Inflammatory bowel disease
Gene: TTC7A

TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 9 panels

2 reviews

Lavvina Thiyagarajan (Sydney Children's Hospital Network)

Green List (high evidence)

Multiple unrelated individuals in literature
Recent publication regarding possible treatment of inflammatory bowel disease component with leflunamide (at animal model stage)
Created: 4 Mar 2021, 11:08 p.m. | Last Modified: 4 Mar 2021, 11:08 p.m.

Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gastrointestinal defects and immunodeficiency syndrome, 243150; Very Early Onset Inflammatory Bowel Disease (VEOIBD)

Publications

Created: 4 Mar 2021, 11:08 p.m.
Last Modified: 4 Mar 2021, 11:08 p.m.
Panel version: 0.42

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gastrointestinal defects and immunodeficiency syndrome, 243150

Publications

Created: 4 Feb 2020, 6:54 a.m.
Last Modified: 4 Feb 2020, 6:54 a.m.
Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Gastrointestinal defects and immunodeficiency syndrome, 243150
Very Early Onset Inflammatory Bowel Disease (VEOIBD)

OMIM

609332

Clinvar variants

Variants in TTC7A

Penetrance

None

Publications

Panels with this gene