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  2. Cholestasis
  3. LSR
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Cholestasis

Gene: LSR

Amber List (moderate evidence)
LSR (lipolysis stimulated lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000105699
EnsemblGeneIds (GRCh37): ENSG00000105699
OMIM: 616582, Gene2Phenotype
LSR is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. As there are only 2 cases this gene has been given an Amber rating.
Created: 7 Oct 2020, 1:37 p.m. | Last Modified: 7 Oct 2020, 1:37 p.m.
Panel Version: 1.34
Created: 7 Oct 2020, 1:37 p.m.
Last Modified: 7 Oct 2020, 1:37 p.m.
Panel version: 1.34

Zornitza Stark (Australian Genomics)

I don't know

Two families reported.
Sources: Literature
Created: 2 May 2020, 2:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
transient neonatal cholestasis; intellectual disability; short stature

Publications

Created: 2 May 2020, 2:19 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • transient neonatal cholestasis
  • intellectual disability
  • short stature
Tags
watchlist
OMIM
616582
Clinvar variants
Variants in LSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: LSR.

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lsr has been classified as Amber List (Moderate Evidence).

2 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: LSR was added gene: LSR was added to Cholestasis. Sources: Literature Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSR were set to 32303357; 30250217 Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature Review for gene: LSR was set to AMBER