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| Malformations of cortical development v2.132 | PPP1R12A | Eleanor Williams Phenotypes for gene: PPP1R12A were changed from Genitourinary and/or/brain malformation syndrome, 618820 to Genitourinary and/or/brain malformation syndrome, OMIM:618820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | PPP1R12A | Eleanor Williams Tag for-review was removed from gene: PPP1R12A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | PPP1R12A | Sarah Leigh commented on gene: PPP1R12A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | PPP1R12A |
Eleanor Williams Source Expert Review Green was added to PPP1R12A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.11 | PPP1R12A | Arina Puzriakova Classified gene: PPP1R12A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.11 | PPP1R12A |
Arina Puzriakova Added comment: 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. |
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| Malformations of cortical development v2.11 | PPP1R12A | Arina Puzriakova Gene: ppp1r12a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.10 | PPP1R12A |
Arina Puzriakova 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 Added comment: 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: Literature |
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