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Additional findings health related

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

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_000527.4
Created: 21 May 2018, 3:53 p.m.
Created: 21 May 2018, 3:53 p.m.

Panel version: 0.40

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Familial hypercholesterolaemia
  • Adult and child
Transcripts
  • ENST00000558518.5
  • NM_000527.4
OMIM
606945
Clinvar variants
Variants in LDLR
Penetrance
None
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene LDLR was changed from ENST00000558518.5 to ENST00000558518.5; NM_000527.4

19 Nov 2019, Gel status: 3

Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript

Ellen McDonagh (Genomics England Curator)

Source Additional Findings was removed from LDLR. Source ACMG was removed from LDLR. Source Expert list was added to LDLR. Phenotypes for gene: LDLR were changed from ENST00000558518.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene LDLR was changed from None to ENST00000558518.5

10 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: LDLR were changed from NM_000527.4; Familial hypercholesterolaemia; Adult and child to ENST00000558518.5; Familial hypercholesterolaemia; Adult and child

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LDLR were set to NM_000527.4; Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LDLR were set to Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LDLR was changed from Other - please specify in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LDLR was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

LDLR was created by Ellen McDonagh