Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: SLC37A4
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 Glycogen storage disease type 1b 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Phenotypes for SLC37A4 were set to Glycogen storage disease type 1b 232220
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
Phenotypes for gene SLC37A4 were set to Glycogen storage disease type 1b 232220
SLC37A4 was created by ellenmcdonagh
SLC37A4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list