Activity
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18 actions
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| Fetal anomalies v6.121 | UNC13D |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: UNC13D. Tag Q3_25_NHS_review was removed from gene: UNC13D. |
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| Fetal anomalies v6.120 | UNC13D | Achchuthan Shanmugasundram edited their review of gene: UNC13D: 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 | UNC13D |
Arina Puzriakova Source Expert Review Green was added to UNC13D. Source NHS GMS was added to UNC13D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.79 | UNC13D | Arina Puzriakova Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898; Hemophagocytic lymphohistiocytosis, familial, 3 to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.78 | UNC13D |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: UNC13D. Tag Q3_25_NHS_review tag was added to gene: UNC13D. |
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| Fetal anomalies v6.29 | UNC13D | Arina Puzriakova edited their review of gene: UNC13D: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | UNC13D | Anna de Burca commented on gene: UNC13D: 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 | UNC13D | Anna de Burca reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562, 29262924, 21646258; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | UNC13D |
Arina Puzriakova Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 for gene: UNC13D Publications for gene: UNC13D were updated from 33082562; 33249554 to 21646258; 33249554; 29262924; 33082562 |
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| Fetal anomalies v4.169 | UNC13D | Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.168 | UNC13D | Achchuthan Shanmugasundram Phenotypes for gene: UNC13D were changed from Pancytopenia; ?Hydrops fetalis to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | UNC13D | Achchuthan Shanmugasundram commented on gene: UNC13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | UNC13D | Esther Kinning reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Familial Hemophagocytic Lymphohistiocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.963 | UNC13D | Arina Puzriakova Publications for gene: UNC13D were set to PMID: 33249554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.962 | UNC13D | Arina Puzriakova Classified gene: UNC13D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.962 | UNC13D | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.962 | UNC13D | Arina Puzriakova Gene: unc13d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.900 | UNC13D |
Rhiannon Mellis gene: UNC13D was added gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to PMID: 33249554 Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis Review for gene: UNC13D was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency Details of review: One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia. Sources: Literature, Expert Review |
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