Inherited bleeding disordersGene: ABCG8
Comment on publications: added new publication 28696550
Created: 9 Aug 2017, 12:52 p.m.
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.
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. Plus observed in the NIHRBR-RD BRIDGE cohort. MacroTP with MI risk and or atherosclerosis. Recessive disease with a handful of cases published, 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
Publications for ABCG8 were set to 16029460; 21576934; 28696550
This gene has been classified as Green List (High Evidence).
ABCG8 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
ABCG8 was created by BRIDGE