Pigmentary skin disordersGene: SLC45A2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
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: SLC45A2; 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 OCA4; ALBINISM, OCULOCUTANEOUS, TYPE IV for gene: SLC45A2 Publications for gene SLC45A2 were changed from to 14722913
Source London North GLH was added to SLC45A2.
gene: SLC45A2 was added gene: SLC45A2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism; Predisposition to melanoma