Differences in sex development

Gene: PPP1R12A

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 1:33 p.m. | Last Modified: 3 Mar 2022, 1:33 p.m.

Panel Version: 2.57

Green List (high evidence)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least 7 unrelated cases with significant genitourinary malformations.

Created: 26 Aug 2020, 2:49 p.m. | Last Modified: 26 Aug 2020, 2:49 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). Out of the 12 patients, 4 were XY females and 3 were XY males with significant anomalies.
Sources: Literature

Created: 26 Aug 2020, 2:44 p.m.

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

Phenotypes
Genitourinary and/or/brain malformation syndrome, 618820

Publications

• 31883643