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  3. ATP1A1
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Hereditary Neuropathy_CMT - isolated

Gene: ATP1A1

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

As of 10/10/2022 - ClinGen has classified this gene-disease association as Moderate with the intention of upgrading the classification to definitive with the release of further publications.

https://search.clinicalgenome.org/CCID:004208
Created: 8 Apr 2024, 11:25 p.m. | Last Modified: 8 Apr 2024, 11:25 p.m.
Panel Version: 1.39
Created: 8 Apr 2024, 11:25 p.m.
Last Modified: 8 Apr 2024, 11:25 p.m.
Panel version: 1.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 unrelated families reported. Five of the mutations occurred in a hotspot within the helical linker region (residues 592 to 608) that couples the N and P domains involved in ATP hydrolysis and phosphorylation.

Mono-allelic variants in this gene are also associated with hypoMg and ID.
Created: 25 May 2021, 10:36 a.m. | Last Modified: 25 May 2021, 10:36 a.m.
Panel Version: 0.179

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2DD, MIM# 618036

Publications

Created: 25 May 2021, 10:36 a.m.
Last Modified: 25 May 2021, 10:36 a.m.
Panel version: 0.179

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036
  • MONDO:0054833
OMIM
182310
Clinvar variants
Variants in ATP1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp1a1 has been classified as Green List (High Evidence).

25 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATP1A1 were changed from Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833

25 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATP1A1 were set to

25 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATP1A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP1A1 was added gene: ATP1A1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, 618036