Gastrointestinal epithelial barrier 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
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From internal clinical review, unable to discern a clearly related gastrointestinal phenotype for this panel in particular.
Therefore, keeping this gene red.Created: 25 Jul 2018, 1:24 p.m.
Richard Scott (Genomics England Curator)
Comment on list classification: Appropriate phenotype for inclusionCreated: 13 Oct 2016, 8:50 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red. Rated green by expert reviewer, and clear evidence for neutropenia, though unsure whether this should be included on this panel.Created: 12 Oct 2016, 1:17 p.m.
Neil shah (GOSH)
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 611045
- Clinvar variants
- Variants in G6PC3
- Penetrance
- None
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Congenital disorders of glycosylation
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
History Filter Activity
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
25 Jul 2018, Gel status: 1
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: g6pc3 has been classified as Red List (Low Evidence).
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)G6PC3 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)G6PC3 was created by Olivia Niblock