Inflammatory bowel disease
Gene: TTC37
5 unrelated individuals with TTC37 variants, a diagnosis of Trichohepatenteric sydnrome and IBD like features (colitis, pancolitis, histological changes suggestive of IBD). Individuals only respond partially to traditional IBD treatment. This
should be suspected in patients with VEOIBD presenting with signs of THE (ie hair abnormalities, IUGR, and immune
defects).Created: 9 Mar 2021, 3:59 a.m. | Last Modified: 9 Mar 2021, 3:59 a.m.
Panel Version: 0.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1; Colitis; Pancolitis; Inflammatory bowel disease-like phenotype; Very Early Onset Inflammatory Bowel Disease
Publications
Gene: ttc37 has been classified as Green List (High Evidence).
Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM#222470; Colitis; Pancolitis; Inflammatory bowel disease-like phenotype; Very Early Onset Inflammatory Bowel Disease
Publications for gene: TTC37 were set to
Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: TTC37 was added gene: TTC37 was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTC37 was set to Unknown