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Prepair 1000+

Gene: ATP6AP1

Green List (high evidence)
ATP6AP1 (ATPase H+ transporting accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000071553
EnsemblGeneIds (GRCh37): ENSG00000071553
OMIM: 300197, Gene2Phenotype
ATP6AP1 is in 8 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioural abnormalities.

On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 26 Nov 2024, 6:50 a.m. | Last Modified: 26 Nov 2024, 6:50 a.m.
Panel Version: 1.592

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodeficiency 47, MIM#300972

Publications

Created: 26 Nov 2024, 6:50 a.m.
Last Modified: 26 Nov 2024, 6:50 a.m.
Panel version: 1.592

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 47, MIM#300972
OMIM
300197
Clinvar variants
Variants in ATP6AP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: atp6ap1 has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, 300972 (3), X-linked recessive to Immunodeficiency 47, MIM#300972

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ATP6AP1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6AP1 was added gene: ATP6AP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive