Activity
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| Fetal anomalies v5.78 | KDELR2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDELR2. Tag Q1_25_ promote_green was removed from gene: KDELR2. |
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| Fetal anomalies v5.78 | KDELR2 | Achchuthan Shanmugasundram edited their review of gene: KDELR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | KDELR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDELR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | KDELR2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KDELR2. Tag Q1_25_ promote_green tag was added to gene: KDELR2. |
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| Fetal anomalies v5.16 | KDELR2 | Achchuthan Shanmugasundram commented on gene: KDELR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | KDELR2 | Natalie Chandler reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: Osteogenesis imperfecta, type XXI, MIM#619131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | KDELR2 |
Achchuthan Shanmugasundram gene: KDELR2 was added gene: KDELR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to 33053334 Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta, type XXI, OMIM:619131 |
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