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Fetal anomalies

Gene: PPP1R12A

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
This review was added on behalf of Dr Tazeen Ashraf (GOSH): 37272772 Preterm infant with ambigious genitalia and neurological deficit - genitalia may have been noted on antenatal USS? 31883643 - gene intolerant to LOF. Several described patients in this paper had brain MRI abnormalities such as HPE and ACC which should be detectable on antenatal USS. 40770999 - Preterm neonate with type IIIb jejunal atresia, incomplete intestinal rotation, imperforate anus without rectal fistula, and vaginal atresia. Brain imaging revealed bilateral periventricular white matter echogenicity, and echocardiography identified a muscular ventricular septal defect. Brain abns and VSD should have been antenatally detectable. Gene is green on R27, cortical malformations and disorders of sexual development. LOF published as mechanism.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genitourinary and/or brain malformation syndrome, OMIM:618820

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.150

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 Green
  • NHS GMS
Phenotypes
  • disorder of sex development
  • holoprosencephaly
  • Intellectual disability
  • Genitourinary and/or brain malformation syndrome, OMIM:618820
OMIM
602021
Clinvar variants
Variants in PPP1R12A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Genitourinary and/or brain malformation syndrome, OMIM:618820 for gene: PPP1R12A

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to PPP1R12A. Rating Changed from Red List (low evidence) to Green List (high evidence)

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