Likely inborn error of metabolism
Gene: SCARB1

SCARB1 (scavenger receptor class B member 1)
EnsemblGeneIds (GRCh38): ENSG00000073060
EnsemblGeneIds (GRCh37): ENSG00000073060
OMIM: 601040, Gene2Phenotype
SCARB1 is in 4 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

SCARB1 variants (P376L) are associated with high HDL cholesterol level (PMID 26965621), but no other clinical phenotype. Omim lists as non-pathogenic phenotype
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
[High density lipoprotein cholesterol level QTL6] 610762

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

[High density lipoprotein cholesterol level QTL6] 610762
Scavenger receptor class B type I deficiency (Inherited hypolipidaemias)

OMIM

601040

Clinvar variants

Variants in SCARB1

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SCARB1. Source London North GLH was added to SCARB1.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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