PanelApp (test)
  1. Panels
  2. Lipodystrophy_Lipoatrophy
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

6 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Sinead OSullivan (Genetic Health Queensland)

  • Lauren Rogers (Victorian Clinical Genetics Services)

39 Entities

39 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
39 Entitiess
Green Green List (high evidence)
ABL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Congenital heart defects and skeletal malformations syndrome (MIM# 617602)
Tags
Green Green List (high evidence)
AGPAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, congenital generalized, type 1, MIM# 608594
Tags
Green Green List (high evidence)
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Bloom syndrome, MIM# 210900
Tags
Green Green List (high evidence)
BSCL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, congenital generalized, type 2, MIM# 269700
  • MONDO:0010020
  • Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924
  • MONDO:0014402
Tags
Green Green List (high evidence)
CAV1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721
  • Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Tags
Green Green List (high evidence)
CAVIN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, congenital generalized, type 4, MIM# 613327
  • MONDO:0013225
Tags
  • treatable
Green Green List (high evidence)
EPHX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Tags
Green Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cockayne syndrome, type B, MIM# 133540
Tags
Green Green List (high evidence)
ERCC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cockayne syndrome, type B, MIM# 133540
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Marfan lipodystrophy syndrome, MIM# 616914
Tags
Green Green List (high evidence)
KCNJ6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Keppen-Lubinsky syndrome, MIM# 614098
  • MONDO:0013572
Tags
Green Green List (high evidence)
LIPE
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • LIPE-related familial partial lipodystrophy, MONDO:0014431
Tags
Green Green List (high evidence)
LMNA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, familial partial, type 2, MIM# 151660
Tags
Green Green List (high evidence)
MFN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Disease associations
  • Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153
Tags
Green Green List (high evidence)
MTX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
Tags
Green Green List (high evidence)
OTULIN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • SHORT syndrome, MIM# 269880
  • Lipodystrophy
  • insulin resistance
Tags
Green Green List (high evidence)
PLAAT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Lipodystrophy, familial partial, type 9, MIM# 620683
Tags
  • new gene name
Green Green List (high evidence)
PLIN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • PLIN1-related familial partial lipodystrophy, MONDO:0013478
Tags
Green Green List (high evidence)
POC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Ciliopathy, MONDO:0005308, POC5-related
Tags
Green Green List (high evidence)
POLD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381
  • MONDO:0014157
Tags
Green Green List (high evidence)
PPARG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, familial partial, type 3, MIM# 604367
  • MONDO:0011448
Tags
Green Green List (high evidence)
PSMB8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
  • MONDO:0054698
Tags
Green Green List (high evidence)
WRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Werner syndrome, MIM# 277700
  • MONDO:0010196
Tags
Green Green List (high evidence)
ZMPSTE24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612
  • MONDO:0012074
Tags
Amber Amber List (moderate evidence)
BANF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Nestor-Guillermo progeria syndrome, MIM# 614008
Tags
Amber Amber List (moderate evidence)
BUD13
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Achalasia-progeroid syndrome, MIM# 621123
Tags
Amber Amber List (moderate evidence)
EBF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Lipodystrophy, MONDO:0006573, EBF2-related
Tags
Amber Amber List (moderate evidence)
LMNB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • {Lipodystrophy, partial, acquired, susceptibility to} 608709
Tags
Amber Amber List (moderate evidence)
NOTCH3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Lipodystrophy, familial partial, type 1, MIM#608600
Tags
Amber Amber List (moderate evidence)
PCYT1A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, congenital generalized, type 5, MIM# 620680
Tags
Amber Amber List (moderate evidence)
PRIM1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Tags
Amber Amber List (moderate evidence)
PSMB4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Tags
Amber Amber List (moderate evidence)
SPRTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Ruijs-Aalfs syndrome, MIM# 616200
  • MONDO:0014527
Tags
Red Red List (low evidence)
ADRA2A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Disease associations
  • Lipodystrophy, familial partial, type 8, OMIM #620679
Tags
Red Red List (low evidence)
AKT2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • AKT2-related familial partial lipodystrophy MONDO:0019192
Tags
Red Red List (low evidence)
CIDEC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Lipodystrophy, familial partial, type 5, MIM# 615238
Tags
Red Red List (low evidence)
MCM7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Syndromic disease, MONDO:0002254, MCM7-related
  • Meier-Gorlin syndrome
  • Microcephaly
  • Intellectual disability
  • Lipodystrophy
  • Adrenal insufficiency
Tags
Red Red List (low evidence)
SUPT7L
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Fischer-Zirnsak progeroid syndrome, MIM# 621130
Tags

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