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| Familial hypercholesterolaemia (GMS) v1.9 | GCKR |
Sarah Leigh gene: GCKR was added gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439 Review for gene: GCKR was set to RED Added comment: Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9. Sources: Other |
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| Familial hypercholesterolaemia (GMS) v1.8 | PCSK9 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with {Low density lipoprotein cholesterol level QTL 1}, 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia (GMS) v1.8 | PCSK9 | Ivone Leong Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3, 603776; Familial Hypercholesterolaemia; Hypercholesterolemia; {Low density lipoprotein cholesterol level QTL 1}, 603776; Familial Hypercholesterolemia to Hypercholesterolemia, familial, 3, OMIM:603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia (GMS) v0.3 | PCSK9 | Rebecca Foulger commented on gene: PCSK9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia (GMS) v0.1 | PCSK9 |
Rebecca Foulger gene: PCSK9 was added gene: PCSK9 was added to Familial hypercholesterolaemia - targeted panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 16224054; 23433573 Phenotypes for gene: PCSK9 were set to Hypercholesterolemia, familial, 3, 603776; Familial Hypercholesterolaemia; Hypercholesterolemia; {Low density lipoprotein cholesterol level QTL 1}, 603776; Familial Hypercholesterolemia 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 |
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