Activity
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9 actions
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| Fetal anomalies v6.121 | SRPK3 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SRPK3. Tag Q3_25_NHS_review was removed from gene: SRPK3. |
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| Fetal anomalies v6.120 | SRPK3 | Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | SRPK3 |
Arina Puzriakova Source Expert Review Green was added to SRPK3. Source NHS GMS was added to SRPK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.76 | SRPK3 | Arina Puzriakova Phenotypes for gene: SRPK3 were changed from X-linked intellectual developmental disorder-114 to Intellectual developmental disorder, X-linked 114, OMIM:301134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.75 | SRPK3 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SRPK3. Tag Q3_25_NHS_review tag was added to gene: SRPK3. |
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| Fetal anomalies v6.29 | SRPK3 | Arina Puzriakova reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | SRPK3 | Sarah Graham commented on gene: SRPK3: 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 | SRPK3 | Sarah Graham reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39073169; Phenotypes: X-linked intellectual developmental disorder-114; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | SRPK3 |
Arina Puzriakova gene: SRPK3 was added gene: SRPK3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPK3 were set to 39073169 Phenotypes for gene: SRPK3 were set to X-linked intellectual developmental disorder-114 |
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