Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | GABBR2 | Louise Daugherty Mode of inheritance for gene GABBR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | GABBR2 | Louise Daugherty reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | GABBR2 | Louise Daugherty Publications for gene GABBR2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | GABBR2 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GABBR2 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GABBR2 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with poor language and loss of hand skills, 617903; Epileptic encephalopathy, early infantile, 59, 617904 for gene: GABBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | GABBR2 | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 59, 617904; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 for gene: GABBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | GABBR2 | Louise Daugherty Source Next Generation Children Project was added to GABBR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | GABBR2 |
Louise Daugherty Source Expert Review Green was added to GABBR2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | GABBR2 |
Louise Daugherty gene: GABBR2 was added gene: GABBR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GABBR2 was set to |