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Newborns main panel

Gene: LDLR

Green List (high evidence)
LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Gene also associated with AD familial hypercholesterolaemia which is not currently included in the study.
Created: 26 Sep 2024, 3:47 p.m. | Last Modified: 26 Sep 2024, 3:47 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Familial Hypercholesterolemia Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50004/
Created: 26 Sep 2024, 3:47 p.m. | Last Modified: 26 Sep 2024, 3:47 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 3:47 p.m.
Last Modified: 26 Sep 2024, 3:47 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:6547
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: LDLR.

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LDLR were changed from Homozygous Familial hypercholesterolemia-1 to Homozygous Familial hypercholesterolaemia-1

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Homozygous Familial hypercholesterolemia-1 for gene: LDLR

14 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: LDLR were changed from Familial hypercholesterolemia-1; Homozygous Familial hypercholesterolemia-1 to Homozygous Familial hypercholesterolemia-1

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to LDLR. Mode of inheritance for gene LDLR was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Homozygous Familial hypercholesterolemia-1 for gene: LDLR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LDLR. Added phenotypes Familial hypercholesterolemia-1 for gene: LDLR Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to LDLR. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: LDLR was added gene: LDLR was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: LDLR were set to Familial hypercholesterolemia-1