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Severe Paediatric Disorders v0.14 | MITF | Louise Daugherty Mode of inheritance for gene: MITF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | MITF | Louise Daugherty reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MITF | Louise Daugherty Publications for gene MITF were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MITF | Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MITF | Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MITF | Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MITF | Louise Daugherty Added phenotypes Waardenburg syndrome, type 2A, 193510; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome/ocular albinism, digenic, 103470; COMMAD syndrome, 617306 for gene: MITF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MITF | Louise Daugherty Source Next Generation Children Project was added to MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MITF |
Louise Daugherty Source Expert Review Green was added to MITF. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MITF |
Louise Daugherty gene: MITF was added gene: MITF was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MITF was set to |