Activity
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| Fetal anomalies v4.192 | EFEMP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EFEMP2. Tag Q3_24_NHS_review was removed from gene: EFEMP2. |
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| Fetal anomalies v4.192 | EFEMP2 | Achchuthan Shanmugasundram edited their review of gene: EFEMP2: 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 | EFEMP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.53 | EFEMP2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EFEMP2. Tag Q3_24_NHS_review tag was added to gene: EFEMP2. |
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| Fetal anomalies v4.36 | EFEMP2 | Achchuthan Shanmugasundram commented on gene: EFEMP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | EFEMP2 | Lyn Chitty reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19664000, 23532871, 31548410, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | EFEMP2 |
Achchuthan Shanmugasundram gene: EFEMP2 was added gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196 Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437 |
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