Additional findings health related
Gene: PCSK9Comment on phenotypes: Clinically relevant transcript NM_174936.3Created: 21 May 2018, 3:58 p.m.
Transcript for gene PCSK9 was changed from ENST00000302118.5 to ENST00000302118.5; NM_174936.3
Source Additional Findings was removed from PCSK9. Source ACMG was removed from PCSK9. Source Other was added to PCSK9. Phenotypes for gene: PCSK9 were changed from ENST00000302118.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene PCSK9 was changed from None to ENST00000302118.5
Phenotypes for gene: PCSK9 were changed from NM_174936.3; Familial hypercholesterolaemia; Adult and child to ENST00000302118.5; Familial hypercholesterolaemia; Adult and child
Phenotypes for PCSK9 were set to NM_174936.3; Familial hypercholesterolaemia; Adult and child
Phenotypes for PCSK9 were set to Familial hypercholesterolaemia; Adult and child
Mode of pathogenicity for PCSK9 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
PCSK9 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
PCSK9 was created by Ellen McDonagh