Activity
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17 actions
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| Fetal anomalies v6.121 | ITGAV |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ITGAV. Tag Q3_25_NHS_review was removed from gene: ITGAV. |
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| Fetal anomalies v6.120 | ITGAV | Achchuthan Shanmugasundram edited their review of gene: ITGAV: 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 | ITGAV |
Arina Puzriakova Source Expert Review Green was added to ITGAV. Source NHS GMS was added to ITGAV. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.117 | ITGAV | Eleanor Williams Phenotypes for gene: ITGAV were changed from Syndromic disease, MONDO:0002254 to syndromic disease, MONDO:0002254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.82 | ITGAV |
Arina Puzriakova changed review comment from: 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.; to: 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. Previously curated as Amber as only one family had fetal cases reported on; however as noted in Natalie Canham review, all affected individuals have brain anomalies which could be detected prenatally. Therefore this gene can be rated Green. |
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| Fetal anomalies v6.53 | ITGAV | Arina Puzriakova Phenotypes for gene: ITGAV were changed from syndromic disease, MONDO:0002254; Syndromic disease, MONDO:0002254 to Syndromic disease, MONDO:0002254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.52 | ITGAV |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ITGAV. Tag Q3_25_NHS_review tag was added to gene: ITGAV. |
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| Fetal anomalies v6.29 | ITGAV | Arina Puzriakova reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | ITGAV | Natalie Canham commented on gene: ITGAV: 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 | ITGAV | Natalie Canham reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: 39526957; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | ITGAV | Arina Puzriakova Added phenotypes Syndromic disease, MONDO:0002254 for gene: ITGAV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.10 | ITGAV | Achchuthan Shanmugasundram Classified gene: ITGAV as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.10 | ITGAV | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and functional data reported. Hence, this gene can be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.10 | ITGAV | Achchuthan Shanmugasundram Gene: itgav has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.9 | ITGAV | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39526957 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.9 | ITGAV | Achchuthan Shanmugasundram Publications for gene: ITGAV were set to 39526957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.8 | ITGAV |
Achchuthan Shanmugasundram gene: ITGAV was added gene: ITGAV was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGAV were set to 39526957 Phenotypes for gene: ITGAV were set to syndromic disease, MONDO:0002254 Review for gene: ITGAV was set to AMBER Added comment: PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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