Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: G6PC3
agree with green geneCreated: 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): G6PC3 .PanelApp HGNC gene symbol check: G6PC3 . IUIS Disease: G6PC3 deficiency (SCN4) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N . IUIS Associated features: Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 2 Jul 2018, 10:35 a.m.
Comment on publications: added publications to support the phenotypeCreated: 13 Jun 2018, 1:53 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: G6PC3, PanelApp HGNC gene symbol check: G6PC3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Congenital neutropenia / Congenital neutropeniaCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: G6PC3, GRID_Gene_Symbol: G6PC3, GRID_Transcript_ENS_Community submitted: ENST00000269097, GRID_Transcript_RefSeq: NM_138387.3, GRID_Transcript_ENS_used_on_Production: ENST00000269097Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Comment when marking as ready: Association with the condition in OMIM, no association in G2P. Three expert reviewers consider it to be green and it's found in 2/4 sourcesCreated: 24 May 2016, 7:38 p.m.
Source NHS GMS was added to G6PC3.
Source North West GLH was added to G6PC3.
Source London North GLH was added to G6PC3.
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.
Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia, Neutropenia, severe congenital 4, Congenital neutropenia, Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs, Congenital defects of phagocyte number or function
IUIS Classification February 2018 was added to G6PC3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to G6PC3. Panel: Primary immunodeficiency disorders
Gene: g6pc3 has been classified as Green List (High Evidence).
Publications for gene: G6PC3 were set to 19118303; 20616219
ESID Registry 20171117 was added to G6PC3. Panel: Primary immunodeficiency disorders Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia, Neutropenia, severe congenital 4, Congenital neutropenia
Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia, Neutropenia, severe congenital 4
GRID V2.0 was added to G6PC3. Panel: Primary immunodeficiency disorders Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia, Neutropenia, severe congenital 4
G6PC3 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
G6PC3 was created by Louise Daugherty