Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ATP6AP1
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 PhenotypeCreated: 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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES
Publications
Source NHS GMS was added to ATP6AP1.
Source North West GLH was added to ATP6AP1.
Source London North GLH was added to ATP6AP1.
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.
Gene: atp6ap1 has been classified as Green List (High Evidence).
Gene: atp6ap1 has been classified as Green List (High Evidence).
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
Publications for gene: ATP6AP1 were set to 27231034
Mode of inheritance for gene: ATP6AP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene ATP6AP1 were set to Hepatopathy, leukopenia, low copper, Predominantly Antibody Deficiencies
ATP6AP1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
ATP6AP1 was created by Louise Daugherty