Pigmentary skin disordersGene: WRAP53
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3
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: WRAP53; 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 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53 Publications for gene WRAP53 were changed from to 21205863
Source London North GLH was added to WRAP53.
gene: WRAP53 was added gene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita