Gene Symbol:
ATP1A3
HGNC:801
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
19q13.2
Filters:

Definitive classifications

alternating hemiplegia of childhood 2
Submitted as: OMIM:614820
AD
03/25/2016
Evaluated
03/02/2021
Submitted
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Submitted as: OMIM:601338
AD
02/22/2018
Evaluated
03/02/2021
Submitted
ATP1A3-associated neurological disorder
AD
02/27/2020
Evaluated
10/27/2022
Submitted
ATP1A3-associated neurological disorder
AD
05/22/2022
Evaluated
01/16/2023
Submitted

Strong classifications

alternating hemiplegia of childhood 2
Submitted as: OMIM:614820
AD
01/28/2021
Evaluated
03/31/2021
Submitted
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Submitted as: OMIM:601338
AD
01/28/2021
Evaluated
03/31/2021
Submitted
AD
01/28/2021
Evaluated
03/31/2021
Submitted

Moderate classifications

AD
03/25/2016
Evaluated
03/02/2021
Submitted
encephalopathy, acute, infection-induced
AD
08/06/2018
Evaluated
09/28/2021
Submitted

Supportive classifications

alternating hemiplegia of childhood
Submitted as: Orphanet:2131
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Submitted as: Orphanet:1171
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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