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Intellectual disability

Gene: PPP1R12A

Amber List (moderate evidence)

PPP1R12A (protein phosphatase 1 regulatory subunit 12A)
EnsemblGeneIds (GRCh38): ENSG00000058272
EnsemblGeneIds (GRCh37): ENSG00000058272
OMIM: 602021, Gene2Phenotype
PPP1R12A is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - DD reported in at least 7 unrelated patients with PPP1R12A variants.
Created: 26 Aug 2020, 2:20 p.m. | Last Modified: 26 Aug 2020, 2:20 p.m.
Panel Version: 3.266
Associated with phenotype in OMIM, and a probable gene for PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations in G2P.

PMID: 31883643 (2020) - Screening cohorts of patients with holoprosencephaly and patients with disorders of sex development revealed 12 unrelated individuals with de novo LoF variants in the PPP1R12A gene. Variants were associated with a broad spectrum of manifestations, and a clear genotype-phenotype correlation was not observed - most commonly presentation included either malformations of the brain or the genitourinary tract (two individuals exhibited both brain and genitourinary anomalies). 7/12 individuals exhibited developmental delay, which warrants inclusion on this panel.
Created: 26 Aug 2020, 2:16 p.m. | Last Modified: 26 Aug 2020, 2:18 p.m.
Panel Version: 3.265

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Genitourinary and/or/brain malformation syndrome, 618820

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

12 individuals reported.
Sources: Expert list
Created: 13 Feb 2020, 9:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; holoprosencephaly; disorder of sex development

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Genitourinary and/or/brain malformation syndrome, 618820
Tags
for-review
OMIM
602021
Clinvar variants
Variants in PPP1R12A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome, 618820

26 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).

26 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PPP1R12A.

13 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PPP1R12A was added gene: PPP1R12A was added to Intellectual disability. Sources: Expert list 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 Intellectual disability; holoprosencephaly; disorder of sex development Review for gene: PPP1R12A was set to GREEN gene: PPP1R12A was marked as current diagnostic