Congenital neutropaenia
Gene: G6PC3EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
4 reviews
Sophie Hambleton (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
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
-
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Congenital neutropaeniapanel. Source: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Congenital neutropaeniapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()G6PC3 was added to Congenital neutropaeniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()G6PC3 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen