Activity
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9 actions
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| Fetal anomalies v6.121 | PAK2 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAK2. Tag Q3_25_NHS_review was removed from gene: PAK2. |
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| Fetal anomalies v6.120 | PAK2 | Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | PAK2 |
Arina Puzriakova Source Expert Review Green was added to PAK2. Source NHS GMS was added to PAK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.63 | PAK2 | Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.62 | PAK2 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAK2. Tag Q3_25_NHS_review tag was added to gene: PAK2. |
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| Fetal anomalies v6.29 | PAK2 | Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | PAK2 | Sarah Graham commented on gene: PAK2: 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 | PAK2 | Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | PAK2 |
Arina Puzriakova gene: PAK2 was added gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536 Phenotypes for gene: PAK2 were set to Knobloch syndrome 2 |
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