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| Pigmentary skin disorders v0.27 | MITF |
Catherine Snow Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes COMMAD, WAARDENBURG SYNDROME, TYPE 2A; WS2A; COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS for gene: MITF Publications for gene MITF were changed from to 27889061; 7874167 |
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| Pigmentary skin disorders v0.25 | MITF | Tom Cullup reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061, 7874167; Phenotypes: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, COMMAD, WAARDENBURG SYNDROME, TYPE 2A, WS2A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | MITF | Rebecca Foulger Source London North GLH was added to MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.7 | MITF | Rebecca Foulger commented on gene: MITF: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2A and WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, plus Green on the 'Hearing loss' panel with Waardenburg phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | MITF | Rebecca Foulger reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MITF were set to Waardenburg syndrome |
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