Pigmentary skin disordersGene: DKC1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
DYSKERATOSIS CONGENITA, X-LINKED; DKCX
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: DKC1; 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 DKCX; DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1 Publications for gene DKC1 were changed from to 9590285
Source London North GLH was added to DKC1.
gene: DKC1 was added gene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita