Gastrointestinal neuromuscular disordersGene: TTC7A
Comment on list classification: Demoted from amber to red due to expert review.
Created: 13 Oct 2016, 4:07 p.m.
Created: 12 Oct 2016, 7:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome 243150
TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: UKGTN
TTC7A was created by sleigh
TTC7A was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen