Inherited bleeding disordersGene: ABCG5
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, 12:51 p.m.
Comment on publications: added publication 27291889
Created: 9 Aug 2017, 12:49 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, Very rare but convincing MacroTP with MI risk / atherosclerosis. Recessive disease. Handful of cases published 19846887, 21576934 , 16029460 plus observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Platelet disorder; Sitosterolemia and Thrombocytopenia
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Publications for ABCG5 were set to 16029460; 21576934; 19846887; 28696550;27291889
ABCG5 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
ABCG5 was created by BRIDGE