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| Monogenic hearing loss v2.138 | SCD5 | Eleanor Williams Classified gene: SCD5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.138 | SCD5 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to red. As outlined by the reviewer, one large Chinese family with autosomal dominant non syndromic hearing loss reported, in which a missense variant in the SCD5 gene (c.626G > C, p.W209S, NM_ 001037582) segregated perfectly cases with hearing loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.138 | SCD5 | Eleanor Williams Gene: scd5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.137 | SCD5 | Eleanor Williams Phenotypes for gene: SCD5 were changed from Deafness, autosomal dominant 79, MIM#619086 to Deafness, autosomal dominant 79 OMIM:619086; deafness, autosomal dominant 79 MONDO:0033668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.134 | SCD5 |
Zornitza Stark gene: SCD5 was added gene: SCD5 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: SCD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCD5 were set to 31972369 Phenotypes for gene: SCD5 were set to Deafness, autosomal dominant 79, MIM#619086 Review for gene: SCD5 was set to RED Added comment: Single 5-generation family reported with a missense variant segregating in 19 affected individuals. Variant is found at a low frequency in ExAC. Sources: Literature |
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