Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: TTC7AEnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Epithelial Barrier Dysfunction from PMID 27302973
Created: 2 Sep 2016, 9:47 a.m.
Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.Created: 2 Sep 2016, 7:13 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- TTC7A deficiency
- Epithelial Barrier Dysfunction
- Gastrointestinal defects and immunodeficiency syndrome 243150
- OMIM
- 609332
- Clinvar variants
- Variants in TTC7A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intestinal failure or congenital diarrhoea
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TTC7A were set to TTC7A deficiency; Epithelial Barrier Dysfunction; Gastrointestinal defects and immunodeficiency syndrome 243150
Upload gene information
Sarah Leigh (Genomics England Curator)TTC7A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Set publications
Sarah Leigh (Genomics England Curator)Publications for TTC7A were set to 24417819; 27302973
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TTC7A were set to TTC7A deficiency; Gastrointestinal defects and immunodeficiency syndrome 243150
Added New Source
Ellen McDonagh (Genomics England Curator)TTC7A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TTC7A was created by ellenmcdonagh