Familial hypercholesterolaemia

Gene: CELSR2

Red List (low evidence)

CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000143126
EnsemblGeneIds (GRCh37): ENSG00000143126
OMIM: 604265, Gene2Phenotype
CELSR2 is in 2 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)
  • Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015)
OMIM
604265
Clinvar variants
Variants in CELSR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CELSR2 was added to Familial hypercholesterolaemiapanel. Sources: Eligibility statement prior genetic testing