Holoprosencephaly - NOT chromosomal
Gene: PPP1R12A
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
12 individuals reported.
Sources: Expert listCreated: 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
Phenotypes for gene: PPP1R12A were changed from Intellectual disability; holoprosencephaly; disorder of sex development to Genitourinary and/or/brain malformation syndrome, 618820
Tag watchlist tag was added to gene: PPP1R12A.
Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).
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