Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: G6PC3EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
6 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 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)
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.
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tracy Briggs (Manchester Genomic Medicine Centre)
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
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Congenital neutropaenia v1.22
- Phenotypes
-
- 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
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to G6PC3.
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to G6PC3.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to G6PC3.
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.
Set penetrance
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)IUIS Classification February 2018 was added to G6PC3. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)Victorian Clinical Genetics Services was added to G6PC3. Panel: Primary immunodeficiency disorders
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: g6pc3 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: G6PC3 were set to 19118303; 20616219
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)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
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541, Dursun syndrome, 612541, Severe Congenital Neutropenia, Neutropenia, severe congenital 4
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)G6PC3 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
Created
Louise Daugherty (Genomics England Curator)G6PC3 was created by Louise Daugherty