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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
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
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
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
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
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
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
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
Familial hypercholesterolaemia (GMS) v0.0 Rebecca Foulger Added Panel Familial hypercholesterolaemia - targeted panel
Set panel types to: GMS Rare Disease