Pigmentary skin disordersGene: OCA2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
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: OCA2; 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 OCA2; ALBINISM, OCULOCUTANEOUS, TYPE II for gene: OCA2 Publications for gene OCA2 were changed from to 8302318
Source London North GLH was added to OCA2.
gene: OCA2 was added gene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Oculocutaneous albinism