Monogenic diabetes

Gene: PPP1R3A

No list

PPP1R3A (protein phosphatase 1 regulatory subunit 3A)
EnsemblGeneIds (GRCh38): ENSG00000154415
EnsemblGeneIds (GRCh37): ENSG00000154415
OMIM: 600917, Gene2Phenotype
PPP1R3A is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
Phenotypes
  • Insulin resistance, severe, digenic
OMIM
600917
Clinvar variants
Variants in PPP1R3A
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to PPP1R3A. Rating Changed from Red List (low evidence) to No List (delete)

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PPP1R3A was added gene: PPP1R3A was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: PPP1R3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPP1R3A were set to Insulin resistance, severe, digenic