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Newborns main panel

Gene: SCARB2

Red List (low evidence)
SCARB2 (scavenger receptor class B member 2)
EnsemblGeneIds (GRCh38): ENSG00000138760
EnsemblGeneIds (GRCh37): ENSG00000138760
OMIM: 602257, Gene2Phenotype
SCARB2 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35346091 - review 29 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • progressive myoclonic epilepsy 4
OMIM
602257
Clinvar variants
Variants in SCARB2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SCARB2. Added phenotypes progressive myoclonic epilepsy 4 for gene: SCARB2 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SCARB2. Added phenotypes progressive myoclonic epilepsy 4 for gene: SCARB2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SCARB2. Added phenotypes progressive myoclonic epilepsy 4 for gene: SCARB2 Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SCARB2 was added gene: SCARB2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARB2 were set to progressive myoclonic epilepsy 4