PanelApp (staging)
  1. Panels
  2. Familial hypercholesterolaemia
Description
This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:
Characterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:
(a) for whom no familial mutation has been identified; and
(b) who has any of the following:
·         (i) a Dutch Lipid Clinic Network score of at least 6;
·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;
·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis

Please also refer to the Dyslipidaemia panel.
Panel Activity

7 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

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

12 Entities

12 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
ABCG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolaemia 2, MIM# 618666
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ABCG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sitosterolemia MONDO:0008863
Tags
Green Green List (high evidence)
APOB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
Tags
  • treatable
Green Green List (high evidence)
APOE
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperlipoproteinemia, type III (MIM#617347)
  • Sea-blue histiocyte disease (MIM#269600)
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrotendinous xanthomatosis MONDO:0008948
Tags
Green Green List (high evidence)
LDLR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 1 143890
Tags
Green Green List (high evidence)
LDLRAP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercholesterolemia, familial, 4, MIM# 603813
Tags
Green Green List (high evidence)
LIPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
  • Lysosomal acid lipase deficiency, MONDO:0010204
Tags
Green Green List (high evidence)
LPL
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined hyperlipidemia, familial, MIM# 144250
Tags
Green Green List (high evidence)
PCSK9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hypercholesterolemia, autosomal dominant, 3 MONDO:0011369
Tags
Amber Amber List (moderate evidence)
CAV3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 2 606072
Tags
Red Red List (low evidence)
SLC25A13
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Citrullinemia, adult-onset type II, MIM#603471
  • Citrullinemia, type II, neonatal-onset, MIM#605814
Tags

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