Severe hypertriglyceridaemia
Gene: GPIHBP1EnsemblGeneIds (GRCh38): ENSG00000277494
EnsemblGeneIds (GRCh37): ENSG00000182851
OMIM: 612757, Gene2Phenotype
GPIHBP1 is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 10 variants reportedCreated: 4 May 2017, 3:01 p.m.
steve Humphries (UCL)
RareCreated: 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
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type 1D
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Hyperlipoproteinemia, type 1D, 615947
- OMIM
- 612757
- Clinvar variants
- Variants in GPIHBP1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Review added and all genes checked
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GPIHBP1 were set to Hyperlipoproteinemia, type 1D, 615947
Added New Source
Olivia Niblock (Genomics England Curator)GPIHBP1 was added to Severe hypertriglyceridaemiapanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)GPIHBP1 was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)GPIHBP1 was created by ellenmcdonagh