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Familial hypercholesterolaemia (GMS) v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.13 |
Arina Puzriakova Panel name changed from Familial hypercholesterolaemia - targeted panel to Familial hypercholesterolaemia (GMS) List of related panels changed from R134 to Familial hypercholesterolaemia - targeted panel; R134 |
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Familial hypercholesterolaemia (GMS) v1.12 | APOE | Arina Puzriakova Tag Q1_22_MOI was removed from gene: APOE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.12 | APOE | Arina Puzriakova commented on gene: APOE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.11 | APOE |
Arina Puzriakova Source NHS GMS was added to APOE. Mode of inheritance for gene APOE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Familial hypercholesterolaemia (GMS) v1.10 | APOE | Sarah Leigh Tag Q1_22_MOI tag was added to gene: APOE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.10 | APOE | Sarah Leigh edited their review of gene: APOE: Added comment: PMID: 34058468, reviews APOE variants found in primary dyslipidemia. Table 1 lists both monoallelic and biallelic APOE variants associated with hypercholesterolemia.; Changed rating: GREEN; Changed publications to: 34058468; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.10 | APOE | Sarah Leigh Publications for gene: APOE were set to 11095479; 23433584; 24267230; 26802169; 16094309; 22481068; 22949395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) v1.7 | LDLRAP1 | Ivone Leong Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, 4, OMIM:603813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.6 | LDLR | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with LDL cholesterol level QTL2, 143890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.6 | LDLR | Ivone Leong Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial to Hypercholesterolemia, familial, 1, OMIM:143890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.5 | APOE | Ivone Leong Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347 to Hyperlipoproteinemia, type III, OMIM:617347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.4 | APOB | Ivone Leong Phenotypes for gene: APOB were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia, familial, 2, 144010; Hypercholesterolemia to Hypercholesterolemia, familial, 2, OMIM:144010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.3 | Rebecca Foulger Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.2 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.7 | Ellen McDonagh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.6 | Ellen McDonagh List of related panels changed from to R134 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.5 | LDLRAP1 | Rebecca Foulger Phenotypes for gene: LDLRAP1 were changed from Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 to Hypercholesterolemia, familial, autosomal recessive; Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.4 | LDLR | Rebecca Foulger Phenotypes for gene: LDLR were changed from LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890 to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890; C3 Hypercholesterolemia, familial | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.3 | PCSK9 | Rebecca Foulger commented on gene: PCSK9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.3 | LDLR | Rebecca Foulger commented on gene: LDLR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.3 | APOB | Rebecca Foulger commented on gene: APOB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial hypercholesterolaemia (GMS) v0.2 | Rebecca Foulger Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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Familial hypercholesterolaemia (GMS) v0.1 | LDLRAP1 |
Rebecca Foulger gene: LDLRAP1 was added gene: LDLRAP1 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: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 12417523 Phenotypes for gene: LDLRAP1 were set to Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia; Hypercholesterolemia, familial, 4, 603813 |
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Familial hypercholesterolaemia (GMS) v0.1 | LDLR |
Rebecca Foulger gene: LDLR was added gene: LDLR 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: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LDLR were set to 17142622; 25414277; 23433573 Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2, 143890; Familial Hypercholesterolaemia; Hypercholesterolemia; Familial Hypercholesterolemia; Hypercholesterolemia, familial, 1, 143890 |
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Familial hypercholesterolaemia (GMS) v0.1 | APOE |
Rebecca Foulger gene: APOE was added gene: APOE was added to Familial hypercholesterolaemia - targeted panel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: APOE were set to 11095479; 23433584; 24267230; 26802169; 16094309; 22481068; 22949395 Phenotypes for gene: APOE were set to Hyperlipoproteinemia, type III 617347 |
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Familial hypercholesterolaemia (GMS) v0.1 | APOB |
Rebecca Foulger gene: APOB was added gene: APOB 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: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOB were set to 8141833; 25414277; 23433573 Phenotypes for gene: APOB were set to Familial Hypercholesterolemia; Familial Hypercholesterolaemia; Hypercholesterolemia, familial, 2, 144010; Hypercholesterolemia Mode of pathogenicity for gene: APOB 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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Familial hypercholesterolaemia (GMS) v0.0 |
Rebecca Foulger Added Panel Familial hypercholesterolaemia - targeted panel Set panel types to: GMS Rare Disease |