Rare genetic inflammatory skin disorders
Gene: ABCC6
Green in South Thames word document - ?PXE fitting for ISD.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PSEUDOXANTHOMA ELASTICUM; PXE
Publications
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ABCC6; 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: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Added phenotypes PSEUDOXANTHOMA ELASTICUM; PXE for gene: ABCC6 Publications for gene ABCC6 were changed from to 10835642
gene: ABCC6 was added gene: ABCC6 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal