| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Regression v0.570 | SLC33A1 | Zornitza Stark Marked gene: SLC33A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.570 | SLC33A1 | Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.570 | SLC33A1 | Zornitza Stark Classified gene: SLC33A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.570 | SLC33A1 | Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.569 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Regression. Sources: Literature Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC33A1 were set to 31194315 Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Review for gene: SLC33A1 was set to GREEN Added comment: Multiple families reported. Progressive disorder characterised by cerebral and cerebellar atrophy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||