Additional findings health related
Gene: LDLRComment on phenotypes: Clinically relevant transcript NM_000527.4Created: 21 May 2018, 3:53 p.m.
Transcript for gene LDLR was changed from ENST00000558518.5 to ENST00000558518.5; NM_000527.4
Source Additional Findings was removed from LDLR. Source ACMG was removed from LDLR. Source Expert list was added to LDLR. Phenotypes for gene: LDLR were changed from ENST00000558518.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene LDLR was changed from None to ENST00000558518.5
Phenotypes for gene: LDLR were changed from NM_000527.4; Familial hypercholesterolaemia; Adult and child to ENST00000558518.5; Familial hypercholesterolaemia; Adult and child
Phenotypes for LDLR were set to NM_000527.4; Familial hypercholesterolaemia; Adult and child
Phenotypes for LDLR were set to Familial hypercholesterolaemia; Adult and child
Mode of inheritance for LDLR was changed from Other - please specify in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
LDLR was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
LDLR was created by Ellen McDonagh