Pigmentary skin disordersGene: SLC24A5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6
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: SLC24A5; 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.
Added phenotypes OCA6; ALBINISM, OCULOCUTANEOUS, TYPE VI for gene: SLC24A5 Publications for gene SLC24A5 were changed from to 23364476
Source London North GLH was added to SLC24A5.
gene: SLC24A5 was added gene: SLC24A5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A5 were set to Oculocutaneous albinism; Predisposition to melanoma