Inherited bleeding disordersGene: COL5A1
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:11 p.m.
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding disorder; Ehlers-Danlos syndrome, classic type
Variants in this GENE are reported as part of current diagnostic practice
Publications for COL5A1 were set to 8950675; 25845371
This gene has been classified as Green List (High Evidence).
COL5A1 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
COL5A1 was created by BRIDGE