Inherited bleeding disorders
Gene: ABCG8
ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added new publication 28696550Created: 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 projectCreated: 9 Aug 2017, 12:51 p.m.
BRIDGE consortium (NIHRBR-RD)
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
-
- Undiagnosed metabolic disorders
- Sitosterolaemia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenia - NOT Fanconi anaemia
- Familial hypercholesterolaemia
- Bleeding and platelet disorders
- Rare anaemia
- Inherited bleeding disorders
- Neonatal cholestasis
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