Activity
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10 actions
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| Paediatric disorders - additional genes v7.35 | GPKOW | Ida Ertmanska Tag gene-checked tag was added to gene: GPKOW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.33 | GPKOW | Ida Ertmanska Tag Q3_25_promote_green was removed from gene: GPKOW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.33 | GPKOW | Ida Ertmanska reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.32 | GPKOW |
Ida Ertmanska Source NHS GMS was added to GPKOW. Source Expert Review Green was added to GPKOW. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v7.5 | GPKOW | Arina Puzriakova Classified gene: GPKOW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.5 | GPKOW | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with a multisystemic disorder due to hypomorphic or possible dominant-negative variants in this gene (PMID: 28612833; 40221893). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.5 | GPKOW | Arina Puzriakova Gene: gpkow has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.4 | GPKOW |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: GPKOW. Tag Q3_25_promote_green tag was added to gene: GPKOW. |
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| Paediatric disorders - additional genes v7.4 | GPKOW | Arina Puzriakova Entity copied from Fetal anomalies v6.12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.4 | GPKOW |
Arina Puzriakova gene: GPKOW was added gene: GPKOW was added to Paediatric disorders - additional genes. Sources: Expert Review Amber,PAGE Additional Gene List Q2_25_ promote_green tags were added to gene: GPKOW. Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GPKOW were set to 28612833; 40221893 Phenotypes for gene: GPKOW were set to microcephaly with intrauterine growth restriction |
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