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Inborn errors of metabolism

Gene: SCARB1

Red List (low evidence)

SCARB1 (scavenger receptor class B member 1)
EnsemblGeneIds (GRCh38): ENSG00000073060
EnsemblGeneIds (GRCh37): ENSG00000073060
OMIM: 601040, Gene2Phenotype
SCARB1 is in 3 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

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
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

Ellen McDonagh (Genomics England Curator)

gene: SCARB1 was added gene: SCARB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCARB1 were set to 27604308 Phenotypes for gene: SCARB1 were set to [High density lipoprotein cholesterol level QTL6] 610762; Scavenger receptor class B type I deficiency (Inherited hypolipidaemias)