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 NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Pia Ostergaard (St George's)

    Group: GeCIP domain
    Workplace: Research lab

  • Sahar Mansour (St George's Hospital, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic 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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

51 Entities

51 reviewed, 40 green

List Entity Reviews Mode of inheritance Details
51 Entitiess
Green Green List (high evidence)
ADAMTS3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • Other
  • UKGTN
Phenotypes
  • Hennekam syndrome
  • Hennekam lymphangiectasia-lymphedema syndrome 3
Tags
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome 3 613707
  • Noonan syndrome 7 613706
  • Cardiofaciocutaneous syndrome 115150
Tags
Green Green List (high evidence)
CBL
2 reviews
1 green
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
2 reviews
1 green
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, 235510
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
Tags
Green Green List (high evidence)
CELSR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • hereditary lymphedema
Tags
Green Green List (high evidence)
CHD7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • CHARGE syndrome 214800
Tags
Green Green List (high evidence)
EPHB4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • London South GLH
Phenotypes
  • Lymphatic malformation 7 617300
Tags
Green Green List (high evidence)
FAT4
2 reviews
1 green
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
3 reviews
1 green
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, hereditary, IA 153100
Tags
Green Green List (high evidence)
FOXC2
2 reviews
1 green
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
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • UKGTN
Phenotypes
  • Emberger Syndrome 614038
  • {Myelodysplastic syndrome, susceptibility to} 614286
Tags
Green Green List (high evidence)
GJA1
3 reviews
1 green
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
3 reviews
1 green
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)
HRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Costello syndrome 218040
Tags
Green Green List (high evidence)
IKBKG
4 reviews
1 green
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
3 reviews
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, lymphedema, or mental retardation, MCLMR 152950
Tags
Green Green List (high evidence)
KRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Noonan syndrome 3 609942
  • Cardiofaciocutaneous syndrome 2 615278
Tags
Green Green List (high evidence)
LZTR1
2 reviews
1 green
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
2 reviews
1 green
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiofaciocutaneous syndrome 4 615280
Tags
Green Green List (high evidence)
NF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurofibromatosis-Noonan syndrome 601321
  • Neurofibromatosis, type 1 162200
Tags
Green Green List (high evidence)
NRAS
2 reviews
1 green
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
2 reviews
1 red
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
4 reviews
2 green
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
1 review
1 green
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
2 reviews
1 green
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
2 reviews
1 green
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
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Choanal atresia and lymphedema, 613611
Tags
  • watchlist
Green Green List (high evidence)
RAF1
2 reviews
1 green
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
2 reviews
1 red
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
2 reviews
1 green
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, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Phelan-McDermid syndrome 606232
Tags
Green Green List (high evidence)
SHOC2
2 reviews
1 green
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
2 reviews
1 green
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
2 reviews
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
4 reviews
2 green
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
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Legius syndrome 611431
Tags
Green Green List (high evidence)
TSC1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Lymphangioleiomyomatosis 606690
  • Tuberous sclerosis-1 191100
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Focal cortical dysplasia, type II, somatic 607341
  • Lymphangioleiomyomatosis, somatic 606690
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
VEGFC
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
Phenotypes
  • Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Tags
Amber Amber List (moderate evidence)
DCHS1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London South GLH
  • UKGTN
Phenotypes
  • Van Maldergem syndrome 1, 601390
Tags
  • watchlist
Red Red List (low evidence)
ALG8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
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)
HGF
2 reviews
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
MET
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
MPI
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
TTR
3 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
  • treatable
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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