Activity
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| Fetal anomalies v6.120 | CTGF |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CTGF. Tag Q3_25_NHS_review was removed from gene: CTGF. |
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| Fetal anomalies v6.120 | CTGF | Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | CTGF |
Arina Puzriakova Source Expert Review Green was added to CTGF. Source NHS GMS was added to CTGF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.85 | CTGF | Arina Puzriakova Phenotypes for gene: CTGF were changed from kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.35 | CTGF | Arina Puzriakova Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.34 | CTGF |
Arina Puzriakova Tag new-gene-name tag was added to gene: CTGF. Tag Q3_25_promote_green tag was added to gene: CTGF. Tag Q3_25_NHS_review tag was added to gene: CTGF. |
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| Fetal anomalies v6.29 | CTGF | Arina Puzriakova reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | CTGF | Elizabeth Scotchman commented on gene: CTGF: 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 | CTGF | Elizabeth Scotchman reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 39506047, 39414788, 12736220; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | CTGF |
Arina Puzriakova gene: CTGF was added gene: CTGF was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTGF were set to 39506047; 12736220; 39414788 Phenotypes for gene: CTGF were set to Kyphomelic dysplasia |
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