Pigmentary skin disorders
Gene: ENPP1EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
COLE DISEASE; COLED
Publications
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cole disease
- COLED
- COLE DISEASE
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- DDG2P
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised arterial calcification in infancy
- Ichthyosis and erythrokeratoderma
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Skeletal dysplasia
- Fetal anomalies
- Pseudoxanthoma elasticum
- Hypophosphataemia or rickets
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
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
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ENPP1.
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