ITPR1

inositol 1,4,5-trisphosphate receptor type 1
OMIM: 147265
PanelMode of inheritanceDetails
5 panels
Green
in Aniridia
R-numbers: R38
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Gillespie syndrome 206700
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 29, Gillespie syndrome 206700, Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, congenital nonprogressive
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
SPINOCEREBELLAR ATAXIA TYPE15 606658, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360, Gillespie Syndrome 206700
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 15, 606658, Gillespie syndrome, 206700, Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, Spinocerebellar ataxia 29, 117360
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gillespie syndrome 206700