATRIP Zornitza Stark Phenotypes for gene: ATRIP were changed from Seckel Syndrome to Seckel syndrome, MONDO:0019342, ATRIP-related
Microcephaly v2.30 ATRIP Zornitza Stark Publications for gene: ATRIP were set to 23144622
Microcephaly v2.29 ATRIP Zornitza Stark Classified gene: ATRIP as Green List (high evidence)
Microcephaly v2.29 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Mendeliome v2.530 ATRIP Zornitza Stark Publications for gene: ATRIP were set to 23144622
Mendeliome v2.529 ATRIP Zornitza Stark Classified gene: ATRIP as Green List (high evidence)
Mendeliome v2.529 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Microcephaly v2.28 Zornitza Stark Added reviews for gene ATRIP from panel Skeletal dysplasia
Mendeliome v2.528 Zornitza Stark Added reviews for gene ATRIP from panel Skeletal dysplasia
Growth failure v2.25 Zornitza Stark Added reviews for gene ATRIP from panel Skeletal dysplasia
Fetal anomalies v2.69 Zornitza Stark Added reviews for gene ATRIP from panel Skeletal dysplasia
Skeletal dysplasia v1.124 ATRIP Zornitza Stark Marked gene: ATRIP as ready
Skeletal dysplasia v1.124 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Skeletal dysplasia v1.124 ATRIP Zornitza Stark Classified gene: ATRIP as Green List (high evidence)
Skeletal dysplasia v1.124 ATRIP Zornitza Stark Gene: atrip has been classified as Green List (High Evidence).
Skeletal dysplasia v1.123 ATRIP Zornitza Stark gene: ATRIP was added
gene: ATRIP was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 40029331
Phenotypes for gene: ATRIP were set to Seckel syndrome, MONDO:0019342, ATRIP-related
Review for gene: ATRIP was set to GREEN
Added comment: PMID 40029331 reports 3 individuals from three families with biallelic ATRIP splice variants presenting with microcephalic primordial dwarfism and combined immunodeficiency. Affected individuals exhibit severe intrauterine growth restriction, post‑natal short stature, microcephaly and recurrent infections.
Sources: Literature
Skeletal dysplasia v1.122 ASAH1 Zornitza Stark changed review comment from: Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age.

Severe perinatal disorder.; to: Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age.

Severe perinatal disorder.

Peripheral osteolysis is a feature.
Paraganglioma_phaeochromocytoma v2.1 MAX Zornitza Stark Phenotypes for gene: MAX were changed from Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma, susceptibility to, MIM#171300 to Multiple endocrine neoplasia, type V, MIM# 621678
Paraganglioma_phaeochromocytoma v2.0 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia, type V, MIM# 621678; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v2.4 MAX Zornitza Stark edited their review of gene: MAX: Changed phenotypes: Multiple endocrine neoplasia, type V, MIM# 621678; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v2.4 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v2.3 MAX Zornitza Stark Marked gene: MAX as ready
Genomic newborn screening: BabyScreen+ v2.3 MAX Zornitza Stark Gene: max has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v2.3 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to Multiple endocrine neoplasia, type V, MIM# 621678
Genomic newborn screening: BabyScreen+ v2.2 MAX Zornitza Stark Classified gene: MAX as Red List (low evidence)