Rare genetic inflammatory skin disorders
Gene: DCLRE1C
Single family in literature - amber.Created: 12 Dec 2019, 3:08 p.m. | Last Modified: 12 Dec 2019, 3:08 p.m.
Panel Version: 0.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Omenn syndrome
Publications
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: DCLRE1C; 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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to DCLRE1C. Added phenotypes Omenn syndrome for gene: DCLRE1C Publications for gene DCLRE1C were changed from to 15731174 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source London North GLH was added to DCLRE1C.
gene: DCLRE1C was added gene: DCLRE1C was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Omenn syndrome