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Severe Paediatric Disorders v0.17 | ITPR1 | Louise Daugherty Mode of inheritance for gene ITPR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | ITPR1 | Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | ITPR1 | Louise Daugherty Publications for gene ITPR1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | ITPR1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ITPR1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | ITPR1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia 15, 606658; Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | ITPR1 | Louise Daugherty Added phenotypes Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360; Spinocerebellar ataxia 15, 606658 for gene: ITPR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | ITPR1 | Louise Daugherty Source Next Generation Children Project was added to ITPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | ITPR1 |
Louise Daugherty Source Expert Review Green was added to ITPR1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | ITPR1 |
Louise Daugherty gene: ITPR1 was added gene: ITPR1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ITPR1 was set to |