Activity
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| Fetal anomalies v6.152 | NSD2 | Arina Puzriakova Added phenotypes Rauch-Steindl syndrome OMIM:619695 for gene: NSD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.149 | NSD2 | Arina Puzriakova commented on gene: NSD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | NSD2 | Arina Puzriakova commented on gene: NSD2: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | NSD2 | Arina Puzriakova reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36189577, 33276791, 30345613, 31171569, 40690504, 37351323, 38353053, 33941880; Phenotypes: Rauch-Steindl syndrome OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.143 | NSD2 |
Arina Puzriakova Source Expert Review Green was added to NSD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.36 | NSD2 | Achchuthan Shanmugasundram commented on gene: NSD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NSD2 | Lyn Chitty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31171569, 30345613; Phenotypes: Rauch-Steindl syndrome, OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | NSD2 |
Achchuthan Shanmugasundram gene: NSD2 was added gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSD2 were set to 31171569; 30345613 Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695 |
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