Pigmentary skin disordersGene: TERC
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1
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: TERC; 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 DOMINANT 1; DKCA1 for gene: TERC Publications for gene TERC were changed from to 11574891
Source London North GLH was added to TERC.
gene: TERC was added gene: TERC was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita