Cholestasis
Gene: LSREnsemblGeneIds (GRCh38): ENSG00000105699
EnsemblGeneIds (GRCh37): ENSG00000105699
OMIM: 616582, Gene2Phenotype
LSR is in 2 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
gnomAD: 0 hom PTCs
PMID: 32303357 - chet (missense, fs) patient w/ infantile intrahepatic cholestasis.
No direct functional studies of the missense, but immunohistochemical staining using anti-LSR antibodies showed absent expression of LSR at the tricellular tight junctions in the patient reported, observable in a control. Called path by ACMG.
PMID: 30250217 - hom missense in a proband with high total serum bile acids, total/direct bilirubin, ALT, AST, ALP, and normal GGT. He had mildly impaired intellectual development (IQ, 70-77), speech delay, severely impaired fine motor coordination, and short stature. Called a VUS in OMIM, no functional to support (no homs in gnomAD and well conserved)
PMID: 15265030 - hom K/O mice were non-viable with liver anomaliesCreated: 26 Sep 2022, 6:01 a.m. | Last Modified: 26 Sep 2022, 6:01 a.m.
Panel Version: 0.236
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
transient neonatal cholestasis; intellectual disability; short stature
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported.
Sources: LiteratureCreated: 22 Apr 2020, 11:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
transient neonatal cholestasis; intellectual disability; short stature
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lsr has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lsr has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; 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