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Mendeliome

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)

Comment on list classification: Benign clinical phenotype
Created: 9 Feb 2021, 2:39 a.m. | Last Modified: 9 Feb 2021, 2:39 a.m.
Panel Version: 0.6308
Monallelic and biallelic carriers have increased HDL cholesterol levels, but no other clinical phenotype.
Created: 9 Feb 2021, 2:39 a.m. | Last Modified: 9 Feb 2021, 2:39 a.m.
Panel Version: 0.6307

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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

9 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).

9 Feb 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SCARB1 were changed from to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias

9 Feb 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SCARB1 were set to

9 Feb 2021, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SCARB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCARB1 was added gene: SCARB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCARB1 was set to Unknown