Activity
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7 actions
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| Fetal anomalies v5.78 | UFSP2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: UFSP2. Tag Q1_25_ promote_green was removed from gene: UFSP2. |
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| Fetal anomalies v5.78 | UFSP2 | Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | UFSP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to UFSP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | UFSP2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: UFSP2. Tag Q1_25_ promote_green tag was added to gene: UFSP2. |
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| Fetal anomalies v5.16 | UFSP2 | Achchuthan Shanmugasundram commented on gene: UFSP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | UFSP2 | Sarah Graham reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32755715, 33473208, 28892125, 26428751; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM#617974, Beukes Hip Dysplasia, MIM#142669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | UFSP2 |
Achchuthan Shanmugasundram gene: UFSP2 was added gene: UFSP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UFSP2 were set to 28892125; 32755715; 33473208; 26428751 Phenotypes for gene: UFSP2 were set to Spondyloepimetaphyseal dysplasia, Di Rocco type, OMIM:617974; ?Hip dysplasia, Beukes type, OMIM:142669 |
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