This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- None
- Panels with this gene
-
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Fetal anomalies
- Congenital disorders of glycosylation
- Gastrointestinal epithelial barrier disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: G6PC3 was added gene: G6PC3 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: G6PC3 was set to Unknown