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Severe Paediatric Disorders v1.31 | KCNJ2 | Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'MONOALLELIC' as could not find any evidence of biallelic variants linked to disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.31 | KCNJ2 | Arina Puzriakova Mode of inheritance for gene: KCNJ2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.30 | KCNJ2 | Arina Puzriakova Phenotypes for gene: KCNJ2 were changed from Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 to Short QT syndrome 3, OMIM:609622; Short QT syndrome type 3, MONDO:0012314; Atrial fibrillation, familial, 9, OMIM:613980; Atrial fibrillation, familial, 9, MONDO:0013513; Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | KCNJ2 | Louise Daugherty Mode of inheritance for gene KCNJ2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | KCNJ2 | Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | KCNJ2 | Louise Daugherty Publications for gene KCNJ2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | KCNJ2 | Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | KCNJ2 | Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | KCNJ2 | Louise Daugherty Added phenotypes Short QT syndrome 3, 609622; Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390 for gene: KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | KCNJ2 | Louise Daugherty Added phenotypes Atrial fibrillation, familial, 9, 613980; Short QT syndrome 3, 609622; Andersen syndrome, 170390 for gene: KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | KCNJ2 | Louise Daugherty Source Next Generation Children Project was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | KCNJ2 |
Louise Daugherty Source Expert Review Green was added to KCNJ2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | KCNJ2 |
Louise Daugherty gene: KCNJ2 was added gene: KCNJ2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: KCNJ2 was set to |