Activity
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8 actions
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| Fetal anomalies v4.193 | C2orf69 | Arina Puzriakova Tag gene-checked tag was added to gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | C2orf69 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69. Tag Q3_24_NHS_review was removed from gene: C2orf69. |
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| Fetal anomalies v4.192 | C2orf69 | Achchuthan Shanmugasundram edited their review of gene: C2orf69: 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 v4.191 | C2orf69 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.46 | C2orf69 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C2orf69. Tag Q3_24_NHS_review tag was added to gene: C2orf69. |
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| Fetal anomalies v4.36 | C2orf69 | Achchuthan Shanmugasundram commented on gene: C2orf69 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | C2orf69 | Esther Kinning reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: 33945503, 34038740; Phenotypes: Combined oxidative phosphorylation deficiency 53, OMIM:619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | C2orf69 |
Achchuthan Shanmugasundram gene: C2orf69 was added gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 33945503; 34038740 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423 |
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