Gastrointestinal neuromuscular disorders
Gene: TTC7AEnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from amber to red due to expert review.Created: 13 Oct 2016, 4:07 p.m.
Neil shah (GOSH)
IBD geneCreated: 12 Oct 2016, 7:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Gastrointestinal defects and immunodeficiency syndrome 243150
- OMIM
- 609332
- Clinvar variants
- Variants in TTC7A
- Penetrance
- Complete
- 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
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome 243150
Added New Source
Sarah Leigh (Genomics England Curator)TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN
Created
Sarah Leigh (Genomics England Curator)TTC7A was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen