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| Ataxia - paediatric v0.324 | WARS2 |
Zornitza Stark gene: WARS2 was added gene: WARS2 was added to Ataxia - paediatric. Sources: Expert Review Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WARS2 were set to 29120065; 31970218; 34890876; 28236339; 28650581; 28905505; 30920170 Phenotypes for gene: WARS2 were set to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Review for gene: WARS2 was set to GREEN Added comment: Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances. 8 individuals from 4 families reported. NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding. 12 individuals from 8 unrelated families reported. It is unclear whether these are two distinct disorders or whether they represent a spectrum of severity for a single condition. Sources: Expert Review |
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| Ataxia - paediatric v0.278 | VPS41 |
Zornitza Stark gene: VPS41 was added gene: VPS41 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS41 were set to 32808683; 33764426 Phenotypes for gene: VPS41 were set to Dystonia; intellectual disability; ataxia; cerebellar atrophy Review for gene: VPS41 was set to GREEN Added comment: 10 individuals from 6 unrelated families reported with a progressive neurodevelopmental disorder. Affected individuals were born after uneventful pregnancies and presented in most cases early in life with developmental delay. Various degrees of ataxia, hypotonia, and dystonia developed in all affected individuals, preventing independent ambulation. Likewise, nystagmus was commonly described. In addition, all affected individuals displayed intellectual disability and speech delay, and one sib pair had treatment-resistant epilepsy. Brain MRI revealed mild cerebellar atrophy and vermian atrophy without other major structural abnormalities in most affected individuals. Sources: Literature |
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| Ataxia - paediatric v0.210 | SLC44A1 |
Zornitza Stark gene: SLC44A1 was added gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC44A1 were set to 31855247 Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Review for gene: SLC44A1 was set to GREEN Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial. Sources: Literature |
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| Ataxia - paediatric v0.82 | ATM | Bryony Thompson Marked gene: ATM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.82 | ATM | Bryony Thompson Gene: atm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.82 | ATM | Bryony Thompson Classified gene: ATM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.82 | ATM | Bryony Thompson Gene: atm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.81 | ATM |
Bryony Thompson gene: ATM was added gene: ATM was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia MIM#208900 Review for gene: ATM was set to GREEN Added comment: Onset of ataxia is usually in childhood. Sources: Expert list |
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