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| Arthrogryposis v5.15 | KCNK3 | Sarah Leigh Tag Q4_22_promote_green was removed from gene: KCNK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.15 | KCNK3 | Sarah Leigh reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v5.14 | KCNK3 |
Sarah Leigh Source NHS GMS was added to KCNK3. Source Expert Review Green was added to KCNK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Arthrogryposis v4.2 | KCNK3 |
Arina Puzriakova changed review comment from: Comment on list classification: Given the number of unrelated cases with a comparable phenotype, all shown to have variants that cluster near the X-gate and cause increased channel activation, this gene should be promoted to Green status at the next GMS panel update. The overall phenotype is likely most compatible with the Paediatric disorders super panel, and addition to the ID panel will ensure this genes' inclusion.; to: Comment on list classification: Given the number of unrelated cases with a comparable phenotype (including arthrogryposis/flexion contractures/foot deformities), all shown to have variants that cluster near the X-gate and cause increased channel activation, this gene should be promoted to Green status at the next GMS panel update. |
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| Arthrogryposis v4.2 | KCNK3 | Arina Puzriakova Entity copied from Intellectual disability v4.17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v4.2 | KCNK3 |
Arina Puzriakova gene: KCNK3 was added gene: KCNK3 was added to Arthrogryposis. Sources: Literature,Expert Review Amber Q4_22_promote_green tags were added to gene: KCNK3. Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNK3 were set to 36195757 Phenotypes for gene: KCNK3 were set to Developmental disorder with sleep apnea Mode of pathogenicity for gene: KCNK3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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