Gastrointestinal neuromuscular disorders
Gene: CAVIN1Added new gene name tag. New approved gene symbol is CAVIN1Created: 8 May 2017, 11:20 a.m.
Comment on list classification: Demoted from green to red due to expert review.Created: 13 Oct 2016, 4:06 p.m.
not cipo (Chronic Intestinal Pseudobstruction) geneCreated: 12 Oct 2016, 7:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PTRF was changed to CAVIN1
new-gene-name was removed from PTRF. Panel: Neonatal and familial gastrointestinal neuromuscular disorders
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 PTRF were set to Lipodystrophy, congenital generalized, type 4 613327
PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
PTRF was created by sleigh
PTRF was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN