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  2. Familial hypercholesterolaemia
  3. LDLR
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Familial hypercholesterolaemia

Gene: LDLR

Green List (high evidence)
LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 10 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal Dominant (OMIM) however FH has been reported to follow codominant inheritance (het, chet, hom) (PMID: 10978268)

some evidence of reduced penetrance of FH (GeneReviews).
Created: 27 Nov 2020, 3:59 a.m. | Last Modified: 27 Nov 2020, 3:59 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypercholesterolemia, familial, 1 143890

Publications

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

Created: 27 Nov 2020, 3:59 a.m.
Last Modified: 27 Nov 2020, 3:59 a.m.
Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 1 143890
OMIM
606945
Clinvar variants
Variants in LDLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 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).

27 Nov 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 143890

27 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LDLR were set to

27 Nov 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

9 Jan 2020, 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 Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LDLR was set to Unknown