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Additional findings health related - CNV analysis children

Gene: LDLR

Green List (high evidence)

LDLR (low density lipoprotein receptor)
EnsemblGeneIds (GRCh38): ENSG00000130164
EnsemblGeneIds (GRCh37): ENSG00000130164
OMIM: 606945, Gene2Phenotype
LDLR is in 11 panels

0 reviews

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