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Lipodystrophy_Lipoatrophy (Version 1.17)

Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Lipodystrophy, HP:0009125
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

Lipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.

Lipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.

This panel contains conditions associated with both isolated and syndromic lipodystrophy.
Panel Activity

5 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

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

33 Entities

33 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
33 Entitiess
Green List (high evidence)
AGPAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, MIM# 608594
Tags
Green List (high evidence)
AKT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
Tags
Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900
Tags
Green List (high evidence)
BSCL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 2, MIM# 269700
  • MONDO:0010020
  • Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924
  • MONDO:0014402
Tags
Green List (high evidence)
CAV1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721
  • Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Tags
Green List (high evidence)
CAVIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, MIM# 613327
  • MONDO:0013225
Tags
  • treatable
Green List (high evidence)
EPHX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Tags
Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cockayne syndrome, type B, MIM# 133540
Tags
Green List (high evidence)
ERCC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cockayne syndrome, type B, MIM# 133540
Tags
Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marfan lipodystrophy syndrome, MIM# 616914
Tags
Green List (high evidence)
KCNJ6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572
Tags
Green List (high evidence)
LIPE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 6, 615980
Tags
Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 2, MIM# 151660
Tags
Green List (high evidence)
MTX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
Tags
Green List (high evidence)
OTULIN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Tags
Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880
  • Lipodystrophy
  • insulin resistance
Tags
Green List (high evidence)
PLA2G16
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name
Green List (high evidence)
POLD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
  • MONDO:0014157
Tags
Green List (high evidence)
PPARG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 3, MIM# 604367
  • MONDO:0011448
Tags
Green List (high evidence)
PSMB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
  • MONDO:0054698
Tags
Green List (high evidence)
WRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Werner syndrome, MIM# 277700
  • MONDO:0010196
Tags
Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • MONDO:0012074
Tags
Amber List (moderate evidence)
BANF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nestor-Guillermo progeria syndrome, MIM# 614008
Tags
Amber List (moderate evidence)
BUD13
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lipodystrophy, MONDO:0006573
Tags
Amber List (moderate evidence)
LMNB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Lipodystrophy, partial, acquired, susceptibility to} 608709
Tags
Amber List (moderate evidence)
PCYT1A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 5, MIM# 620680
Tags
Amber List (moderate evidence)
PLIN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 4, MIM# 613877
Tags
  • disputed
Amber List (moderate evidence)
PRIM1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Tags
Amber List (moderate evidence)
PSMB4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Tags
Amber List (moderate evidence)
SPRTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527
Tags
Red List (low evidence)
CIDEC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 5, MIM# 615238
Tags
Red List (low evidence)
MCM7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency
Tags
Red List (low evidence)
SUPT7L
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • lipodystrophy, MONDO:0006573, SUPT7L-related
Tags

Major version comments

  • 2021-04-27 23:31 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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

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