DDG2P
Gene: PPP1R3F

PPP1R3F (protein phosphatase 1 regulatory subunit 3F)
EnsemblGeneIds (GRCh38): ENSG00000049769
EnsemblGeneIds (GRCh37): ENSG00000049769
PPP1R3F is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PPP1R3F-related neurodevelopmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:37531237). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03919.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
PPP1R3F-related neurodevelopmental disorder

Publications

37531237

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

PPP1R3F-related neurodevelopmental disorder

Clinvar variants

Variants in PPP1R3F

Penetrance

None

Publications

37531237

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP1R3F was added gene: PPP1R3F was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PPP1R3F were set to 37531237 Phenotypes for gene: PPP1R3F were set to PPP1R3F-related neurodevelopmental disorder

DDG2P Gene: PPP1R3F