Skeletal dysplasia
Gene: ENPP1
Abnormal mineralization gp of SD - at least 3 cases reported for each of the two OMIM classifications. Cole disease AD - het for recurrent cys variants (cys164Ser, cys 177tyr). Gene also associated with arterial calcification, generalized, of infancy, 1 208000.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cole disease 615522; Hypophosphatemic rickets, autosomal recessive, 2 613312
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ENPP1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 1:47 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 1 208000; Cole disease 615522; Hypophosphatemic rickets, autosomal recessive, 2 613312
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312; Cole disease 615522 for gene: ENPP1
Source NHS GMS was added to ENPP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for ENPP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for ENPP1 were set to Arterial calcification, generalized, of infancy, 1 208000; Cole disease 615522; Hypophosphatemic rickets, autosomal recessive, 2 613312
ENPP1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ENPP1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
ENPP1 was added to Unexplained skeletal dysplasiapanel. Sources:
ENPP1 was created by sleigh