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Severe Paediatric Disorders v0.12 | PHOX2B | Louise Daugherty reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHOX2B | Louise Daugherty Publications for gene PHOX2B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PHOX2B | Louise Daugherty Mode of inheritance for gene PHOX2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PHOX2B | Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHOX2B | Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PHOX2B | Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PHOX2B | Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PHOX2B | Louise Daugherty Source Next Generation Children Project was added to PHOX2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PHOX2B |
Louise Daugherty Source Expert Review Green was added to PHOX2B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PHOX2B |
Louise Daugherty gene: PHOX2B was added gene: PHOX2B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PHOX2B was set to |