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Severe Paediatric Disorders v0.12 | SCNN1A | Louise Daugherty reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SCNN1A | Louise Daugherty Publications for gene SCNN1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SCNN1A | Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCNN1A | Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SCNN1A | Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCNN1A | Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SCNN1A |
Louise Daugherty Mode of inheritance for gene SCNN1A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A |
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Severe Paediatric Disorders v0.7 | SCNN1A | Louise Daugherty Source Next Generation Children Project was added to SCNN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SCNN1A |
Louise Daugherty Source Expert Review Green was added to SCNN1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SCNN1A |
Louise Daugherty gene: SCNN1A was added gene: SCNN1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCNN1A was set to |