Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R136 Primary lymphoedema' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R136 Primary lymphoedema'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

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

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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