Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: TTC37EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 11 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.Created: 30 Jun 2022, 3:50 p.m. | Last Modified: 30 Jun 2022, 3:58 p.m.
Panel Version: 1.39
Associated with phenotype in OMIM and 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. Nine variants reported.Created: 5 Sep 2016, 7 a.m.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Trichohepatoenteric syndrome 1 222470
- Tags
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag new-gene-name tag was added to gene: TTC37.
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.
Upload gene information
Sarah Leigh (Genomics England Curator)TTC37 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1 222470
Created
Ellen McDonagh (Genomics England Curator)TTC37 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TTC37 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list