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| Hereditary Neuropathy - complex v0.73 | STUB1 | Zornitza Stark Classified gene: STUB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.73 | STUB1 | Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.72 | STUB1 |
Zornitza Stark gene: STUB1 was added gene: STUB1 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STUB1 were set to 32342324; 32337344 Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Review for gene: STUB1 was set to GREEN Added comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic– clonic seizures (4/31), peripheral nervous system involvement (4/12). PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline. Neuropathy is a feature of the more severe, bi-allelic disorder. Sources: Literature |
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