Activity
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| Deafness and congenital structural abnormalities v1.36 | SIX5 | Arina Puzriakova Classified gene: SIX5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.36 | SIX5 |
Arina Puzriakova Added comment: Comment on list classification: This gene-disease association has been rated as 'DISPUTED' by ClinGen (https://search.clinicalgenome.org/CCID:006145) Multiple families reported but reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). Two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668) which are typical of branchio-oto-renal syndrome. As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, downgraded this gene from Amber to Red. |
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| Deafness and congenital structural abnormalities v1.36 | SIX5 | Arina Puzriakova Gene: six5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.35 | SIX5 | Arina Puzriakova Phenotypes for gene: SIX5 were changed from Bilateral Microtia; Branchiootorenal syndrome 2 to Branchiootorenal syndrome 2, OMIM:610896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities | SIX5 | Muriel Holder reviewed SIX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities | SIX5 | Ellen McDonagh classified SIX5 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||