| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital nystagmus v0.168 | MITF | Zornitza Stark Marked gene: MITF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.168 | MITF | Zornitza Stark Gene: mitf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.168 | MITF | Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 to Tietz albinism-deafness syndrome 103500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.167 | MITF | Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.166 | MITF | Zornitza Stark reviewed gene: MITF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tietz albinism-deafness syndrome 103500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | MITF | Zornitza Stark Added phenotypes Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 for gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.0 | MITF |
Zornitza Stark gene: MITF was added gene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MITF were set to Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 |
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