Hypophosphataemia or rickets
Gene: ENPP1As 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong: Comment when marking as ready:
Gene: enpp1 has been classified as Green List (High Evidence).
Publications for gene: ENPP1 were set to
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)