Severe hypertriglyceridaemiaGene: GPD1
Comment on list classification: Promoted from Red to Green after confirmation with the Genomics England clinical team. More than 5 families reported, and an expert Green review.
Created: 27 Jun 2018, 4:55 p.m.
Comment on publications: PMID: 22226083 A transversion in intron 3 in 10 individuals with transient infantile hypertriglyceridemia was reported, from 4 Israeli-Arab families. PMID: 24549054 a transversion and a missense (compound heterozygous) reported in a Caucasian female, one variant inherited from each patient.
Created: 29 Mar 2018, 2:41 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 2 variants reported
Created: 4 May 2017, 2:59 p.m.
Created: 4 May 2017, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: gpd1 has been classified as Green List (High Evidence).
Publications for GPD1 were set to 22226083; 24549054
Review added and all genes checked
This gene has been classified as Red List (Low Evidence).
GPD1 was created by oniblock
GPD1 was added to Severe hypertriglyceridaemiapanel. Sources: Radboud University Medical Center, Nijmegen