Inflammatory bowel disease
Gene: TTC37EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 17 panels
1 review
Lavvina Thiyagarajan (Sydney Children's Hospital Network)
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
-
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Hair disorders
- Prepair 1000+
- Liver Failure_Paediatric
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Prepair 500+
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc37 has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTC37 were set to
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
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