Gastrointestinal neuromuscular disorders

Gene: TTC7A

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review.
13 Oct 2016, 4:07 p.m.

Neil shah (GOSH)

Red List (low evidence)

IBD gene
12 Oct 2016, 7:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome 243150
OMIM
609332
Clinvar variants
Variants in TTC7A
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

13 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TTC7A was created by sleigh