Activity
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| Fetal anomalies v4.192 | ANGPT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2. Tag Q3_24_NHS_review was removed from gene: ANGPT2. |
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| Fetal anomalies v4.192 | ANGPT2 | Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | ANGPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.39 | ANGPT2 | Achchuthan Shanmugasundram Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.38 | ANGPT2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ANGPT2. Tag Q3_24_NHS_review tag was added to gene: ANGPT2. |
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| Fetal anomalies v4.36 | ANGPT2 | Achchuthan Shanmugasundram commented on gene: ANGPT2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | ANGPT2 | Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32908006, 34876502; Phenotypes: Hydrops fetalis, MONDO:0015193, Lymphatic malformation-10, MIM#619369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | ANGPT2 |
Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2. Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2 |
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| Fetal anomalies v4.24 | ANGPT2 | Sarah Leigh Entity copied from Fetal hydrops v1.67 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.24 | ANGPT2 |
Sarah Leigh gene: ANGPT2 was added gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANGPT2 were set to 32908006; 34876502 Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 |
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