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Mendeliome

Gene: LSR

Amber List (moderate evidence)

LSR (lipolysis stimulated lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000105699
EnsemblGeneIds (GRCh37): ENSG00000105699
OMIM: 616582, Gene2Phenotype
LSR is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis

Publications

Ee Ming Wong (Victorian Clinical Genetics Services)

I don't know

2 unrelated individuals (1 from a consanguineous family) carrying homozygous missense variants in LSR
Created: 22 Apr 2020, 10:43 p.m. | Last Modified: 22 Apr 2020, 10:43 p.m.
Panel Version: 0.2595

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intrahepatic cholestasis

Publications

Details

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

History Filter Activity

22 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LSR were set to PMID: 30250217

22 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lsr has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Apr 2020, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

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