Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
2 reviews
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
-
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Glycogen storage disease Ib, OMIM:232220
- Glycogen storage disease Ic, OMIM:232240
- OMIM
- 602671
- Clinvar variants
- Variants in SLC37A4
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Ketotic hypoglycaemia
- Glycogen storage disease
- Hyperammonaemia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease type 1b 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC37A4 were set to Glycogen storage disease type 1b 232220
Upload gene information
Sarah Leigh (Genomics England Curator)SLC37A4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SLC37A4 were set to Glycogen storage disease type 1b 232220
Created
Ellen McDonagh (Genomics England Curator)SLC37A4 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SLC37A4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list