Activity
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| Fetal anomalies v6.121 | PLAA |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLAA. Tag Q3_25_NHS_review was removed from gene: PLAA. |
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| Fetal anomalies v6.120 | PLAA | Achchuthan Shanmugasundram edited their review of gene: PLAA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | PLAA |
Arina Puzriakova Source Expert Review Green was added to PLAA. Source NHS GMS was added to PLAA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.67 | PLAA |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLAA. Tag Q3_25_NHS_review tag was added to gene: PLAA. |
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| Fetal anomalies v6.29 | PLAA | Arina Puzriakova reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PLAA | Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | PLAA | Stephanie Allen reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 38650658, 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PLAA |
Arina Puzriakova Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 for gene: PLAA Publications for gene: PLAA were updated from 28007986; 28413018; 31322726 to 31322726; 38650658; 28413018; 28007986 |
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| Fetal anomalies v4.150 | PLAA | Achchuthan Shanmugasundram Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.149 | PLAA | Achchuthan Shanmugasundram Publications for gene: PLAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PLAA | Achchuthan Shanmugasundram commented on gene: PLAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PLAA | Lyn Chitty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PLAA | Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PLAA |
Rebecca Foulger gene: PLAA was added gene: PLAA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
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