Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.51 | MITF |
Ida Ertmanska changed review comment from: PMID: 32728090 Thongpradit et al., 2020 Identified a homozygous c.1022G>A: p.Arg341His variant of MITF, which co-segregated with non-syndromic hearing loss in five affected children of a consanguineous hearing couple.; to: PMID: 30117279 Rauschendorf et al., 2019 Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A. Report of a 6 month old Argentinian boy, parents were siblings. Proband homozygous for intronic MITF c.33+5G>C variant, which co-segregated with less severe features in heterozygous family members. The proband presented with congenital bilateral deafness, hair and skin depigmentation, and iris pigmentation abnormalities. Variant was previously reported in heterozygous state in a patient with Waardenburg syndrome in PMID: 21373256 Haddad et al., 2011. PMID: 32728090 Thongpradit et al., 2020 Identified a homozygous c.1022G>A: p.Arg341His variant of MITF, which co-segregated with non-syndromic hearing loss in five affected children of a consanguineous hearing couple. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.51 | MITF | Ida Ertmanska edited their review of gene: MITF: Changed publications to: 30117279, 32728090; Changed phenotypes to: hearing loss, autosomal recessive, MONDO:0019588, Waardenburg syndrome, type 2A, OMIM:193510, COMMAD syndrome, OMIM:617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.51 | MITF | Ida Ertmanska reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 32728090; Phenotypes: hearing loss, autosomal recessive, MONDO:0019588; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.8 | MITF | Ellen McDonagh commented on gene: MITF: There is evidence to suggest there is reduced penetrance for this gene-disease association (PMID: 26100139). Due to feedback from Rowenna Roberts at GOSH, this gene has therefore been denoted as having incomplete pentrance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.8 | MITF | Ellen McDonagh Publications for gene: MITF were set to 10578055; 10587587; 10760582; 10851256; 10942418; 11331755; 11929831; 11929848; 11930005; 12032083; 12086670; 12093801; 12235125; 12668617; 13985019; 15254223; 15623583; 15716956; 16001072; 16140982; 16998588; 17182868; 18316599; 18510545; 19188590; 22012259; 22080950; 26168401; 666627; 7874158; 7874167; 7874168; 8069297; 8578601; 8589691; 8659547; 8782819; 9158138; 9499424; 9500554; 9546825; 9677380; 9856573; 27889061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.7 | MITF |
Ellen McDonagh Source Expert was removed from MITF. Penetrance for gene MITF was set from to Complete |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | MITF | Ellen McDonagh Tag watchlist was removed from gene: MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss | MITF | Lampros Mavrogiannis reviewed MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||