Gastrointestinal epithelial barrier disorders

Gene: TTC7A

Green List (high evidence)

TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 12 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.

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.

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: ttc7a has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

Expert list was added to TTC7A. Panel: Gastrointestinal epithelial barrier disorders

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

TTC7A was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

TTC7A was created by Olivia Niblock