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COVID-19 research

Gene: G6PC3

Green List (high evidence)

G6PC3 (glucose-6-phosphatase catalytic subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 13 panels

6 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

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): 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 Neutropenias
Created: 2 Jul 2018, 10:35 a.m.
Comment on publications: added publications to support the phenotype
Created: 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 neutropenia
Created: 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: ENST00000269097
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

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 sources
Created: 24 May 2016, 7:38 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
  • Congenital neutropenia
  • Dursun syndrome, 612541
  • Severe Congenital Neutropenia
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 4
OMIM
611045
Clinvar variants
Variants in G6PC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: G6PC3 was added gene: G6PC3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC3 were set to 19118303; 20616219 Phenotypes for gene: G6PC3 were set to Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs; Congenital neutropenia; Dursun syndrome, 612541; Severe Congenital Neutropenia; Neutropenia, severe congenital 4, autosomal recessive, 612541; Congenital defects of phagocyte number or function; Neutropenia, severe congenital 4