Severe hypertriglyceridaemia
Gene: CELSR2
CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000143126
EnsemblGeneIds (GRCh37): ENSG00000143126
OMIM: 604265, Gene2Phenotype
CELSR2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000143126
EnsemblGeneIds (GRCh37): ENSG00000143126
OMIM: 604265, Gene2Phenotype
CELSR2 is in 2 panels
1 review
Sarah Leigh (Genomics England Curator)
17 years old male with 1000 mg/dl of triglycerides before treatment with fibrates and pancreatitis. Single heterozygous variant in LPL and another in CELSR2. No identifiable variants in APOAV, APOAIV, APOCII, APOCIII, GPD1, GPIHBP1 (personal communication from Mafalda Bourbon, Lisbon, Portugal [email protected])Created: 5 Jun 2017, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
hypertriglyceridaemia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- hypertriglyceridaemia
- OMIM
- 604265
- Clinvar variants
- Variants in CELSR2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
5 Jun 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)CELSR2 was added to Severe hypertriglyceridaemiapanel. Sources: Other
5 Jun 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)CELSR2 was created by sleigh