Activity
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| Fetal anomalies v6.29 | GATA5 | Arina Puzriakova reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | GATA5 | Natalie Chandler commented on gene: GATA5: 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 | GATA5 | Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | GATA5 |
Arina Puzriakova Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5 Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562 |
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| Fetal anomalies v4.36 | GATA5 | Achchuthan Shanmugasundram commented on gene: GATA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GATA5 | Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | GATA5 |
Achchuthan Shanmugasundram gene: GATA5 was added gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATA5 were set to 33082562 Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912 |
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