Vascular Malformations SuperPanel (Version 1.64)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 180 Entitiess
Green List (high evidence)	ACTB Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Becker nevus, somatic mosaic, MIM# 604919 Tags somatic
Green List (high evidence)	ACVRL1 Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 (600376) Tags
Green List (high evidence)	ACVRL1 Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes cerebral pulmonary arteriovenous malformation pulmonary arteriovenous malformation hepatic arteriovenous malformation epistaxis pulmonary arterial hypertension Telangiectasia, hereditary hemorrhagic, type 2 600376 telangiectasia Tags
Green List (high evidence)	ADAMTS3 Lymphoedema_nonsyndromic v0.44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Tags
Green List (high evidence)	ADAMTS3 Lymphoedema_syndromic v0.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 3 (618154) Tags
Green List (high evidence)	AKT1 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Cowden syndrome 6 615109 Proteus syndrome, somatic 176920 Tags somatic
Green List (high evidence)	AKT1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Proteus syndrome, somatic 176920 Tags somatic
Green List (high evidence)	AKT3 Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937) Tags
Green List (high evidence)	AKT3 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephaly syndromes Tags somatic
Green List (high evidence)	AKT3 Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Tags
Green List (high evidence)	ANGPT2 Lymphoedema_nonsyndromic v0.44	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation-10, MIM#619369 Primary lymphoedema Hydrops Tags
Green List (high evidence)	ATM Vascular Malformations_Germline v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Green List (high evidence)	ATP2A2 Mosaic skin disorders v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Darier disease, MIM# 124200 Tags somatic
Green List (high evidence)	BRAF Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Sporadic vascular malformations Tags somatic
Green List (high evidence)	BRAF Mosaic skin disorders v1.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Melanocytic naevus syndrome (MONDO:0044792 MIM#137550) Tags
Green List (high evidence)	BRAF Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Cardiofaciocutaneous syndrome 115150 Noonan syndrome 7 613706 LEOPARD syndrome 3 613707 Tags
Green List (high evidence)	CBL Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Tags
Green List (high evidence)	CCBE1 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CCBE1 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources London South GLH Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hennekam Lymphangiectasia-Lymphedema Syndrome Hennekam lymphangiectasia-lymphedema syndrome, 235510 Tags
Green List (high evidence)	CELSR1 Lymphoedema_nonsyndromic v0.44	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 9, MIM# 619319 Tags
Green List (high evidence)	ELMO2 Vascular Malformations_Germline v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Phenotypes Vascular malformation, primary intraosseous, MIM#606893 Tags
Green List (high evidence)	ENG Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epistaxis (HP:0000421) Spinal arteriovenous malformation (HP:0002390) Tongue telangiectasia (HP:0000227) Telangiectasia, hereditary hemorrhagic, type 1, 187300 Cerebral arteriovenous malformation (HP:0002408) Palate telangiectasia (HP:0002707) Hepatic arteriovenous malformation (HP:0006574 Lip telangiectasia (HP:0000214) Arteriovenous malformation (HP:0100026) Nasal mucosa telangiectasia (HP:0000434) Pulmonary arteriovenous malformation (HP:0006548) ) Finger pad telangiectasia (pulp not nail side) Gastrointestinal telangiectasia (HP:0002604) Tags
Green List (high evidence)	ENG Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 (600376) Tags
Green List (high evidence)	EPHB4 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	EPHB4 Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Capillary malformation-arteriovenous malformation 2, MIM#618196 Tags
Green List (high evidence)	ERG Lymphoedema_nonsyndromic v0.44	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 14, MIM# 620602 Tags
Green List (high evidence)	FAT4 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	FAT4 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen London South GLH Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 Van Maldergem syndrome 2, 615546 Tags
Green List (high evidence)	FGFR1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Epidermal naevi Tags somatic
Green List (high evidence)	FGFR2 Mosaic skin disorders v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Keratinocytic epidermal naevi Tags somatic
Green List (high evidence)	FGFR3 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Epidermal naevi Syringocystadenoma papilliferum Tags somatic
Green List (high evidence)	FLT4 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	FOXC2 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	FOXC2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London South GLH Expert Review Green UKGTN Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Phenotypes Lymphedema-distichiasis syndrome, 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Tags
Green List (high evidence)	GATA2 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GATA2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services London South GLH Phenotypes {Myelodysplastic syndrome, susceptibility to} 614286 Emberger Syndrome 614038 Tags
Green List (high evidence)	GDF2 Vascular Malformations_Germline v1.12	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Telangiectasia, hereditary hemorrhagic, type 5 615506 pulmonary arteriovenous malformations Tags
Green List (high evidence)	GJA1 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GJA1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Expert list Phenotypes Oculodentodigital dysplasia 164200 Tags
Green List (high evidence)	GJA4 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes Cavernous hemangioma Tags somatic
Green List (high evidence)	GJC2 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GJC2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen London South GLH Phenotypes Lymphedema, hereditary, IC, 613480 Tags
Green List (high evidence)	GLMN Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Glomuvenous malformations (138000) Tags
Green List (high evidence)	GLMN Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glomuvenous malformations, MIM# 138000 Tags
Green List (high evidence)	GNA11 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Somatic hemangioma Phacomatosis pigmentovascularis, somatic Tags somatic
Green List (high evidence)	GNA11 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Extensive dermal melanocytosis Phakomatosis pigmentovascularis Tags somatic
Green List (high evidence)	GNA14 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Kaposiform endothelioma Tufted angioma Tags somatic
Green List (high evidence)	GNA14 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Tufted angioma vascular tumours Anastomosing hemangioma Tags somatic
Green List (high evidence)	GNAQ Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Extensive dermal melanocytosis Sturge Weber syndrome Phakomatosis pigmentovascularis Tags somatic
Green List (high evidence)	GNAQ Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Green List (high evidence)	GNAS Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes McCune-Albright syndrome Tags somatic
Green List (high evidence)	HGF Lymphoedema_nonsyndromic v0.44	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphoedema, MONDO:0019297, HGF-related Tags
Green List (high evidence)	HRAS Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Vascular malformation/overgrowth syndromes Extracranial arteriovenous malformations Tags somatic
Green List (high evidence)	HRAS Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Costello syndrome 218040 Tags
Green List (high evidence)	HRAS Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Phakomatosis pigmentokeratotica Epidermal naevi Woolly hair Costello syndrome Schimmelpenning syndrome Tags somatic
Green List (high evidence)	IDH1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Maffucci syndrome Ollier disease Tags somatic
Green List (high evidence)	IDH2 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Maffucci syndrome Ollier disease Tags somatic
Green List (high evidence)	IKBKG Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	IKBKG Mosaic skin disorders v1.12	1 review 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 Review Green Genomics England PanelApp NHS GMS Phenotypes Incontinentia pigmenti, 308300 Tags somatic
Green List (high evidence)	IKBKG Lymphoedema_syndromic v0.12	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 Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 Tags
Green List (high evidence)	KIF11 Lymphoedema_syndromic v0.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen London South GLH Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green List (high evidence)	KRAS Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Epidermal naevi Schimmelpenning syndrome Tags somatic
Green List (high evidence)	KRAS Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Arteriovenous malformation of the brain, somatic 108010 Vascular malformation Tags somatic
Green List (high evidence)	KRAS Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Cardiofaciocutaneous syndrome 2 615278 Noonan syndrome 3 609942 Tags
Green List (high evidence)	KRIT1 Vascular Malformations_Germline v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Phenotypes Cerebral cavernous malformations-1 116860 Cavernous malformations of CNS and retina 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860 Tags founder
Green List (high evidence)	KRT1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Ichthyosis histrix Epidermolytic hyperkeratosis Palmoplantar keratoderma Tags somatic
Green List (high evidence)	KRT10 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Epidermolytic hyperkeratosis Pachyonychia congenita Ichythosis with confetti Palmoplantar keratoderma Tags
Green List (high evidence)	LZTR1 Lymphoedema_syndromic v0.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Schwannomatosis-2, susceptibility to 615670 Noonan syndrome 10 616564 Tags
Green List (high evidence)	MAP2K1 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Arteriovenous malformation Intramuscular fast-flow vascular anomaly Tags somatic
Green List (high evidence)	MAP2K1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Cardiofaciocutaneous syndrome 3 615279 Tags
Green List (high evidence)	MAP2K2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Cardiofaciocutaneous syndrome 4 615280 Tags
Green List (high evidence)	MAP3K3 Vascular Malformations_Somatic v1.14	3 reviews 3 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Verrucous venous malformation Cerebral cavernous malformations 5, MIM# 621032 Tags somatic
Green List (high evidence)	MAP3K3 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Verrucous haemangiomas Tags somatic
Green List (high evidence)	MDFIC Lymphoedema_nonsyndromic v0.44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 12 - MIM#620014 Tags
Green List (high evidence)	MTOR Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Hypomelanosis of Ito/Blaschko-linear hypopigmentation Tags somatic
Green List (high evidence)	MVD Mosaic skin disorders v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Linear porokeratosis Porokeratosis 7, multiple types, MIM# 614714 Tags
Green List (high evidence)	NF1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Neurofibromatosis type I, MIM#162200 Tags somatic
Green List (high evidence)	NF1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Neurofibromatosis, type 1 162200 Neurofibromatosis-Noonan syndrome 601321 Tags
Green List (high evidence)	NF2 Mosaic skin disorders v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Schwannomatosis, somatic 162091 Meningioma, NF2-related, somatic 607174 Neurofibromatosis, type 2 101000 Tags somatic
Green List (high evidence)	NRAS Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Noonan syndrome Melanocytic naevi Congenital melanocytic naevus syndrome Tags somatic
Green List (high evidence)	NRAS Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes Kaposiform lymphangiomatosis Sporadic vascular malformation Tags somatic
Green List (high evidence)	NRAS Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 6 613224 Tags
Green List (high evidence)	NSD1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Sotos syndrome 1 117550 Tags
Green List (high evidence)	PDGFRB Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags
Green List (high evidence)	PIEZO1 Lymphoedema_syndromic v0.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH Expert list Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380 Lymphatic malformation 6 616843 Tags
Green List (high evidence)	PIEZO1 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PIK3CA Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501 Tags somatic
Green List (high evidence)	PIK3CA Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Vascular malformations PIK3CA-related overgrowth syndromes CLAPO syndrome, somatic 613089 CLOVE syndrome, somatic 612918 Nevus, epidermal, somatic 162900 Tags somatic
Green List (high evidence)	PIK3CA Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Phenotypes Megalencephaly-capillary malformation (MCAP) syndrome Cowden syndrome 5 615108 Tags
Green List (high evidence)	PIK3R1 Vascular Malformations_Somatic v1.14	1 review 1 green	Other	Sources Expert Review Green Expert list Expert list Phenotypes capillary malformation MONDO:0016231, PIK3R1-related Tags
Green List (high evidence)	PIK3R2 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Megalencephaly syndromes Tags somatic
Green List (high evidence)	PMM2 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PORCN Mosaic skin disorders v1.12	2 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 Review Green NHS GMS Phenotypes Focal dermal hypoplasia (MONDO:0010592 MIM#305600) Tags
Green List (high evidence)	PPP1CB Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506 Tags
Green List (high evidence)	PTEN Vascular Malformations_Germline v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cowden syndrome 1, MIM# 158350 Bannayan-Riley-Ruvalcaba syndrome Lhermitte-Duclos syndrome Tags
Green List (high evidence)	PTEN Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Epidermal naevi Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome Melanoma Tags somatic
Green List (high evidence)	PTPN11 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 1 163950 LEOPARD syndrome 1 151100 Tags
Green List (high evidence)	PTPN14 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen London South GLH Phenotypes Choanal atresia and lymphedema, 613611 Tags
Green List (high evidence)	PTPN14 Lymphoedema_nonsyndromic v0.44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Choanal atresia and lymphedema MIM#613611 Tags
Green List (high evidence)	RAF1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 5 611553 LEOPARD syndrome 2 611554 Tags
Green List (high evidence)	RASA1 Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Capillary malformation-arteriovenous malformation, MIM# 608354 Tags
Green List (high evidence)	RASA1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Capillary malformation-arteriovenous malformation 1 608354 Tags
Green List (high evidence)	RASA1 Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Capillary malformation-arteriovenous malformation 1 (608354) Tags
Green List (high evidence)	RHOA Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Blaschko-linear hypopigmentation syndrome Tags somatic
Green List (high evidence)	RIT1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 8 615355 Tags
Green List (high evidence)	SHANK3 Lymphoedema_syndromic v0.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green List (high evidence)	SHOC2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan-like syndrome with loose anagen hair 607721 Tags
Green List (high evidence)	SMAD4 Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Tags
Green List (high evidence)	SMO Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Curry-Jones syndrome, MIM#601707 Tags somatic
Green List (high evidence)	SOS1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 4 610733 Tags
Green List (high evidence)	SOS2 Lymphoedema_syndromic v0.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome 9 616559 Tags
Green List (high evidence)	SOX18 Lymphoedema_nonsyndromic v0.44	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SOX18 Vascular Malformations_Germline v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green List (high evidence)	SOX18 Lymphoedema_syndromic v0.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen London South GLH Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940 Tags
Green List (high evidence)	SPRED1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Legius syndrome, MIM# 611431 Tags somatic
Green List (high evidence)	SPRED1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Legius syndrome 611431 Tags
Green List (high evidence)	STAMBP Vascular Malformations_Germline v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 Tags
Green List (high evidence)	TEK Vascular Malformations_Germline v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Venous malformations, multiple cutaneous and mucosal 600195 Tags
Green List (high evidence)	TEK Vascular Malformations_Somatic v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Venous malformations, multiple cutaneous and mucosal (600195) Blue rubber bleb naevus syndrome Sporadic multifocal vascular malformations Tags
Green List (high evidence)	TIE1 Lymphoedema_nonsyndromic v0.44	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 11, MIM# 619401 Tags
Green List (high evidence)	TSC1 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Phenotypes Tuberous sclerosis-1, MIM# 191100 Tags somatic
Green List (high evidence)	TSC1 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Tuberous sclerosis-1 191100 Lymphangioleiomyomatosis 606690 Focal cortical dysplasia, type II, somatic 607341 Tags
Green List (high evidence)	TSC2 Mosaic skin disorders v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Tuberous sclerosis-2, MIM# 613254 Tags somatic
Green List (high evidence)	TSC2 Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Lymphangioleiomyomatosis, somatic 606690 ?Focal cortical dysplasia, type II, somatic 607341 Tuberous sclerosis-2 613254 Tags
Green List (high evidence)	VEGFC Lymphoedema_nonsyndromic v0.44	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphatic malformation 4, MIM#615907 Tags
Green List (high evidence)	VEGFC Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH Expert list Phenotypes Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like) Tags
Amber List (moderate evidence)	ARAP3 Lymphoedema_nonsyndromic v0.44	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphoedema, MONDO:0019297, ARAP3-related Tags
Amber List (moderate evidence)	CARD14 Mosaic skin disorders v1.12	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp NHS GMS Phenotypes Inflammatory linear verrucous epidermal naevus Tags
Amber List (moderate evidence)	CCM2 Vascular Malformations_Germline v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebral cavernous malformations-2, MIM# 603284 Tags SV/CNV
Amber List (moderate evidence)	CDKN1C Vascular Malformations_Germline v1.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Beckwith-Wiedemann syndrome 130650 Tags
Amber List (moderate evidence)	EPHB4 Vascular Malformations_Somatic v1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Capillary malformation-arteriovenous malformation Tags
Amber List (moderate evidence)	GPAA1 Vascular Malformations_Germline v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Vascular anomalies Tags
Amber List (moderate evidence)	GPRASP1 Vascular Malformations_Germline v1.12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256 Tags
Amber List (moderate evidence)	KDR Vascular Malformations_Germline v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes {Hemangioma, capillary infantile, susceptibility to} 602089 Hemangioma, capillary infantile, somatic 602089 Cystic hygroma Tags somatic
Amber List (moderate evidence)	KIF11 Lymphoedema_nonsyndromic v0.44	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Amber List (moderate evidence)	LRRC8C Vascular Malformations_Germline v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes TIMES syndrome MIM#621056 Tags
Amber List (moderate evidence)	MAP2K1 Mosaic skin disorders v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp NHS GMS Phenotypes vascular malformations Tags
Amber List (moderate evidence)	MET Vascular Malformations_Somatic v1.14	1 review	Other	Sources Expert Review Amber Literature Phenotypes lymphovenous malformation overgrowth Tags
Amber List (moderate evidence)	MTOR Vascular Malformations_Somatic v1.14	1 review	Other	Sources Expert Review Amber Expert list Expert list Phenotypes Smith-Kingsmore syndrome 616638 Focal cortical dysplasia, type II, somatic 607341 Tags
Amber List (moderate evidence)	PDCD10 Vascular Malformations_Germline v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Cerebral cavernous malformations 3 Tags
Amber List (moderate evidence)	PMVK Mosaic skin disorders v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp NHS GMS Phenotypes Linear porokeratosis Porokeratosis 1, multiple types, MIM# 175800 Tags
Amber List (moderate evidence)	RASA1 Mosaic skin disorders v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp NHS GMS Phenotypes Capillary malformation-arteriovenous malformation syndrome Tags
Amber List (moderate evidence)	RORC Lymphoedema_nonsyndromic v0.44	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lymphoedema Tags
Amber List (moderate evidence)	SOS1 Vascular Malformations_Somatic v1.14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Expert list Phenotypes Noonan syndrome 4 610733 Tags
Amber List (moderate evidence)	TEK Mosaic skin disorders v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp NHS GMS Phenotypes Venous malformations, multiple cutaneous and mucosal, 600195 Tags
Red List (low evidence)	AKT1 Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Proteus syndrome, somatic 176920 Cowden syndrome 6 615109 Tags somatic
Red List (low evidence)	ALG8 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	ALX3 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Frontonasal dysplasia 1 136760 Tags
Red List (low evidence)	AQP1 Lymphoedema_syndromic v0.12	0 reviews	Unknown	Sources Literature Expert Review Red Phenotypes [Blood group, Colton] 110450 Aquaporin-1 deficiency Tags
Red List (low evidence)	ARL6IP6 Vascular Malformations_Germline v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Cutis marmorata telangiectatica congenita Tags
Red List (low evidence)	ATR Vascular Malformations_Germline v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564 Tags
Red List (low evidence)	BRAF Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Sporadic vascular malformations Tags somatic
Red List (low evidence)	CCDC88A Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes ?PEHO syndrome-like, 617507 Tags
Red List (low evidence)	CDC42 Lymphoedema_syndromic v0.12	0 reviews	Unknown	Sources Literature Expert Review Red Phenotypes Takenouchi-Kosaki syndrome 616737 Tags
Red List (low evidence)	CHD7 Lymphoedema_syndromic v0.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes CHARGE syndrome 214800 Tags
Red List (low evidence)	CSPP1 Mosaic skin disorders v1.12	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes Inflammatory linear verrucous epidermal naevus (ILVEN) Tags
Red List (low evidence)	FBXL7 Lymphoedema_syndromic v0.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hennekam syndrome lymphedema Tags
Red List (low evidence)	GJA1 Mosaic skin disorders v1.12	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes Inflammatory linear verrucous epidermal naevus (ILVEN) Tags
Red List (low evidence)	GNA11 Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Somatic hemangioma Tags somatic
Red List (low evidence)	GNA14 Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Tufted angioma Anastomosing hemangioma vascular tumours Tags somatic
Red List (low evidence)	GNAQ Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Sturge-Weber syndrome, somatic, mosaic 185300 Capillary malformations, congenital, 1, somatic, mosaic 163000 Phacomatosis pigmentovascularis Tags somatic
Red List (low evidence)	GNB2 Vascular Malformations_Somatic v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Sturge-Weber syndrome, somatic, mosaic Tags somatic
Red List (low evidence)	HGF Lymphoedema_syndromic v0.12	0 reviews	Unknown	Sources Expert list Tags
Red List (low evidence)	HRAS Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Extracranial arteriovenous malformations Vascular malformation/overgrowth syndromes Tags somatic
Red List (low evidence)	KDR Vascular Malformations_Somatic v1.14	1 review 1 red	Other	Sources Expert list Phenotypes Hemangioma, capillary infantile, somatic, MIM# 602089 Tags
Red List (low evidence)	KRAS Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Arteriovenous malformation of the brain, somatic 108010 Vascular malformation Tags somatic
Red List (low evidence)	MAP2K1 Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Intramuscular fast-flow vascular anomaly Arteriovenous malformation Tags somatic
Red List (low evidence)	MAP3K3 Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Verrucous venous malformation Tags somatic
Red List (low evidence)	MET Lymphoedema_syndromic v0.12	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	MPI Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Tags
Red List (low evidence)	MTOR Vascular Malformations_Germline v1.12	1 review	Other	Sources Expert Review Red Expert list Phenotypes Smith-Kingsmore syndrome 616638 Focal cortical dysplasia, type II, somatic 607341 Tags somatic
Red List (low evidence)	NRAS Vascular Malformations_Germline v1.12	1 review 1 green	Other	Sources Expert Review Red Expert list Phenotypes Kaposiform lymphangiomatosis Sporadic vascular malformation Tags somatic
Red List (low evidence)	PIK3R1 Vascular Malformations_Germline v1.12	1 review 1 red	Other	Sources Expert Review Red Expert list Phenotypes capillary and lymphatic malformation Tags somatic
Red List (low evidence)	PIK3R2 Vascular Malformations_Germline v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 Tags
Red List (low evidence)	PTPN11 Mosaic skin disorders v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp NHS GMS Phenotypes Noonan syndrome Noonan syndrome with lentigines (LEOPARD) Tags
Red List (low evidence)	PTPN11 Vascular Malformations_Germline v1.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes LEOPARD syndrome 1 151100 Noonan syndrome 1 163950 cystic hygroma Tags
Red List (low evidence)	PTPN14 Vascular Malformations_Germline v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Choanal atresia and lymphedema 613611 Tags
Red List (low evidence)	SOS1 Vascular Malformations_Germline v1.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Phenotypes Noonan syndrome 4 610733 Tags somatic
Red List (low evidence)	TTR Lymphoedema_syndromic v0.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Amyloidosis, hereditary, transthyretin-related 105210 Carpal tunnel syndrome, familial 115430 Dystransthyretinemic hyperthyroxinemia 145680 Tags
Red List (low evidence)	ZNHIT3 Lymphoedema_syndromic v0.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Red Phenotypes PEHO syndrome, 260565 Tags

Vascular Malformations SuperPanel (Version 1.64)

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