Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: SLC37A4

Green List (high evidence)

SLC37A4 (solute carrier family 37 member 4)
EnsemblGeneIds (GRCh38): ENSG00000137700
EnsemblGeneIds (GRCh37): ENSG00000137700
OMIM: 602671, Gene2Phenotype
SLC37A4 is in 13 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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 232220
Created: 5 Sep 2016, 9:08 a.m.
Comment on phenotypes: Variants also reported in Glycogen storage disease Ic 232240
Created: 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 type 1b 232220
OMIM
602671
Clinvar variants
Variants in SLC37A4
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

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.

5 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC37A4 were set to Glycogen storage disease type 1b 232220

5 Sep 2016, Gel status: 4

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

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SLC37A4 were set to Glycogen storage disease type 1b 232220

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC37A4 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC37A4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list