| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_Isolated v1.21 | SEZ6 | Alison Yeung Marked gene: SEZ6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.21 | SEZ6 | Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.21 | SEZ6 | Alison Yeung Classified gene: SEZ6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.21 | SEZ6 | Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.19 | SEZ6 |
Paul De Fazio gene: SEZ6 was added gene: SEZ6 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEZ6 were set to 34135477 Phenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Review for gene: SEZ6 was set to RED gene: SEZ6 was marked as current diagnostic Added comment: Homozygous missense variant p.(Val698Ile) identified in 4 affected individuals from a single consanguineous Pakistani family by WES. 5 other genotyped unaffected individuals were heterozygous or homozygous wild-type. Variant is in gnomad (36 hets, 0 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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