| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - adult onset v0.132 | SDHA | Zornitza Stark Marked gene: SDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.132 | SDHA | Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.132 | SDHA | Zornitza Stark Classified gene: SDHA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.132 | SDHA | Zornitza Stark Gene: sdha has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.131 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHA were set to 10976639; 27683074 Phenotypes for gene: SDHA were set to Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Review for gene: SDHA was set to AMBER Added comment: NDAXOA and mono-allelic variants: 5 individuals from two unrelated families reported in PMIDs: 10976639;27683074. Most affected individuals presented in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some had a childhood history of neurologic features, including limited extraocular movements. Additional features reported included cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||