Pigmentary skin disordersGene: 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.
Created: 7 Feb 2019, 2:27 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MITF; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
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
Source London North GLH was added to MITF.
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