Gastrointestinal epithelial barrier disorders
Gene: TTC37EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 11 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:21 p.m.
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: 1.73
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
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Trichohepatoenteric syndrome 1, 222470
- Early Onset Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Trichohepatoenteric syndrome 1 222470
- Tags
- OMIM
- 614589
- Clinvar variants
- Variants in TTC37
- Penetrance
- None
- 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
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- 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 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ttc37 has been classified as Green List (High Evidence).
Set penetrance, Set publications
Olivia Niblock (Genomics England Curator)Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, 222470, Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Trichohepatoenteric syndrome 1 222470 Publications for gene TTC37 was set to ['27302973', ' 20176027']
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to TTC37. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, 222470, Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Emory Genetics Laboratory was added to TTC37. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene TTC37 were set to Trichohepatoenteric syndrome 1, 222470, Early Onset Inflammatory Bowel Disease
Added New Source
Olivia Niblock (Genomics England Curator)Expert list was added to TTC37. Panel: Gastrointestinal epithelial barrier disorders
Added New Source
Olivia Niblock (Genomics England Curator)TTC37 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)TTC37 was created by Olivia Niblock