Gene Symbol:
SETX
HGNC:445
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q34.13
Filters:

Definitive classifications

amyotrophic lateral sclerosis type 4
Submitted as: OMIM:602433
AD
01/18/2018
Evaluated
09/28/2021
Submitted
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Submitted as: OMIM:606002
AR
01/18/2018
Evaluated
09/28/2021
Submitted
distal hereditary motor neuropathy
AD
08/03/2022
Evaluated
04/21/2024
Submitted

Strong classifications

amyotrophic lateral sclerosis type 4
Submitted as: OMIM:602433
AD
04/19/2021
Evaluated
11/30/2023
Submitted
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Submitted as: OMIM:606002
AR
09/13/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Submitted as: Orphanet:64753
AR
09/14/2021
Evaluated
09/14/2021
Submitted
amyotrophic lateral sclerosis type 4
Submitted as: Orphanet:357043
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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