Activity
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10 actions
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| Fetal anomalies v6.129 | DHRSX | Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.129 | DHRSX | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.120 | DHRSX |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHRSX. Tag Q3_25_NHS_review was removed from gene: DHRSX. |
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| Fetal anomalies v6.120 | DHRSX | Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | DHRSX |
Arina Puzriakova Source Expert Review Green was added to DHRSX. Source NHS GMS was added to DHRSX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.41 | DHRSX |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHRSX. Tag Q3_25_NHS_review tag was added to gene: DHRSX. |
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| Fetal anomalies v6.29 | DHRSX | Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | DHRSX | Elizabeth Scotchman commented on gene: DHRSX: 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 | DHRSX | Elizabeth Scotchman reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38821050; Phenotypes: Congenital disorder of glycosylation, type 1DD, OMIM:301133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | DHRSX |
Arina Puzriakova gene: DHRSX was added gene: DHRSX was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHRSX were set to 38821050 Phenotypes for gene: DHRSX were set to Congenital disorder of glycosylation, type 1DD, OMIM:301133 |
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