Intestinal failure or congenital diarrhoea
Gene: TTC7A
TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
- OMIM
- 609332
- Clinvar variants
- Variants in TTC7A
- Penetrance
- None
- 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
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TTC7A was added gene: TTC7A was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150