Inherited bleeding disordersGene: COL5A2
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, 1:17 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
This gene has been classified as Green List (High Evidence).
COL5A2 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
COL5A2 was created by BRIDGE