Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: TTC7A

Green List (high evidence)

TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 10 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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.

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

History Filter Activity

14 Oct 2016, Gel status: 4

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.

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TTC7A were set to TTC7A deficiency; Epithelial Barrier Dysfunction; Gastrointestinal defects and immunodeficiency syndrome 243150

2 Sep 2016, Gel status: 2

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

2 Sep 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TTC7A were set to 24417819; 27302973

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TTC7A were set to TTC7A deficiency; Gastrointestinal defects and immunodeficiency syndrome 243150

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TTC7A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TTC7A was created by ellenmcdonagh