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Mendeliome

Gene: PPP1R3A

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family where digenic inheritance proposed, and other studies implicating SNPs.
Created: 19 Apr 2022, 1:18 a.m. | Last Modified: 19 Apr 2022, 1:18 a.m.
Panel Version: 0.13050

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Insulin resistance, severe, digenic 125853

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Insulin resistance, severe, digenic 125853
OMIM
600917
Clinvar variants
Variants in PPP1R3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r3a has been classified as Red List (Low Evidence).

19 Apr 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPP1R3A were changed from to Insulin resistance, severe, digenic 125853

19 Apr 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPP1R3A were set to

19 Apr 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPP1R3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp1r3a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPP1R3A was added gene: PPP1R3A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPP1R3A was set to Unknown