Inflammatory bowel disease

Gene: TTC37

Green List (high evidence)

TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 17 panels

1 review

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM#222470
  • Colitis
  • Pancolitis
  • Inflammatory bowel disease-like phenotype
  • Very Early Onset Inflammatory Bowel Disease
OMIM
614589
Clinvar variants
Variants in TTC37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc37 has been classified as Green List (High Evidence).

9 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTC37 were set to

9 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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