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| Deafness_Isolated v1.20 | ADAMTS1 | Zornitza Stark Marked gene: ADAMTS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.20 | ADAMTS1 | Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.20 | ADAMTS1 | Zornitza Stark Classified gene: ADAMTS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.20 | ADAMTS1 | Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.19 | ADAMTS1 |
Paul De Fazio gene: ADAMTS1 was added gene: ADAMTS1 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS1 were set to 34135477 Phenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Review for gene: ADAMTS1 was set to RED gene: ADAMTS1 was marked as current diagnostic Added comment: Homozygous missense variant p.(Ser135Ala) identified in 3 affected siblings from a single consanguineous Pakistani family by WES. A fourth unaffected sibling was homozygous wild type. Variant is in gnomad (26 hets, 1 hom). RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only). Sources: Literature |
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