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  2. Hereditary Spastic Paraplegia - paediatric
  3. ATP1A1
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Hereditary Spastic Paraplegia - paediatric

Gene: ATP1A1

Red List (low evidence)
ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000163399
EnsemblGeneIds (GRCh37): ENSG00000163399
OMIM: 182310, Gene2Phenotype
ATP1A1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual with de novo variant in this gene and HSP phenotype; note gene is associated with CMT.
Sources: Literature
Created: 19 Dec 2019, 1:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary spastic paraplegia

Publications

Created: 19 Dec 2019, 1:20 a.m.

Panel version: Imported from Hereditary Spastic Paraplegia panel version 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Hereditary spastic paraplegia
OMIM
182310
Clinvar variants
Variants in ATP1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a1 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A1 were set to 31705535 Phenotypes for gene: ATP1A1 were set to Hereditary spastic paraplegia Review for gene: ATP1A1 was set to RED