Activity
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6 actions
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| Monogenic short stature v1.27 | RSPRY1 | Ida Ertmanska reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | RSPRY1 | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: RSPRY1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | RSPRY1 | Ida Ertmanska reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.25 | RSPRY1 |
Ida Ertmanska Source Expert Review Green was added to RSPRY1. Source NHS GMS was added to RSPRY1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic short stature v1.2 | RSPRY1 | Arina Puzriakova Entity copied from Intellectual disability v8.143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.2 | RSPRY1 |
Arina Puzriakova gene: RSPRY1 was added gene: RSPRY1 was added to Monogenic short stature. Sources: Expert Review Amber,Literature Q1_25_ promote_green tags were added to gene: RSPRY1. Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPRY1 were set to 26365341; 30063090; 38562122; 39940902 Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 |
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