Additional findings_Adult
Gene: LDLR
LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercholesterolemia, familial, 1, MIM# 143890
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Hypercholesterolemia, familial, 1, MIM# 143890
- OMIM
- 606945
- Clinvar variants
- Variants in LDLR
- Penetrance
- None
- Panels with this gene
History Filter Activity
30 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ldlr has been classified as Green List (High Evidence).
30 Jul 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890
30 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LDLR was added gene: LDLR was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: LDLR was set to Unknown