Activity
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15 actions
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| Fetal anomalies v5.78 | MDFIC |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MDFIC. Tag Q2_24_promote_green was removed from gene: MDFIC. |
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| Fetal anomalies v5.78 | MDFIC | Achchuthan Shanmugasundram commented on gene: MDFIC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | MDFIC |
Achchuthan Shanmugasundram Source Expert Review Green was added to MDFIC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | MDFIC | Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MDFIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | MDFIC | Achchuthan Shanmugasundram commented on gene: MDFIC: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | MDFIC | Sahar Mansour reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35235341; Phenotypes: Lymphatic malformation 12, MIM#620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | MDFIC | Achchuthan Shanmugasundram Source NHS GMS was added to MDFIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.20 | MDFIC | Achchuthan Shanmugasundram Classified gene: MDFIC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.20 | MDFIC | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.20 | MDFIC | Achchuthan Shanmugasundram Gene: mdfic has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.19 | MDFIC | Achchuthan Shanmugasundram Phenotypes for gene: MDFIC were changed from conducting lymphatic anomaly with lymphedema to Lymphatic malformation 12, OMIM:620014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.18 | MDFIC | Achchuthan Shanmugasundram Publications for gene: MDFIC were set to PMID: 35235341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.17 | MDFIC | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MDFIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.17 | MDFIC | Achchuthan Shanmugasundram reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.1 | MDFIC |
Dmitrijs Rots gene: MDFIC was added gene: MDFIC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to PMID: 35235341 Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema Review for gene: MDFIC was set to GREEN Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating. Sources: Literature |
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