Congenital neutropaenia

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 14 panels

4 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

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
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Dursun syndrome, 612541
  • Severe Congenital Neutropenia
OMIM
611045
Clinvar variants
Variants in G6PC3
Penetrance
Complete
Panels with this gene

History Filter Activity

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541; Dursun syndrome, 612541; Severe Congenital Neutropenia

24 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene G6PC3 were set to Neutropenia, severe congenital 4, autosomal recessive, 612541; Dursun syndrome, 612541; Severe Congenital Neutropenia

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PC3 was added to Congenital neutropaeniapanel. Source: Expert list

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PC3 was added to Congenital neutropaeniapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PC3 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

G6PC3 was added to Congenital neutropaeniapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

G6PC3 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen