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Primary 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

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ATP6AP1 .PanelApp HGNC gene symbol check: ATP6AP1 . IUIS Disease: ATP6AP1 deficiency . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Hepatopathy, leukopenia, low copper. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 6 Jul 2018, 12:16 p.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease association, more than three unrelated cases.
Created: 6 Jul 2018, 9:54 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 6 Jul 2018, 9:53 a.m.
Four variants reported in six unrelated families.
Created: 6 Jul 2018, 9:50 a.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Phenotypes
IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 47, 300972
  • Hepatopathy, leukopenia, low copper
  • Predominantly Antibody Deficiencies
  • Immunodeficiency and hepatopathy with or without neurologic features
OMIM
300197
Clinvar variants
Variants in ATP6AP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP6AP1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ATP6AP1.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATP6AP1.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972; Hepatopathy, leukopenia, low copper; Predominantly Antibody Deficiencies; Immunodeficiency and hepatopathy with or without neurologic features

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATP6AP1 were set to 27231034

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ATP6AP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ATP6AP1 were set to Hepatopathy, leukopenia, low copper, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ATP6AP1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ATP6AP1 was created by Louise Daugherty