Pigmentary skin disordersGene: ENPP1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COLE DISEASE; COLED
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: ENPP1; 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.
Mode of inheritance for gene ENPP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes COLED; COLE DISEASE for gene: ENPP1 Publications for gene ENPP1 were changed from to 24075184
Source London North GLH was added to ENPP1.
gene: ENPP1 was added gene: ENPP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Cole disease