PanelApp
  1. Panels
  2. Lymphoedema
Description
The panel contains genes associated with nonsyndromic and syndromic lymphoedema.
Panel Activity

5 reviewers

  • Sue White (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

59 Entities

20 reviewed, 45 green

List Entity Reviews Mode of inheritance Details
59 Entitiess
Green Green List (high evidence)
ADAMTS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
Tags
Green Green List (high evidence)
ANGPT2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation-10, MIM#619369
  • Primary lymphoedema
  • Hydrops
Tags
Green Green List (high evidence)
BRAF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Green Green List (high evidence)
CBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Tags
Green Green List (high evidence)
CCBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
Tags
Green Green List (high evidence)
CELSR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 9, MIM# 619319
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • EPHB4-associated vascular malformation spectrum MONDO:0700080
Tags
Green Green List (high evidence)
ERG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 14, MIM# 620602
Tags
Green Green List (high evidence)
FAT4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546
Tags
Green Green List (high evidence)
FLT4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Tags
Green Green List (high evidence)
GATA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • UKGTN
Phenotypes
  • {Myelodysplastic syndrome, susceptibility to} 614286
  • Emberger Syndrome 614038
Tags
Green Green List (high evidence)
GJA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
Phenotypes
  • Oculodentodigital dysplasia 164200
Tags
Green Green List (high evidence)
GJC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
HGF
1 review
1 green 		Unknown
Sources
  • Expert list
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
HRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Costello syndrome 218040
Tags
Green Green List (high evidence)
IKBKG
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Tags
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
  • MONDO:0007918
Tags
Green Green List (high evidence)
KRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 2 615278
  • Noonan syndrome 3 609942
Tags
Green Green List (high evidence)
LZTR1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Schwannomatosis-2, susceptibility to 615670
  • Noonan syndrome 10 616564
Tags
Green Green List (high evidence)
MAP2K1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 3 615279
Tags
Green Green List (high evidence)
MAP2K2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 4 615280
Tags
Green Green List (high evidence)
MDFIC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 12 - MIM#620014
Tags
Green Green List (high evidence)
NF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis-Noonan syndrome 601321
Tags
Green Green List (high evidence)
NRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 6 613224
Tags
Green Green List (high evidence)
NSD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sotos syndrome 1 117550
Tags
Green Green List (high evidence)
PIEZO1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
Phenotypes
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380
  • Lymphatic malformation 6 616843
Tags
Green Green List (high evidence)
PMM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PPP1CB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 2 617506
Tags
Green Green List (high evidence)
PTPN11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 1 163950
  • LEOPARD syndrome 1 151100
Tags
Green Green List (high evidence)
PTPN14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Choanal atresia and lymphedema, 613611
Tags
Green Green List (high evidence)
RAF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 5 611553
  • LEOPARD syndrome 2 611554
Tags
Green Green List (high evidence)
RASA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation 1 608354
Tags
Green Green List (high evidence)
RIT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 8 615355
Tags
Green Green List (high evidence)
SHANK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
  • SV/CNV
Green Green List (high evidence)
SHOC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan-like syndrome with loose anagen hair 607721
Tags
Green Green List (high evidence)
SOS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 4 610733
Tags
Green Green List (high evidence)
SOS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 9 616559
Tags
Green Green List (high evidence)
SOX18
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Tags
Green Green List (high evidence)
SPRED1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Legius syndrome 611431
Tags
Green Green List (high evidence)
TIE1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 11, MIM# 619401
Tags
Green Green List (high evidence)
TSC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-1 191100
  • Lymphangioleiomyomatosis 606690
  • Focal cortical dysplasia, type II, somatic 607341
Tags
Green Green List (high evidence)
TSC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphangioleiomyomatosis, somatic 606690
  • ?Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
UNC45A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteootohepatoenteric syndrome, MIM# 619377
  • Cholestasis
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
Tags
  • 5'UTR
Green Green List (high evidence)
VEGFC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Tags
Amber Amber List (moderate evidence)
ARAF
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphatic malformation, MONDO:0019313, ARAF-related
Tags
Amber Amber List (moderate evidence)
ARAP3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema, MONDO:0019297, ARAP3-related
Tags
Amber Amber List (moderate evidence)
RORC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lymphoedema
Tags
Red Red List (low evidence)
ALG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
ALX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Frontonasal dysplasia 1 136760
Tags
Red Red List (low evidence)
AQP1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • [Blood group, Colton] 110450
  • Aquaporin-1 deficiency
Tags
Red Red List (low evidence)
CCDC88A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?PEHO syndrome-like, 617507
Tags
Red Red List (low evidence)
CDC42
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Takenouchi-Kosaki syndrome 616737
Tags
Red Red List (low evidence)
CHD7
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • CHARGE syndrome 214800
Tags
Red Red List (low evidence)
FBXL7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hennekam syndrome
  • lymphedema
Tags
Red Red List (low evidence)
MET
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
MPI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
TTR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
  • Carpal tunnel syndrome, familial 115430
  • Dystransthyretinemic hyperthyroxinemia 145680
Tags
Red Red List (low evidence)
ZNHIT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • PEHO syndrome, 260565
Tags

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