Gene Symbol:
ORAI1
HGNC:25896
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.31
Filters:

Definitive classifications

tubular aggregate myopathy
AD
07/13/2020
Evaluated
10/18/2023
Submitted

Strong classifications

combined immunodeficiency due to ORAI1 deficiency
Submitted as: OMIM:612782
AR
09/02/2022
Evaluated
11/30/2023
Submitted
myopathy, tubular aggregate, 2
Submitted as: OMIM:615883
AD
04/16/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Stormorken syndrome
Submitted as: Orphanet:3204
AD
09/14/2021
Evaluated
09/14/2021
Submitted
tubular aggregate myopathy
Submitted as: Orphanet:2593
AD
09/14/2021
Evaluated
09/14/2021
Submitted
combined immunodeficiency due to ORAI1 deficiency
Submitted as: Orphanet:317428
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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