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Fetal anomalies

Gene: PPP1R12A

Red List (low evidence)
PPP1R12A (protein phosphatase 1 regulatory subunit 12A)
EnsemblGeneIds (GRCh38): ENSG00000058272
EnsemblGeneIds (GRCh37): ENSG00000058272
OMIM: 602021, Gene2Phenotype
PPP1R12A is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Bibb (C&S GLH)

Red List (low evidence)

PMID:31883643 - 2 independent ongoing NGS projects identified 12 individuals with de novo loss-of-function (LoF) variants in PPP1R12A, congenital anomalies identified included midline brain malformations (5/12) including 3 detected prenatally, urogenital anomalies (9/12), and a combination of both phenotypes (/12) also observed omphalocele, jejunal, and ileal atresia with aberrant mesenteric blood supply, and syndactyly. Supp data: 12 week gestation fetus showed acrania, anencephaly and ompholocele on 11 week scan. Anotherunrelated fetus -ultrasound and MRI showed agenesis of the corpus callosum and colpocephaly as well as pyelectasis and intrauterine growth restriction. Another unrelated patient showed fetal ultrasound, at 19 weeks of gestation, to have encephalocele at the posterior parietal region and colpocephaly. A further patient showed discordance between NIPT sex and phenotypic sex on USS. Green evidence of fetal phenotype in multiple unrelated patients in multicentre study. Red - not appropriate for indications for the panel.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
holoprosencephaly; disorder of sex development; Intellectual disability

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • holoprosencephaly
  • disorder of sex development
  • Intellectual disability
OMIM
602021
Clinvar variants
Variants in PPP1R12A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP1R12A was added gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability