Lymphoedema_syndromic (Version 0.12)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 48 Entitiess
Green List (high evidence)	ADAMTS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Tags
Green List (high evidence)	BRAF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 115150 Noonan syndrome 7 613706 LEOPARD syndrome 3 613707 Tags
Green List (high evidence)	CBL	0 reviews	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 List (high evidence)	CCBE1	0 reviews	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 Hennekam lymphangiectasia-lymphedema syndrome, 235510 Tags
Green List (high evidence)	FAT4	0 reviews	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 List (high evidence)	FOXC2	0 reviews	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 List (high evidence)	GATA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH UKGTN Phenotypes {Myelodysplastic syndrome, susceptibility to} 614286 Emberger Syndrome 614038 Tags
Green List (high evidence)	GJA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green London South GLH Phenotypes Oculodentodigital dysplasia 164200 Tags
Green List (high evidence)	GJC2	0 reviews	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 List (high evidence)	HRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Costello syndrome 218040 Tags
Green List (high evidence)	IKBKG	0 reviews	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 List (high evidence)	KIF11	1 review 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, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green List (high evidence)	KRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 2 615278 Noonan syndrome 3 609942 Tags
Green List (high evidence)	LZTR1	0 reviews	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 List (high evidence)	MAP2K1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 3 615279 Tags
Green List (high evidence)	MAP2K2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Cardiofaciocutaneous syndrome 4 615280 Tags
Green List (high evidence)	NF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Neurofibromatosis, type 1 162200 Neurofibromatosis-Noonan syndrome 601321 Tags
Green List (high evidence)	NRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 6 613224 Tags
Green List (high evidence)	NSD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Sotos syndrome 1 117550 Tags
Green List (high evidence)	PIEZO1	0 reviews	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 List (high evidence)	PMM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PPP1CB	0 reviews	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 List (high evidence)	PTPN11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 1 163950 LEOPARD syndrome 1 151100 Tags
Green List (high evidence)	PTPN14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Radboud University Medical Center, Nijmegen UKGTN Phenotypes Choanal atresia and lymphedema, 613611 Tags
Green List (high evidence)	RAF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 5 611553 LEOPARD syndrome 2 611554 Tags
Green List (high evidence)	RASA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Capillary malformation-arteriovenous malformation 1 608354 Tags
Green List (high evidence)	RIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 8 615355 Tags
Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green List (high evidence)	SHOC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan-like syndrome with loose anagen hair 607721 Tags
Green List (high evidence)	SOS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 4 610733 Tags
Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Noonan syndrome 9 616559 Tags
Green List (high evidence)	SOX18	0 reviews	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 List (high evidence)	SPRED1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Legius syndrome 611431 Tags
Green List (high evidence)	TSC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Tuberous sclerosis-1 191100 Lymphangioleiomyomatosis 606690 Focal cortical dysplasia, type II, somatic 607341 Tags
Green List (high evidence)	TSC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Lymphangioleiomyomatosis, somatic 606690 ?Focal cortical dysplasia, type II, somatic 607341 Tuberous sclerosis-2 613254 Tags
Green List (high evidence)	VEGFC	0 reviews	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
Red List (low evidence)	ALG8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	ALX3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Frontonasal dysplasia 1 136760 Tags
Red List (low evidence)	AQP1	0 reviews	Unknown	Sources Expert Review Red Literature Phenotypes [Blood group, Colton] 110450 Aquaporin-1 deficiency Tags
Red List (low evidence)	CCDC88A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?PEHO syndrome-like, 617507 Tags
Red List (low evidence)	CDC42	0 reviews	Unknown	Sources Expert Review Red Literature Phenotypes Takenouchi-Kosaki syndrome 616737 Tags
Red List (low evidence)	CHD7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes CHARGE syndrome 214800 Tags
Red List (low evidence)	FBXL7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hennekam syndrome lymphedema Tags
Red List (low evidence)	HGF	0 reviews	Unknown	Sources Expert list Tags
Red List (low evidence)	MET	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	MPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	TTR	0 reviews	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 List (low evidence)	ZNHIT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes PEHO syndrome, 260565 Tags

Lymphoedema_syndromic (Version 0.12)

1 reviewer

48 Entities

6 reviewed, 36 green

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