Activity
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| Fetal anomalies v5.78 | RSPRY1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPRY1. Tag Q1_25_ promote_green was removed from gene: RSPRY1. |
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| Fetal anomalies v5.78 | RSPRY1 | Achchuthan Shanmugasundram edited their review of gene: RSPRY1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | RSPRY1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | RSPRY1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RSPRY1. Tag Q1_25_ promote_green tag was added to gene: RSPRY1. |
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| Fetal anomalies v5.54 | RSPRY1 | Achchuthan Shanmugasundram Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | RSPRY1 | Achchuthan Shanmugasundram commented on gene: RSPRY1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | RSPRY1 | Soo-Mi Park reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30063090, 38562122, 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM#616723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | RSPRY1 |
Achchuthan Shanmugasundram Source NHS GMS was added to RSPRY1. Added phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 for gene: RSPRY1 Publications for gene: RSPRY1 were updated from to 26365341; 38562122; 30063090 |
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| Fetal anomalies v0.9 | RSPRY1 | Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | RSPRY1 |
Rebecca Foulger gene: RSPRY1 was added gene: RSPRY1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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