Activity
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12 actions
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| Fetal anomalies v6.121 | IFT27 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: IFT27. Tag Q3_25_NHS_review was removed from gene: IFT27. |
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| Fetal anomalies v6.120 | IFT27 | Achchuthan Shanmugasundram edited their review of gene: IFT27: 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 | IFT27 |
Arina Puzriakova Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.52 | IFT27 | Arina Puzriakova Phenotypes for gene: IFT27 were changed from Bardet-Biedl syndrome 19, OMIM:615996; Bardet-Biedl syndrome 19 to Bardet-Biedl syndrome 19, OMIM:615996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.51 | IFT27 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: IFT27. Tag Q3_25_NHS_review tag was added to gene: IFT27. |
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| Fetal anomalies v6.29 | IFT27 | Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | IFT27 | Sahar Mansour commented on gene: IFT27: 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 | IFT27 | Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | IFT27 |
Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 19 for gene: IFT27 Publications for gene: IFT27 were updated from 25443296; 24488770; 26763875; 30761183 to 25443296; 37239474; 24488770; 30761183; 26763875; 2970430 |
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| Fetal anomalies v4.36 | IFT27 | Achchuthan Shanmugasundram commented on gene: IFT27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | IFT27 | Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | IFT27 |
Achchuthan Shanmugasundram gene: IFT27 was added gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996 |
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