Activity
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15 actions
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| Fetal anomalies v6.120 | COL25A1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COL25A1. Tag Q3_25_NHS_review was removed from gene: COL25A1. |
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| Fetal anomalies v6.120 | COL25A1 | Achchuthan Shanmugasundram edited their review of gene: COL25A1: 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 | COL25A1 |
Arina Puzriakova Source Expert Review Green was added to COL25A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.39 | COL25A1 | Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.38 | COL25A1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COL25A1. Tag Q3_25_NHS_review tag was added to gene: COL25A1. |
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| Fetal anomalies v6.29 | COL25A1 | Arina Puzriakova reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | COL25A1 | Sarah Graham commented on gene: COL25A1: 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 | COL25A1 | Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | COL25A1 |
Arina Puzriakova Source Expert Review Amber was added to COL25A1. Added phenotypes Arthrogryposis multiplex congenita for gene: COL25A1 Publications for gene: COL25A1 were updated from 26437029; 35077597 to 26437029; 40158061; 35077597 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.178 | COL25A1 | Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | COL25A1 | Achchuthan Shanmugasundram commented on gene: COL25A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | COL25A1 | Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | COL25A1 |
Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1. Source Expert Review Red was added to COL25A1. Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1 Publications for gene: COL25A1 were updated from to 26437029; 35077597 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | COL25A1 | Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL25A1 |
Rebecca Foulger gene: COL25A1 was added gene: COL25A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 |
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