Additional findings health related - children
Gene: PCSK9
PCSK9 (proprotein convertase subtilisin/kexin type 9)
EnsemblGeneIds (GRCh38): ENSG00000169174
EnsemblGeneIds (GRCh37): ENSG00000169174
OMIM: 607786, Gene2Phenotype
PCSK9 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000169174
EnsemblGeneIds (GRCh37): ENSG00000169174
OMIM: 607786, Gene2Phenotype
PCSK9 is in 7 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Adult and child
- Familial hypercholesterolaemia
- Transcripts
-
- ENST00000302118.5
- NM_174936.3
- OMIM
- 607786
- Clinvar variants
- Variants in PCSK9
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
20 Apr 2020, Gel status: 3
Set transcript
Eleanor Williams (Genomics England Curator)Transcript for gene PCSK9 was changed from None to ENST00000302118.5; NM_174936.3
20 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: PCSK9 was added gene: PCSK9 was added to Additional findings health related child. Sources: Expert Review Green,Other Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCSK9 were set to Adult and child; Familial hypercholesterolaemia Mode of pathogenicity for gene: PCSK9 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments