1. Panels
  2. Dyslipidaemia

Dyslipidaemia (Version 0.42)

Level 2: Endocrine disorders

Relevant disorders: Abnormal circulating lipid concentration, HP:0003119
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.
Panel Activity

3 reviewers

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

28 Entities

18 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
28 Entitiess
Green List (high evidence)
ABCA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tangier disease, MIM# 205400
  • HDL deficiency, familial, 1, MIM# 604091
Tags
Green List (high evidence)
ABCG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sitosterolaemia 2, MIM# 618666
Tags
  • clinical trial
  • treatable
Green List (high evidence)
ABCG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sitosterolemia
Tags
Green List (high evidence)
ALMS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alstrom syndrome
Tags
Green List (high evidence)
ANGPTL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypobetalipoproteinemia, familial, 2 MIM#605019
Tags
Green List (high evidence)
APOA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Tags
Green List (high evidence)
APOA5
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperchylomicronemia
Tags
Green List (high evidence)
APOB
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypobetalipoproteinemia, Hypercholesterolemia
Tags
  • treatable
Green List (high evidence)
APOC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperlipoproteinemia, type Ib MIM#207750
Tags
Green List (high evidence)
APOE
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Tags
Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebrotendinous xanthomatosis MIM#213700
Tags
Green List (high evidence)
GPIHBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hyperlipoproteinemia, type ID
Tags
Green List (high evidence)
LCAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fish-eye disease MIM#136120
  • Norum disease MIM#245900
  • Disorders of high density lipoprotein metabolism
Tags
Green List (high evidence)
LDLR
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypercholesterolemia
Tags
Green List (high evidence)
LDLRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypercholesterolemia, familial, 4, MIM# 603813
Tags
Green List (high evidence)
LIPA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Wolman disease, Cholesterol ester storage disease
Tags
Green List (high evidence)
LIPC
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hepatic lipase deficiency MIM#614025
  • Inherited mixed hyperlipidaemias
  • hyperalphalipoproteinemia
Tags
Green List (high evidence)
LMF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Combined lipase deficiency
Tags
Green List (high evidence)
LPL
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Tags
Green List (high evidence)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia MIM#200100
  • Inherited hypolipidaemias
Tags
  • treatable
Green List (high evidence)
PCSK9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hypercholesterolemia
Tags
Green List (high evidence)
SAR1B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chylomicron retention disease, MIM# 246700
Tags
Amber List (moderate evidence)
CETP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperalphalipoproteinemia MIM#143470
  • Disorders of high density lipoprotein metabolism
Tags
Amber List (moderate evidence)
CREB3L3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Hypertriglyceridaemia-2, MIM#619324
Tags
Amber List (moderate evidence)
PNLIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pancreatic lipase deficiency MIM#614338
  • disorders of lipid and lipoprotein metabolism
Tags
Amber List (moderate evidence)
SCARB1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • High density lipoprotein cholesterol level QTL6 MIM#610762
  • Scavenger receptor class B type I deficiency
  • Inherited hypolipidaemias
Tags
Red List (low evidence)
APOC3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Apolipoprotein C-III deficiency MIM#614028
Tags
Red List (low evidence)
STAP1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial hypercholesterolemia MONDO:0005439
Tags

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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