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Familial hypercholesterolaemia v1.28 APOB Arina Puzriakova Phenotypes for gene: APOB were changed from Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013); Gene part of the 6-SNP LDL-C gene score calculation (Futema et al, 2015); Ag linked Hypobetalipoproteinemia; Hypobetalipoproteinemia, normotriglyceridemic; Hypercholesterolemia, due to ligand-defective apo B, 144010; Familial Hypercholesterolemia; Hypercholesterolemia; Familial Hypercholesterolaemia to Hypercholesterolemia, familial, 2, OMIM:144010
Familial hypercholesterolaemia v1.27 LDLR Sarah Leigh Publications for gene: LDLR were set to PMID: 23433573; 25414277
Familial hypercholesterolaemia v1.26 Rebecca Foulger Panel types changed to Rare Disease 100K
Familial hypercholesterolaemia v1.25 APOB Sarah Leigh commented on gene: APOB
Familial hypercholesterolaemia v1.25 CYP27A1 Sarah Leigh Classified gene: CYP27A1 as Green List (high evidence)
Familial hypercholesterolaemia v1.25 CYP27A1 Sarah Leigh Added comment: Comment on list classification: This gene is rated as green as Tendon xanthomas are a feature of Cerebrotendinous xanthomatosis, 213700, which could lead to patients being investigated for FH.
Familial hypercholesterolaemia v1.25 CYP27A1 Sarah Leigh Gene: cyp27a1 has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v1.24 APOE Sarah Leigh Added comment: Comment on phenotypes: Including hypercholesterolaemia
Familial hypercholesterolaemia v1.24 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Autosomal dominant hypercholesterolaemia to Hyperlipoproteinemia, type III 617347
Familial hypercholesterolaemia v1.23 CYP27A1 Sarah Leigh Publications for gene: CYP27A1 were set to
Familial hypercholesterolaemia v1.22 APOE Sarah Leigh Publications for gene: APOE were set to PMID: 23433584; 22949395; 26802169
Familial hypercholesterolaemia v1.21 CYP27A1 Philip Dawson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24442603: 29484516; Phenotypes: Cerebrotendinous xanthomatosis, 213700, Tendon Xanthomas, suspected FH; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v1.21 APOE Simon Thomas reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hypercholesterolaemia v1.20 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Familial hypercholesterolaemia APOE Helen Brittain classified APOE as Green List (high evidence)
Familial hypercholesterolaemia APOE Helen Brittain reviewed APOE
Familial hypercholesterolaemia LIPA Sarah Leigh classified LIPA as green
Familial hypercholesterolaemia LIPA Sarah Leigh commented on LIPA
Familial hypercholesterolaemia LIPA Sarah Leigh edited their review of LIPA
Familial hypercholesterolaemia LIPA Sarah Leigh reviewed LIPA
Familial hypercholesterolaemia APOC2 Sarah Leigh marked APOC2 as ready
Familial hypercholesterolaemia APOA5 Sarah Leigh edited their review of APOA5
Familial hypercholesterolaemia APOA5 Sarah Leigh commented on APOA5