Primary lymphoedema (Version 3.11)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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

Panel Activity

12 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: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Andrew Mumford (University of Bristol)

Group: GeCIP domain
Workplace: Research lab

57 Entities

57 reviewed, 39 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 57 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 lymphangiectasia-lymphedema syndrome 3, OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 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 1, OMIM:235510 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 Lymphatic malformation 9, OMIM:619319 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, OMIM: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, OMIM: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 and immunodeficiency 1, OMIM:300291 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	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South GLH Phenotypes Lymphatic malformation 6, OMIM: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	6 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)	ANGPT2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphatic malformation 10 OMIM:619369 lymphatic malformation 10 MONDO:0023662 Tags
Amber Amber List (moderate evidence)	ARAP3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphoedema, MONDO:0019297 Tags watchlist
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, OMIM:601390 Tags watchlist
Amber Amber List (moderate evidence)	ERG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Research Phenotypes primary lymphoedema, MONDO:0019175 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	RORC	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphoedema, MONDO:0019297 Tags watchlist
Amber Amber List (moderate evidence)	TIE1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphatic malformation 11, OMIM:619401 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)	CHD7	3 reviews 1 green 2 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	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hennekam syndrome lymphoedema 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 Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 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

Major version comments

2022-11-30 14:52 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-10-02 14:10 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.122) was signed off under NHS Genomic Medicine Service governance on (02/10/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

A combined panel for lymphatic disorders
- Meiges disease
- Milroy disease
- Lymphoedema distichiasis
Promoted to V1 02/11/2016

Primary lymphoedema (Version 3.11)

12 reviewers

57 Entities

57 reviewed, 39 green

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