Familial hypercholesterolaemia
Gene: SREBF2
SREBF2 (sterol regulatory element binding transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000198911
EnsemblGeneIds (GRCh37): ENSG00000198911
OMIM: 600481, Gene2Phenotype
SREBF2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000198911
EnsemblGeneIds (GRCh37): ENSG00000198911
OMIM: 600481, Gene2Phenotype
SREBF2 is in 4 panels
1 review
Ellen McDonagh (Genomics England Curator)
On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.Created: 19 Feb 2016, 2:49 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- Phenotypes
-
- Familial Hypercholesterolaemia
- OMIM
- 600481
- Clinvar variants
- Variants in SREBF2
- Penetrance
- Complete
- Publications
-
- 11950857
- doi:10.1007/s12265-016-9673-5
- Panels with this gene
History Filter Activity
19 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SREBF2 was created by ellenmcdonagh
19 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SREBF2 was added to Familial hypercholesterolaemiapanel. Sources: Literature