Insulin resistance (including lipodystrophy)
Gene: PPP1R3A
PPP1R3A (protein phosphatase 1 regulatory subunit 3A)
EnsemblGeneIds (GRCh38): ENSG00000154415
EnsemblGeneIds (GRCh37): ENSG00000154415
OMIM: 600917, Gene2Phenotype
PPP1R3A is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000154415
EnsemblGeneIds (GRCh37): ENSG00000154415
OMIM: 600917, Gene2Phenotype
PPP1R3A is in 2 panels
3 reviews
David Savage (IMS MRL, Uni. Cambridge)
Robert Semple (University of Cambridge)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotype does not appear to be relevant to this panel as it does not include Acanthosis nigricans, does not mention age of onset nor obesity statusCreated: 11 Aug 2016, 12:07 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Insulin resistance, severe, digenic 125853
- OMIM
- 600917
- Clinvar variants
- Variants in PPP1R3A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
12 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
11 Aug 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).
11 Aug 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PPP1R3A were set to Insulin resistance, severe, digenic 125853
11 Aug 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PPP1R3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PPP1R3A was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen