Gastrointestinal epithelial barrier disorders
Gene: SLC37A4Comment 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.
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.
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
Gene: slc37a4 has been classified as Green List (High Evidence).
Publications for gene: SLC37A4 were set to 25356975
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
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
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)
SLC37A4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
SLC37A4 was created by Olivia Niblock