Holoprosencephaly

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)

I don't know

Comment on list classification: Rating Amber, awaiting further publications/clinical evidence as currently only two cases reported (added to watchlist).
Created: 26 Aug 2020, 2:32 p.m. | Last Modified: 26 Aug 2020, 2:32 p.m.
Panel Version: 2.6
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). Two patients exhibited holoprosencephaly (semilobar and middle interhemispheric variant of holoprosencephaly, respectively).
Created: 26 Aug 2020, 2:29 p.m. | Last Modified: 26 Aug 2020, 2:29 p.m.
Panel Version: 2.5

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: 24 Aug 2020, 9:23 a.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
watchlist
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

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: PPP1R12A.

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).

24 Aug 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 Holoprosencephaly. 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