Activity
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| Fetal anomalies v6.152 | PPP1R12A | Arina Puzriakova Added phenotypes Genitourinary and/or brain malformation syndrome, OMIM:618820 for gene: PPP1R12A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | PPP1R12A | Arina Puzriakova commented on gene: PPP1R12A: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | PPP1R12A | Arina Puzriakova commented on gene: PPP1R12A: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | PPP1R12A | Arina Puzriakova reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39252126, 37272772, 39257322, 40770999; Phenotypes: Genitourinary and/or brain malformation syndrome, OMIM:618820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | PPP1R12A |
Arina Puzriakova Source Expert Review Green was added to PPP1R12A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v4.36 | PPP1R12A | Achchuthan Shanmugasundram commented on gene: PPP1R12A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PPP1R12A | Natalie Bibb reviewed gene: PPP1R12A: Rating: RED; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: holoprosencephaly, disorder of sex development, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PPP1R12A |
Achchuthan Shanmugasundram gene: PPP1R12A was added gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red 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 holoprosencephaly; disorder of sex development; Intellectual disability |
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