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| Monogenic hearing loss v2.227 | COL4A6 | Eleanor Williams Tag for-review was removed from gene: COL4A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.227 | COL4A6 | Eleanor Williams Phenotypes for gene: COL4A6 were changed from #300914:?Deafness, X-linked 6; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) to Deafness, X-linked 6, OMIM:300914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.221 | COL4A6 | Eleanor Williams commented on gene: COL4A6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | COL4A6 |
Eleanor Williams Source Expert Review Amber was added to COL4A6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Monogenic hearing loss v2.21 | COL4A6 | Eleanor Williams Tag for-review tag was added to gene: COL4A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 | Eleanor Williams edited their review of gene: COL4A6: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 |
Eleanor Williams changed review comment from: Provisionally associated with ?Deafness, X-linked 6 #300914 (XLR) in OMIM. Only 1 family reported in PMID: 23714752 - Rost et al 2014 - a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss with a missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 in all affected family members. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. Pubmed search didn’t find any other cases.; to: Provisionally associated with ?Deafness, X-linked 6 #300914 (XLR) in OMIM. Only 1 family reported in PMID: 23714752 - Rost et al 2014 - a Hungarian three-generation family with X-linked nonsyndromic congenital hearing loss with a missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6 in all affected family members. In situ hybridization and immunostaining demonstrated expression of the COL4A6 homologs in the otic vesicle of the zebrafish and in the murine inner ear, supporting its role in normal ear development and function. Pubmed search didn’t find any other cases. |
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| Monogenic hearing loss v2.4 | COL4A6 | Eleanor Williams commented on gene: COL4A6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | COL4A6 | Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||