Pigmentary skin disorders

Gene: ENPP1

Green List (high evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
COLE DISEASE; COLED

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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.

History Filter Activity

12 Dec 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Catherine Snow (Genomics England)

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

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ENPP1.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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