Pigmentary skin disordersGene: ABCD4
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: ABCD4; 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.
Source London North GLH was added to ABCD4.
gene: ABCD4 was added gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect