Inherited bleeding disorders

Gene: ABCG8

Green List (high evidence)

ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Platelet disorder; Sitosterolemia and Thrombocytopenia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Platelet disorder
  • Sitosterolemia and Thrombocytopenia
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ABCG8 were set to 16029460; 21576934; 28696550

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

ABCG8 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

ABCG8 was created by BRIDGE