Gastrointestinal epithelial barrier disorders
Gene: TTC7A

TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 11 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Previous curation and expert review suggest that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, will promote this gene to green.
Created: 26 Jul 2018, 11:18 a.m.

Created: 26 Jul 2018, 11:18 a.m.

Panel version: 1.29

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.

Created: 2 Sep 2016, 9:48 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.24

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Gastrointestinal defects and immunodeficiency syndrome, 243150

OMIM

609332

Clinvar variants

Variants in TTC7A

Penetrance

None

Panels with this gene