Description
A combined panel designed to cover the following lymphatic disorders:
- Meige disease (34328) (replacing the previous Meiges disease gene panel version 1.18)
- Milroy disease (37604)
- Lymphoedema distichiasis (37612)
- Lipoedema disease (55456)
- Primary lymphoedema (55517)


See individual eligibility statements for these disorders at:  https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

5 reviewers

  • Pia Ostergaard (St George's)

    Group: GeCIP domain
    Workplace: Research lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

22 Entities

22 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
CCBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Autosomal Dominant Lymphatic Related Hydrops Fetalis
Tags
Green Green List (high evidence)
FAT4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546
Tags
Green Green List (high evidence)
FLT4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Lymphedema, hereditary, IA 153100
Tags
Green Green List (high evidence)
FOXC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • 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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038
Tags
Green Green List (high evidence)
GJA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculodentodigital dysplasia with primary lymphoedem 164200
Tags
Green Green List (high evidence)
GJC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
IKBKG
3 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Tags
Green Green List (high evidence)
KIF11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950
Tags
Green Green List (high evidence)
PIEZO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphedema, hereditary, III 616843
  • Generalised lymphatic dysplasia
Tags
Green Green List (high evidence)
PTPN14
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Choanal atresia and lymphedema, 613611
Tags
  • watchlist
Green Green List (high evidence)
SOX18
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Tags
Green Green List (high evidence)
VEGFC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Tags
Amber Amber List (moderate evidence)
ADAMTS3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • UKGTN
Phenotypes
  • Hennekam syndrome
  • Hennekam lymphangiectasia-lymphedema syndrome 3
Tags
  • watchlist
Amber Amber List (moderate evidence)
DCHS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Van Maldergem syndrome 1, 601390
Tags
  • watchlist
Red Red List (low evidence)
ALX3
2 reviews
1 red
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
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Aquaporin-1 deficiency
  • [Blood group, Colton] 110450
Tags
Red Red List (low evidence)
CCDC88A
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?PEHO syndrome-like, 617507
Tags
Red Red List (low evidence)
CDC42
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Takenouchi-Kosaki syndrome 616737
Tags
Red Red List (low evidence)
TTR
2 reviews
1 red
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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • PEHO syndrome, 260565
Tags
  • founder-effect

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