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| Mendeliome v1.2860 | SPATC1L | Zornitza Stark Phenotypes for gene: SPATC1L were changed from Deafness to Hearing loss disorder, MONDO:0005365 SPATC1L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2859 | SPATC1L | Zornitza Stark edited their review of gene: SPATC1L: Changed phenotypes: Hearing loss disorder, MONDO:0005365 SPATC1L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.535 | SPATC1L | Zornitza Stark Marked gene: SPATC1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.535 | SPATC1L | Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.535 | SPATC1L | Zornitza Stark Classified gene: SPATC1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.535 | SPATC1L | Zornitza Stark Gene: spatc1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.534 | SPATC1L |
Zornitza Stark gene: SPATC1L was added gene: SPATC1L was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: SPATC1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATC1L were set to 30177775 Phenotypes for gene: SPATC1L were set to Deafness Review for gene: SPATC1L was set to AMBER Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of hearing loss described, some functional data. Sources: Expert list |
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