Pigmentary skin disordersGene: ABCD4
Single case in listed paper. Amber unless other cases available.
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Progressive hyperpigmentation due to VitB12 metabolism defect
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 Expert Review Amber was added to ABCD4. Added phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4 Publications for gene ABCD4 were changed from to 25234635 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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