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  3. SCARB1
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Dyslipidaemia

Gene: SCARB1

Amber List (moderate evidence)
SCARB1 (scavenger receptor class B member 1)
EnsemblGeneIds (GRCh38): ENSG00000073060
EnsemblGeneIds (GRCh37): ENSG00000073060
OMIM: 601040, Gene2Phenotype
SCARB1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Benign clinical phenotype
Created: 8 Feb 2021, 11:31 p.m. | Last Modified: 8 Feb 2021, 11:31 p.m.
Panel Version: 0.18
Monallelic and biallelic carriers have increased HDL cholesterol levels, but no other clinical phenotype.
Sources: Literature
Created: 8 Feb 2021, 11:31 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias

Publications

Created: 8 Feb 2021, 11:31 p.m.

Panel version: 0.17

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • High density lipoprotein cholesterol level QTL6 MIM#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

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: scarb1 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: scarb1 has been classified as Amber List (Moderate Evidence).

8 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCARB1 was added gene: SCARB1 was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCARB1 were set to 21226579; 30720493; 21480869; 26965621; 27604308 Phenotypes for gene: SCARB1 were set to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias Review for gene: SCARB1 was set to GREEN