Description
Inclusion criteria
• Non-congenital lower limb lymphoedema
• Multiple affected individuals in the pedigree with family history consistent with autosomal dominant inheritance
• Lymphoscintigram (where available) suggestive of deep rerouting with the presence of popliteal nodes

Exclusion criteria
• Congenital lymphoedema
• Lymphoedema of any other segment (e.g. hands/arms/face/genitalia)
• Systemic lymphoedema (e.g. intestinal or pulmonary lymphangiectasia, pleural or pericardial effusions)
• No family history of lymphoedema
• Syndromic lymphoedema including any major structural malformations
• Distichiasis (aberrant eyelashes arising from the meibomian glands)

Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:

These requirements will be kept under continual review during the main programme and may be subject to change.

3 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

14 Entities

14 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
14 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)
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
  • 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
  • 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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Primary Lymphedema with Myelodysplasia
  • Immunodeficiency 21
  • Leukemia, Acute Myeloid
  • Lymphedema, Primary, With Myelodysplasia
  • Myelodysplastic Syndrome
  • GATA2 Deficiency
  • Primary Lymphedema with Myelodysplasia, Emberger syndrome 614038
  • Immunodeficiency 21 614172
  • Leukemia, Acute Myeloid susceptibility to 601626
  • Myelodysplastic Syndrome usceptibility to 614286
Tags
Green Green List (high evidence)
GJA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • oculodentodigital syndrome with primary lymphoedem
  • Oculodentodigital dysplasia 164200
Tags
Green Green List (high evidence)
GJC2
1 review
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
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Incontinentia pigmenti, type II, 308300
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Immunodeficiency, isolated, 300584
  • {Atypical mycobacterio
  • Ectodermal dysplasia, anhidrotic with immunodeficiency, osteopetrosis and lymphedema
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency
  • Immunodeficiency 33 300636
  • Incontinentia pigmenti 308300
Tags
Green Green List (high evidence)
KIF11
1 review
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Primary Lymphoedema, Generalised lymphatic dysplasia
  • Lymphedema, hereditary, III 616843
Tags
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Primary Lymphoedema, Milroy-like
  • Lymphedema, hereditary, ID 615907
Tags
Red Red List (low evidence)
EPHB4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Autosomal Dominant Lymphatic Related Hydrops Fetalis
Tags
Red Red List (low evidence)
PTPN14
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Choanal atresia and lymphedema, 613611
Tags

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