Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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7 actions
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| Monogenic short stature v1.27 | RECQL4 | Ida Ertmanska reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | RECQL4 |
Ida Ertmanska Tag Q3_24_promote_green was removed from gene: RECQL4. Tag Q3_24_NHS_review was removed from gene: RECQL4. |
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| Monogenic short stature v1.26 | RECQL4 | Ida Ertmanska reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.25 | RECQL4 |
Ida Ertmanska Source Expert Review Green was added to RECQL4. Source NHS GMS was added to RECQL4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic short stature v1.1 | RECQL4 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RECQL4. Tag Q1_24_NHS_review was removed from gene: RECQL4. Tag Q3_24_promote_green tag was added to gene: RECQL4. Tag Q3_24_NHS_review tag was added to gene: RECQL4. |
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| Monogenic short stature v0.83 | RECQL4 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.83 | RECQL4 |
Arina Puzriakova gene: RECQL4 was added gene: RECQL4 was added to Monogenic short stature. Sources: Expert Review Amber,Literature Q1_24_promote_green, Q1_24_NHS_review tags were added to gene: RECQL4. Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 25966250; 29462647; 31406625; 34155702; 35086131; 35781852; 37228773; 38021400 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, OMIM:268400 Penetrance for gene: RECQL4 were set to Complete |
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