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Dyslipidaemia v0.41 SAR1B Bryony Thompson Marked gene: SAR1B as ready
Dyslipidaemia v0.41 SAR1B Bryony Thompson Gene: sar1b has been classified as Green List (High Evidence).
Dyslipidaemia v0.41 SAR1B Bryony Thompson Classified gene: SAR1B as Green List (high evidence)
Dyslipidaemia v0.41 SAR1B Bryony Thompson Gene: sar1b has been classified as Green List (High Evidence).
Dyslipidaemia v0.40 SAR1B Bryony Thompson gene: SAR1B was added
gene: SAR1B was added to Dyslipidaemia. Sources: Expert list
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 12692552
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
gene: SAR1B was marked as current diagnostic
Added comment: Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Dyslipidaemia v0.39 ANGPTL3 Bryony Thompson Classified gene: ANGPTL3 as Green List (high evidence)
Dyslipidaemia v0.39 ANGPTL3 Bryony Thompson Gene: angptl3 has been classified as Green List (High Evidence).
Dyslipidaemia v0.38 ANGPTL3 Bryony Thompson gene: ANGPTL3 was added
gene: ANGPTL3 was added to Dyslipidaemia. Sources: Expert list
Mode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPTL3 were set to 23150577; 20942659; 22155345; 22062970
Phenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2 MIM#605019
Review for gene: ANGPTL3 was set to GREEN
gene: ANGPTL3 was marked as current diagnostic
Added comment: Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Dyslipidaemia v0.37 STAP1 Bryony Thompson Marked gene: STAP1 as ready
Dyslipidaemia v0.37 STAP1 Bryony Thompson Gene: stap1 has been classified as Red List (Low Evidence).
Dyslipidaemia v0.37 STAP1 Bryony Thompson gene: STAP1 was added
gene: STAP1 was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: STAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAP1 were set to 31809983; 31996024; 32208993
Phenotypes for gene: STAP1 were set to Familial hypercholesterolemia MONDO:0005439
Review for gene: STAP1 was set to RED
Added comment: The gene appears to fulfil the criteria for a refuted gene-disease association
Sources: Literature
Dyslipidaemia v0.36 Zornitza Stark HPO terms changed from to Abnormal circulating lipid concentration, HP:0003119
List of related panels changed from to Abnormal circulating lipid concentration; HP:0003119
Dyslipidaemia v0.35 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Dyslipidaemia v0.35 APOB Zornitza Stark Tag treatable tag was added to gene: APOB.
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Marked gene: ABCG5 as ready
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence).
Dyslipidaemia v0.35 ABCG5 Zornitza Stark Phenotypes for gene: ABCG5 were changed from Sitosterolemia to Sitosterolaemia 2, MIM# 618666
Dyslipidaemia v0.34 ABCG5 Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.34 ABCG5 Zornitza Stark Tag treatable tag was added to gene: ABCG5.
Tag clinical trial tag was added to gene: ABCG5.
Dyslipidaemia v0.34 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib MIM#207750 to Hyperlipoproteinemia, type Ib MIM#207750
Dyslipidaemia v0.33 APOC2 Elena Savva Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib to Hyperlipoproteinemia, type Ib MIM#207750
Dyslipidaemia v0.32 APOC2 Elena Savva Marked gene: APOC2 as ready
Dyslipidaemia v0.32 APOC2 Elena Savva Gene: apoc2 has been classified as Green List (High Evidence).
Dyslipidaemia v0.32 APOC2 Elena Savva Publications for gene: APOC2 were set to
Dyslipidaemia v0.31 APOC2 Elena Savva reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562799, 26044956, 32292609, 32280258; Phenotypes: Hyperlipoproteinemia, type Ib MIM#207750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.31 APOC3 Elena Savva changed review comment from: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol.
Currently in ClinVar as 1x path, 2x likely benign (most recent)

ClinVar: 2 missense variants, submissions >30 years old.; to: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol.
Currently in ClinVar as 1x path, 2x likely benign (most recent)

ClinVar: 2 missense variants, submissions >30 years old.
Dyslipidaemia v0.31 APOC3 Elena Savva Marked gene: APOC3 as ready
Dyslipidaemia v0.31 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Dyslipidaemia v0.31 APOC3 Elena Savva Phenotypes for gene: APOC3 were changed from Apolipoprotein C-III deficiency to Apolipoprotein C-III deficiency MIM#614028
Dyslipidaemia v0.30 APOC3 Elena Savva Publications for gene: APOC3 were set to
Dyslipidaemia v0.30 APOC3 Elena Savva Classified gene: APOC3 as Red List (low evidence)
Dyslipidaemia v0.30 APOC3 Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence).
Dyslipidaemia v0.29 APOC3 Elena Savva reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: PMID: 19074352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dyslipidaemia v0.29 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Dyslipidaemia v0.29 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.29 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836 to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Dyslipidaemia v0.28 APOA1 Zornitza Stark Phenotypes for gene: APOA1 were changed from Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia to Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836
Dyslipidaemia v0.27 APOA1 Zornitza Stark Publications for gene: APOA1 were set to
Dyslipidaemia v0.26 APOA1 Zornitza Stark reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16023124; Phenotypes: Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813
Dyslipidaemia v0.25 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia
Dyslipidaemia v0.24 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia to HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia
Dyslipidaemia v0.23 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Dyslipidaemia v0.22 LDLRAP1 Zornitza Stark reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.22 CREB3L3 Zornitza Stark Phenotypes for gene: CREB3L3 were changed from Hypertriglyceridaemia to Hypertriglyceridaemia-2, MIM#619324
Dyslipidaemia v0.21 CREB3L3 Zornitza Stark Publications for gene: CREB3L3 were set to
Dyslipidaemia v0.20 CREB3L3 Zornitza Stark reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.20 PNLIP Bryony Thompson Marked gene: PNLIP as ready
Dyslipidaemia v0.20 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.20 PNLIP Bryony Thompson Classified gene: PNLIP as Amber List (moderate evidence)
Dyslipidaemia v0.20 PNLIP Bryony Thompson Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition
Dyslipidaemia v0.20 PNLIP Bryony Thompson Gene: pnlip has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.19 PNLIP Bryony Thompson gene: PNLIP was added
gene: PNLIP was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308
Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism
Review for gene: PNLIP was set to GREEN
Added comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.
Sources: Literature
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Marked gene: SCARB1 as ready
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Classified gene: SCARB1 as Amber List (moderate evidence)
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Added comment: Comment on list classification: Benign clinical phenotype
Dyslipidaemia v0.18 SCARB1 Bryony Thompson Gene: scarb1 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.17 SCARB1 Bryony Thompson gene: SCARB1 was added
gene: SCARB1 was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCARB1 were set to 21226579; 30720493; 21480869; 26965621; 27604308
Phenotypes for gene: SCARB1 were set to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias
Review for gene: SCARB1 was set to GREEN
Added comment: Monallelic and biallelic carriers have increased HDL cholesterol levels, but no other clinical phenotype.
Sources: Literature
Dyslipidaemia v0.16 MTTP Bryony Thompson Marked gene: MTTP as ready
Dyslipidaemia v0.16 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Dyslipidaemia v0.16 MTTP Bryony Thompson Classified gene: MTTP as Green List (high evidence)
Dyslipidaemia v0.16 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Dyslipidaemia v0.15 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Dyslipidaemia. Sources: NHS GMS
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308; 8533758; 30720493
Phenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias
Review for gene: MTTP was set to GREEN
gene: MTTP was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism.
Sources: NHS GMS
Dyslipidaemia v0.14 LCAT Bryony Thompson Marked gene: LCAT as ready
Dyslipidaemia v0.14 LCAT Bryony Thompson Gene: lcat has been classified as Green List (High Evidence).
Dyslipidaemia v0.14 LCAT Bryony Thompson Classified gene: LCAT as Green List (high evidence)
Dyslipidaemia v0.14 LCAT Bryony Thompson Gene: lcat has been classified as Green List (High Evidence).
Dyslipidaemia v0.13 LCAT Bryony Thompson gene: LCAT was added
gene: LCAT was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 30720493; 6624548
Phenotypes for gene: LCAT were set to Fish-eye disease MIM#136120; Norum disease MIM#245900; Disorders of high density lipoprotein metabolism
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Biallelic variants cause HDL deficiency.
Sources: Literature
Dyslipidaemia v0.12 CYP27A1 Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence)
Dyslipidaemia v0.12 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.11 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 30720493; 2019602; 20301583
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700
Review for gene: CYP27A1 was set to GREEN
gene: CYP27A1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease, and cases have high plasma and tissue cholestanol concentration, and normal to low plasma cholesterol concentration.
Sources: Literature
Dyslipidaemia v0.10 CETP Bryony Thompson Marked gene: CETP as ready
Dyslipidaemia v0.10 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.10 CETP Bryony Thompson Classified gene: CETP as Amber List (moderate evidence)
Dyslipidaemia v0.10 CETP Bryony Thompson Added comment: Comment on list classification: Benign metabolic condition
Dyslipidaemia v0.10 CETP Bryony Thompson Gene: cetp has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.9 CETP Bryony Thompson gene: CETP was added
gene: CETP was added to Dyslipidaemia. Sources: Literature
Mode of inheritance for gene: CETP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CETP were set to 12070157; 2586614; 27604308; 2215607; 2390095
Phenotypes for gene: CETP were set to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism
Review for gene: CETP was set to GREEN
Added comment: CETP deficiency causes mildly elevated HDL-cholesterol in heterozygotes and elevated HDL-cholesterol in biallelic carriers. Variants are mostly associated with a benign phenotype.
Sources: Literature
Dyslipidaemia v0.8 Bryony Thompson Panel name changed from Hyperlipidaemia to Dyslipidaemia
Dyslipidaemia v0.7 LIPC Bryony Thompson changed review comment from: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS; to: PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS
Dyslipidaemia v0.7 LIPC Bryony Thompson edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447
Dyslipidaemia v0.7 LIPC Bryony Thompson Marked gene: LIPC as ready
Dyslipidaemia v0.7 LIPC Bryony Thompson Gene: lipc has been classified as Green List (High Evidence).
Dyslipidaemia v0.7 LIPC Bryony Thompson Classified gene: LIPC as Green List (high evidence)
Dyslipidaemia v0.7 LIPC Bryony Thompson Gene: lipc has been classified as Green List (High Evidence).
Dyslipidaemia v0.6 LIPC Bryony Thompson gene: LIPC was added
gene: LIPC was added to Hyperlipidaemia. Sources: NHS GMS
Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 1671786; 12777476; 1883393; 23219720; 26423094; 22464213
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency MIM#614025; Inherited mixed hyperlipidaemias; hyperalphalipoproteinemia
Review for gene: LIPC was set to GREEN
Added comment: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMS
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Marked gene: CREB3L3 as ready
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Amber List (moderate evidence)
Dyslipidaemia v0.4 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Dyslipidaemia v0.3 CREB3L3 Bryony Thompson reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694; Phenotypes: Hyperlipidaemia, hypertriglyceridemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.3 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Dyslipidaemia v0.3 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.3 ABCA1 Zornitza Stark Phenotypes for gene: ABCA1 were changed from Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia to Tangier disease, MIM# 205400; HDL deficiency, familial, 1, MIM# 604091
Dyslipidaemia v0.2 ABCA1 Zornitza Stark Publications for gene: ABCA1 were set to
Dyslipidaemia v0.1 ABCA1 Zornitza Stark reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431237, 10431236; Phenotypes: Tangier disease, MIM# 205400, HDL deficiency, familial, 1, MIM# 604091; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dyslipidaemia v0.1 Bryony Thompson Panel name changed from Hyperlipidaemia_RMH to Hyperlipidaemia
Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Dyslipidaemia v0.0 PCSK9 Bryony Thompson gene: PCSK9 was added
gene: PCSK9 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LPL Bryony Thompson gene: LPL was added
gene: LPL was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Dyslipidaemia v0.0 LMF1 Bryony Thompson gene: LMF1 was added
gene: LMF1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Combined lipase deficiency
Dyslipidaemia v0.0 LIPA Bryony Thompson gene: LIPA was added
gene: LIPA was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease
Dyslipidaemia v0.0 LDLRAP1 Bryony Thompson gene: LDLRAP1 was added
gene: LDLRAP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia
Dyslipidaemia v0.0 LDLR Bryony Thompson gene: LDLR was added
gene: LDLR was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to Hypercholesterolemia
Dyslipidaemia v0.0 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID
Dyslipidaemia v0.0 CREB3L3 Bryony Thompson gene: CREB3L3 was added
gene: CREB3L3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREB3L3 were set to Hypertriglyceridaemia
Dyslipidaemia v0.0 APOE Bryony Thompson gene: APOE was added
gene: APOE was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Dyslipidaemia v0.0 APOC3 Bryony Thompson gene: APOC3 was added
gene: APOC3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: APOC3 were set to Apolipoprotein C-III deficiency
Dyslipidaemia v0.0 APOC2 Bryony Thompson gene: APOC2 was added
gene: APOC2 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib
Dyslipidaemia v0.0 APOB Bryony Thompson gene: APOB was added
gene: APOB was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia
Dyslipidaemia v0.0 APOA5 Bryony Thompson gene: APOA5 was added
gene: APOA5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia
Dyslipidaemia v0.0 APOA1 Bryony Thompson gene: APOA1 was added
gene: APOA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA1 were set to Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia
Dyslipidaemia v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Dyslipidaemia v0.0 ABCG8 Bryony Thompson gene: ABCG8 was added
gene: ABCG8 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG8 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCG5 Bryony Thompson gene: ABCG5 was added
gene: ABCG5 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Dyslipidaemia v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to Tangier disease, ABCA1 deficiency, HDL deficiency, Familial hypoalphalipoproteinemia
Dyslipidaemia v0.0 Bryony Thompson Added panel Hyperlipidaemia_RMH