PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
132 actions
Dyslipidaemia v0.51 CREB3L3 Bryony Thompson Publications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694
Dyslipidaemia v0.50 CREB3L3 Bryony Thompson Classified gene: CREB3L3 as Green List (high evidence)
Dyslipidaemia v0.50 CREB3L3 Bryony Thompson Gene: creb3l3 has been classified as Green List (High Evidence).
Dyslipidaemia v0.49 CREB3L3 Bryony Thompson edited their review of gene: CREB3L3: Added comment: Recent studies expand the evidence base for CREB3L3. PMID 34491909 adds a cohort of ten unrelated adults with heterozygous loss‑of‑function or missense CREB3L3 variants who present with severe adult‑onset hypertriglyceridemia, detailed lipoprotein profiling, and mouse‑model rescue of the lipid phenotype. PMID 41099101 reports six additional heterozygous CREB3L3 carriers among patients with multifactorial chylomicronemia syndrome.; Changed rating: GREEN; Changed publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694, 41099101, 34491909
Dyslipidaemia v0.49 Bryony Thompson Added reviews for gene CREB3L3 from panel Mendeliome
Dyslipidaemia v0.48 Bryony Thompson Copied gene CELA2A from panel Mendeliome
Dyslipidaemia v0.48 CELA2A Bryony Thompson gene: CELA2A was added
gene: CELA2A was added to Dyslipidaemia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CELA2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELA2A were set to 31358993
Phenotypes for gene: CELA2A were set to abdominal obesity-metabolic syndrome 4 MONDO:0032837
Dyslipidaemia v0.46 PNLIP Zornitza Stark Classified gene: PNLIP as Green List (high evidence)
Dyslipidaemia v0.46 PNLIP Zornitza Stark Gene: pnlip has been classified as Green List (High Evidence).
Dyslipidaemia v0.45 PNLIP Zornitza Stark reviewed gene: PNLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40840699; Phenotypes: Pancreatic lipase deficiency MIM#614338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.45 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dyslipidaemia v0.44 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dyslipidaemia v0.43 APOA1 Chirag Patel Mode of inheritance for gene: APOA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dyslipidaemia v0.42 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
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