Hypophosphataemia or rickets
Gene: ENPP1EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 11:44 a.m.
ENPP1 is a green gene on the Skeletal dysplasia panel (Version 1.129).Created: 30 Nov 2018, 3:05 p.m.
Comment when marking as ready: Both OMIM and Gene2Phenotype confirm that ENPP1 is associated with autosomal recessive hypophosphataemic rickets (ARHR). One study (PMID: 20137773) describes 5 individuals with ARHR from 4 unrelated families. The study found 3 different ENPP1 variants. Another study (PMID: 20137772) reported on two brothers with ARHR who have homozygous ENPP1 variant.Created: 28 Nov 2018, 2:35 p.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Phenotypes
-
- Hypophosphatemic rickets, autosomal recessive, 2 (613312)
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised arterial calcification in infancy
- Ichthyosis and erythrokeratoderma
- Multi-organ autoimmune diabetes
- Fetal anomalies
- Skeletal dysplasia
- Pseudoxanthoma elasticum
- Hypophosphataemia or rickets
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment when marking as ready:
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: enpp1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ENPP1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ENPP1 was added gene: ENPP1 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2 (613312)