Malformations of cortical development
Gene: PPP1R12AThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least 5 unrelated cases reported with brain malformations associated with PPP1R12A variants.
PPP1R12A has been added to this panel following discussion with the clinical team.Created: 26 Aug 2020, 3:08 p.m. | Last Modified: 26 Aug 2020, 3:08 p.m.
Panel Version: 2.11
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). 5/12 individuals presented structural CNS anomalies; however, the phenotype was variable and included dysgenesis of the corpus callosum, polymicrogyria, leukomalacia, and acrania.
Sources: LiteratureCreated: 26 Aug 2020, 3:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Genitourinary and/or/brain malformation syndrome, 618820
Publications
Phenotypes for gene: PPP1R12A were changed from Genitourinary and/or/brain malformation syndrome, 618820 to Genitourinary and/or/brain malformation syndrome, OMIM:618820
Tag for-review was removed from gene: PPP1R12A.
Source Expert Review Green was added to PPP1R12A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
gene: PPP1R12A was added gene: PPP1R12A was added to Malformations of cortical development. Sources: Literature for-review tags were added to gene: PPP1R12A. Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1R12A were set to 31883643 Phenotypes for gene: PPP1R12A were set to Genitourinary and/or/brain malformation syndrome, 618820 Review for gene: PPP1R12A was set to GREEN