| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - adult onset v0.15 | IFRD1 | Bryony Thompson Marked gene: IFRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.15 | IFRD1 | Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.15 | IFRD1 |
Bryony Thompson gene: IFRD1 was added gene: IFRD1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFRD1 were set to 29362493; 28601596; 19409521 Phenotypes for gene: IFRD1 were set to Spinocerebellar ataxia 18 MIM#607458 Review for gene: IFRD1 was set to RED Added comment: The variant (c.514 A>G, p.I172V) was identified in a 5-generation American family of Irish ancestry with sensorimotor neuropathy with ataxia in two affected individuals sequenced. It is too common (0.3%) for a dominant condition in the African population in gnomAD. The same variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a Chinese family. No functional analyses of the variant has been conducted. A different variant (c.4C>G p.Pro2Ala) in the gene has been identified in a case with isolated palatal tremor, with no ataxia in the case or reported in the family. SCA18 is currently mapped to the genomic region on OMIM, not this gene. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||