Additional findings health related - CNV analysis children
Gene: LDLR
LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 9 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Familial hypercholesterolaemia
- Adult and child
- Transcripts
-
- ENST00000558518.5
- NM_000527.4
- OMIM
- 606945
- Clinvar variants
- Variants in LDLR
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Familial hypercholesterolaemia
- Additional findings health related - children
- Additional findings health related - CNV analysis children
- Additional findings health related
- Familial hypercholesterolaemia (GMS)
- COVID-19 research
- Undiagnosed metabolic disorders
History Filter Activity
20 Apr 2020, Gel status: 3
Set transcript
Eleanor Williams (Genomics England Curator)Transcript for gene LDLR was changed from None to ENST00000558518.5; NM_000527.4
20 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: LDLR was added gene: LDLR was added to Additional findings health related child CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Familial hypercholesterolaemia; Adult and child