This Panel is marked as Internal
Anaemias and red cell disorders
Gene: G6PC3
G6PC3 (glucose-6-phosphatase catalytic subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 12 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe congenital neutropenia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- Neutropenia, Severe Congenital, 4 Autosomal Dominant
- Neutropenia, severe congenital 4, autosomal recessive, 612541Dursun syndrome, 612541
- Severe Congenital Neutropenia
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Likely inborn error of metabolism
- Fetal anomalies
- Cytopenias and congenital anaemias
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
History Filter Activity
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen G6PC3 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)G6PC3 was created by ellenmcdonagh
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)G6PC3 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list