Gene Symbol:
ATP1A1
HGNC:799
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p13.1
Filters:

Strong classifications

charcot-marie-tooth disease, axonal, type 2DD
Submitted as: OMIM:618036
AD
02/08/2023
Evaluated
11/30/2023
Submitted
hypomagnesemia, seizures, and intellectual disability 2
Submitted as: OMIM:618314
AD
12/02/2019
Evaluated
11/30/2023
Submitted

Moderate classifications

charcot-marie-tooth disease, axonal, type 2DD
Submitted as: OMIM:618036
AD
08/29/2019
Evaluated
12/24/2020
Submitted
charcot-marie-tooth disease, axonal, type 2DD
AD
10/10/2022
Evaluated
10/18/2023
Submitted

Supportive classifications

charcot-marie-tooth disease, axonal, type 2DD
Submitted as: Orphanet:521414
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

hypomagnesemia, seizures, and intellectual disability 2
AD
07/31/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The ATP1A1 gene was first reported in relation to autosomal dominant ATP1A1-related hypomagnesemia,... Read more

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