Ketotic hypoglycaemia
Gene: SLC37A4EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 14 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. Found in 4/4 original sources searched. Multiple cases for different variants reported in OMIM.Created: 8 Jun 2016, 8:43 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- 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 heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia; Glycogen storage disease Ib, 232220; Glycogen storage disease Ic, 232240; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)SLC37A4 was added to Ketotic hypoglycaemiapanel. Sources: Literature