Familial hypercholesterolaemia
Gene: STAP1
STAP1 (signal transducing adaptor family member 1)
EnsemblGeneIds (GRCh38): ENSG00000035720
EnsemblGeneIds (GRCh37): ENSG00000035720
OMIM: 604298, Gene2Phenotype
STAP1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000035720
EnsemblGeneIds (GRCh37): ENSG00000035720
OMIM: 604298, Gene2Phenotype
STAP1 is in 1 panel
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Although limited evidence exists for this gene at present, reporting of variants within 100K project will help to ascertain whether or not it can actually be considered as the forth locus for FH as proposed in the quoted publications.Created: 30 Jun 2016, 9:20 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: 2 papers with multiple families, genetic evidence moderate, functional evidence absent.Created: 28 Jun 2016, 1:14 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- hypercholesterolemia
- OMIM
- 604298
- Clinvar variants
- Variants in STAP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
30 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
30 Jun 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for STAP1 were set to 25035151; 26036859; 25170087
29 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Jun 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Jun 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Mar 2016, Gel status: 0
Added New Source
David Bick (HudsonAlpha Institute for Biotechnology)STAP1 was added to Familial hypercholesterolaemiapanel. Sources: Literature
28 Mar 2016, Gel status: 0
Created
David Bick (HudsonAlpha Institute for Biotechnology)STAP1 was created by dbick