Gastrointestinal epithelial barrier disorders
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: From expert review and the literature, variants in this gene appear to be linked with gastrointestinal phenotypes related to Glycogen Storage Disease type 1b.Created: 26 Jul 2018, 1:23 p.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least 14 variants reported in Glycogen storage disease Ib 232220Created: 5 Sep 2016, 9:08 a.m.
Comment on phenotypes: Variants also reported in Glycogen storage disease Ic 232240Created: 5 Sep 2016, 9:07 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Glycogen storage disease Ib, OMIM:232220
- Glycogen storage disease Ic, OMIM:232240
- Early Onset Inflammatory Bowel Disease
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- COVID-19 research
- Ketotic hypoglycaemia
- Glycogen storage disease
- Hyperammonaemia
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- DDG2P
- 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
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC37A4 were changed from Early Onset Inflammatory Bowel Disease; Inflammatory Bowel Disease (Very Early Onset); Glycogen storage disease type 1b 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Early Onset Inflammatory Bowel Disease
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: slc37a4 has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for gene: SLC37A4 were set to 25356975
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
Set mode of inheritance, Set penetrance
Olivia Niblock (Genomics England Curator)Model of inheritance for gene SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene SLC37A4 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Glycogen storage disease type 1b 232220
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to SLC37A4. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene SLC37A4 were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Added New Source
Olivia Niblock (Genomics England Curator)SLC37A4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)SLC37A4 was created by Olivia Niblock