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  2. Common Variable Immunodeficiency
  3. ATP6AP1
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Common Variable Immunodeficiency

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 1:47 a.m. | Last Modified: 21 Jul 2020, 1:47 a.m.
Panel Version: 0.39
Created: 21 Jul 2020, 1:47 a.m.
Last Modified: 21 Jul 2020, 1:47 a.m.
Panel version: 0.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

11 patients from 6 families reported.
Sources: Expert list
Created: 8 Jan 2020, 12:42 a.m.

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

Phenotypes
Immunodeficiency 47, MIM#300972

Publications

Created: 8 Jan 2020, 12:42 a.m.

Panel version: 0.3

Details

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

History Filter Activity

21 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6AP1 was added gene: ATP6AP1 was added to Common Variable Immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972 Review for gene: ATP6AP1 was set to GREEN