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| Monogenic hearing loss v2.63 | SPATC1L | Zornitza Stark edited their review of gene: SPATC1L: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.63 | SPATC1L | Eleanor Williams Classified gene: SPATC1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.63 | SPATC1L | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber. 3 cases reported but only one with segregation data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.63 | SPATC1L | Eleanor Williams Gene: spatc1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.62 | SPATC1L | Eleanor Williams Added comment: Comment on mode of inheritance: I am not sure from the publication about the mode of inheritance. I read it that each family had one variant (no compound hets) and therefore the mode of inheritance would be mono-allelic. However, leaving as both monallelic and biallelic for now due to expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.62 | SPATC1L | Eleanor Williams Mode of inheritance for gene: SPATC1L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.61 | SPATC1L | Eleanor Williams reviewed gene: SPATC1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30177775; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SPATC1L |
Zornitza Stark gene: SPATC1L was added gene: SPATC1L was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPATC1L were set to 30177775 Phenotypes for gene: SPATC1L were set to Deafness Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of inheritance described, some functional data. Sources: Expert list |
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