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  2. Newborns additional phenotypes panel 1
  3. LDLR
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Newborns additional phenotypes panel 1

Gene: LDLR

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:23 a.m. | Last Modified: 7 Jul 2023, 9:23 a.m.
Panel Version: 0.31
https://search.clinicalgenome.org/kb/genes/HGNC:6547
Created: 7 Jul 2023, 9:22 a.m. | Last Modified: 7 Jul 2023, 9:22 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:22 a.m.
Last Modified: 7 Jul 2023, 9:22 a.m.
Panel version: 0.31

History Filter Activity

13 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to LDLR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Familial hypercholesterolemia-1 for gene: LDLR

5 Jul 2023, Gel status: 3

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 additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDLR were set to Familial hypercholesterolemia-1