Gene Symbol:
ITPR1
HGNC:6180
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p26.1
Filters:

Definitive classifications

aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AD
06/07/2016
Evaluated
11/25/2020
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AR
11/22/2019
Evaluated
11/25/2020
Submitted

Strong classifications

spinocerebellar ataxia type 15/16
Submitted as: OMIM:606658
AD
07/22/2015
Evaluated
11/25/2020
Submitted
spinocerebellar ataxia type 29
Submitted as: OMIM:117360
AD
07/22/2015
Evaluated
11/25/2020
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AD
10/15/2020
Evaluated
03/31/2021
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AR
10/15/2020
Evaluated
03/31/2021
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AD
03/01/2021
Evaluated
03/09/2021
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AR
03/01/2021
Evaluated
03/09/2021
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AR
06/11/2020
Evaluated
02/03/2022
Submitted
aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: OMIM:206700
AD
05/05/2020
Evaluated
02/03/2022
Submitted

Supportive classifications

aniridia-cerebellar ataxia-intellectual disability syndrome
Submitted as: Orphanet:1065
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spinocerebellar ataxia type 15/16
Submitted as: Orphanet:98769
AD
09/14/2021
Evaluated
09/14/2021
Submitted
spinocerebellar ataxia type 29
Submitted as: Orphanet:208513
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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