PanelApp
  1. Panels
  2. Vascular Malformations SuperPanel
Description
This is a superpanel of vascular disorders (both inherited and somatic) used by Dermatology at Royal Melbourne Hospital.

225 Entities

186 reviewed, 141 green

List Entity Reviews Mode of inheritance Details
225 Entitiess
Green Green List (high evidence)
ACTA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Multisystemic smooth muscle dysfunction syndrome,613834
  • Aortic aneurysm familial thoracic 6,611788
  • Moyamoya Disease
  • Moyamoya disease 5
  • Moyamoya disease 5,614042
Tags
Green Green List (high evidence)
ACTB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Becker nevus, somatic mosaic, MIM# 604919
Tags
  • somatic
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Tags
Green Green List (high evidence)
ACVRL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Tags
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • cerebral pulmonary arteriovenous malformation
  • pulmonary arteriovenous malformation
  • hepatic arteriovenous malformation
  • epistaxis
  • pulmonary arterial hypertension
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
  • telangiectasia
Tags
Green Green List (high evidence)
ADAMTS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)
Tags
Green Green List (high evidence)
AKT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Proteus syndrome, somatic 176920
Tags
  • somatic
Green Green List (high evidence)
AKT1
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Cowden syndrome 6 615109
  • Proteus syndrome, somatic 176920
Tags
  • somatic
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
Tags
Green Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Tags
Green Green List (high evidence)
AKT3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Megalencephaly syndromes
Tags
  • somatic
Green Green List (high evidence)
ANGPT2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Disease associations
  • Lymphatic malformation-10, MIM#619369
  • Primary lymphoedema
  • Hydrops
Tags
Green Green List (high evidence)
ANGPTL6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Cerebral aneurysm
Tags
Green Green List (high evidence)
ATM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Ataxia-telangiectasia, MIM# 208900
Tags
Green Green List (high evidence)
ATP2A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Darier disease, MIM# 124200
Tags
  • somatic
Green Green List (high evidence)
BRAF
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Sporadic vascular malformations
Tags
  • somatic
Green Green List (high evidence)
BRAF
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Disease associations
  • Melanocytic naevus syndrome (MONDO:0044792
  • MIM#137550)
Tags
Green Green List (high evidence)
BRAF
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Green Green List (high evidence)
CBL
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • early-onset moyamoya angiopathy
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Green Green List (high evidence)
CBL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Tags
Green Green List (high evidence)
CCBE1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Disease associations
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
  • Hennekam lymphangiectasia-lymphedema syndrome, 235510
Tags
Green Green List (high evidence)
CCM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Cerebral cavernous malformations 2
  • Cerebral Cavernous Malformation
  • Capillary malformation-arteriovenous malformation 608354
  • Cerebral Cavernous Malformations
Tags
Green Green List (high evidence)
CELSR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Disease associations
  • Lymphatic malformation 9, MIM# 619319
Tags
Green Green List (high evidence)
COL3A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Ehlers-Danlos syndrome, type IV 130050
Tags
Green Green List (high evidence)
COL4A1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
  • Brain small vessel disease with or without ocular anomalies, MIM# 175780
Tags
Green Green List (high evidence)
ELMO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
Disease associations
  • Vascular malformation, primary intraosseous, MIM#606893
Tags
Green Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Tags
Green Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • 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 Green List (high evidence)
ENG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Capillary malformation-arteriovenous malformation 2, MIM#618196
Tags
Green Green List (high evidence)
EPHB4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Capillary malformation-arteriovenous malformation 2, 618196
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • EPHB4-associated vascular malformation spectrum MONDO:0700080
Tags
Green Green List (high evidence)
ERG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Disease associations
  • Lymphatic malformation 14, MIM# 620602
Tags
Green Green List (high evidence)
FAT4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Disease associations
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546
Tags
Green Green List (high evidence)
FDFT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Disease associations
  • porokeratosis MONDO:0006602, FDFT1-related
Tags
  • somatic
Green Green List (high evidence)
FGFR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Epidermal naevi
Tags
  • somatic
Green Green List (high evidence)
FGFR2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Keratinocytic epidermal naevi
Tags
  • somatic
Green Green List (high evidence)
FGFR3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Epidermal naevi
  • Syringocystadenoma papilliferum
Tags
  • somatic
Green Green List (high evidence)
FLT4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FLVCR2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Tags
Green Green List (high evidence)
FOXC2
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
Disease associations
  • Lymphedema-distichiasis syndrome, 153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400
Tags
Green Green List (high evidence)
GATA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
Disease associations
  • {Myelodysplastic syndrome, susceptibility to} 614286
  • Emberger Syndrome 614038
Tags
Green Green List (high evidence)
GDF2
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
  • pulmonary arteriovenous malformations
Tags
Green Green List (high evidence)
GJA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South GLH
  • Expert list
Disease associations
  • Oculodentodigital dysplasia 164200
Tags
Green Green List (high evidence)
GJA4
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Cavernous hemangioma
Tags
  • somatic
Green Green List (high evidence)
GJC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Disease associations
  • Lymphedema, hereditary, IC, 613480
Tags
Green Green List (high evidence)
GLMN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Glomuvenous malformations (138000)
Tags
Green Green List (high evidence)
GLMN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Glomuvenous malformations, MIM# 138000
Tags
Green Green List (high evidence)
GNA11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Extensive dermal melanocytosis
  • Phakomatosis pigmentovascularis
Tags
  • somatic
Green Green List (high evidence)
GNA11
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Disease associations
  • Somatic hemangioma
  • Phacomatosis pigmentovascularis, somatic
Tags
  • somatic
Green Green List (high evidence)
GNA14
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Kaposiform endothelioma
  • Tufted angioma
Tags
  • somatic
Green Green List (high evidence)
GNA14
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Tufted angioma
  • vascular tumours
  • Anastomosing hemangioma
Tags
  • somatic
Green Green List (high evidence)
GNAQ
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic
Green Green List (high evidence)
GNAQ
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Extensive dermal melanocytosis
  • Sturge Weber syndrome
  • Phakomatosis pigmentovascularis
Tags
  • somatic
Green Green List (high evidence)
GNAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • McCune-Albright syndrome
Tags
  • somatic
Green Green List (high evidence)
GUCY1A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
Green Green List (high evidence)
HGF
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Literature
  • Expert list
Tags
Green Green List (high evidence)
HRAS
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Vascular malformation/overgrowth syndromes
  • Extracranial arteriovenous malformations
Tags
  • somatic
Green Green List (high evidence)
HRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Phakomatosis pigmentokeratotica
  • Epidermal naevi
  • Woolly hair
  • Costello syndrome
  • Schimmelpenning syndrome
Tags
  • somatic
Green Green List (high evidence)
HRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Costello syndrome 218040
Tags
Green Green List (high evidence)
IDH1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Maffucci syndrome
  • Ollier disease
Tags
  • somatic
Green Green List (high evidence)
IDH2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Maffucci syndrome
  • Ollier disease
Tags
  • somatic
Green Green List (high evidence)
IKBKG
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
Disease associations
  • Incontinentia pigmenti, 308300
Tags
  • somatic
Green 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 Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Disease associations
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301
Tags
Green Green List (high evidence)
Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome
ISCA-37431-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Disease associations
  • Chromosome 17q11.2 deletion syndrome, MIM#613675
  • NF1 deletion syndrome
Tags
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Disease associations
  • Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
  • MONDO:0007918
Tags
Green Green List (high evidence)
KRAS
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Arteriovenous malformation of the brain, somatic 108010
  • Vascular malformation
Tags
  • somatic
Green Green List (high evidence)
KRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Epidermal naevi
  • Schimmelpenning syndrome
Tags
  • somatic
Green Green List (high evidence)
KRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Cardiofaciocutaneous syndrome 2 615278
  • Noonan syndrome 3 609942
Tags
Green Green List (high evidence)
KRIT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Cavernous malformations of CNS and retina, 116860
  • Cerebral cavernous malformations-1, 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Tags
  • founder
Green Green List (high evidence)
KRIT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
Disease associations
  • 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 Green List (high evidence)
KRT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Ichthyosis histrix
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
Tags
  • somatic
Green Green List (high evidence)
KRT10
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Epidermolytic hyperkeratosis
  • Pachyonychia congenita
  • Ichythosis with confetti
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
LZTR1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Schwannomatosis-2, susceptibility to 615670
  • Noonan syndrome 10 616564
Tags
Green Green List (high evidence)
MAP2K1
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Arteriovenous malformation
  • Intramuscular fast-flow vascular anomaly
Tags
  • somatic
Green Green List (high evidence)
MAP2K1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Cardiofaciocutaneous syndrome 3 615279
Tags
Green Green List (high evidence)
MAP2K2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Cardiofaciocutaneous syndrome 4 615280
Tags
Green Green List (high evidence)
MAP3K3
3 reviews
3 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Verrucous venous malformation
  • Cerebral cavernous malformations 5, MIM# 621032
Tags
  • somatic
Green Green List (high evidence)
MAP3K3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Verrucous haemangiomas
Tags
  • somatic
Green Green List (high evidence)
MDFIC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Literature
Disease associations
  • Lymphatic malformation 12 - MIM#620014
Tags
Green Green List (high evidence)
MTOR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
  • somatic
Green Green List (high evidence)
MVD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Linear porokeratosis
  • Porokeratosis 7, multiple types, MIM# 614714
Tags
Green Green List (high evidence)
NF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis-Noonan syndrome 601321
Tags
Green Green List (high evidence)
NF1
4 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200
Tags
Green Green List (high evidence)
NF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Neurofibromatosis type I, MIM#162200
Tags
  • somatic
Green Green List (high evidence)
NF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Schwannomatosis, somatic 162091
  • Meningioma, NF2-related, somatic 607174
  • Neurofibromatosis, type 2 101000
Tags
  • somatic
Green Green List (high evidence)
NRAS
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
  • somatic
Green Green List (high evidence)
NRAS
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 6 613224
Tags
Green Green List (high evidence)
NRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Noonan syndrome
  • Melanocytic naevi
  • Congenital melanocytic naevus syndrome
Tags
  • somatic
Green Green List (high evidence)
NSD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Sotos syndrome 1 117550
Tags
Green Green List (high evidence)
PCNT
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
  • Moyamoya disease
Tags
Green Green List (high evidence)
PDCD10
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebral Cavernous Malformations
  • Cerebral cavernous malformations 3
  • Cerebral cavernous malformations 3, 603285
  • Cerebral Cavernous Malformation
  • Familial Cerebral Cavernous Malformation
Tags
Green Green List (high evidence)
PDGFRB
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • aneurysm
  • scoliosis
  • atrophic skin
  • stroke
  • infantile myofibromatosis
Tags
  • somatic
Green Green List (high evidence)
PDGFRB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Kosaki overgrowth syndrome MIM#616592
Tags
Green Green List (high evidence)
PIEZO1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London South GLH
  • Expert list
Disease associations
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380
  • Lymphatic malformation 6 616843
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Cerebral cavernous malformations 4, MIM#619538
Tags
  • somatic
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501
Tags
  • somatic
Green Green List (high evidence)
PIK3CA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Vascular malformations
  • PIK3CA-related overgrowth syndromes
  • CLAPO syndrome, somatic 613089
  • CLOVE syndrome, somatic 612918
  • Nevus, epidermal, somatic 162900
Tags
  • somatic
Green Green List (high evidence)
PIK3CA
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Megalencephaly-capillary malformation (MCAP) syndrome
  • Cowden syndrome 5 615108
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Disease associations
  • capillary malformation MONDO:0016231, PIK3R1-related
Tags
Green Green List (high evidence)
PIK3R2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Megalencephaly syndromes
Tags
  • somatic
Green Green List (high evidence)
PKD1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Polycystic kidney disease, adult type I 173900
Tags
Green Green List (high evidence)
PMM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PORCN
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
Disease associations
  • Focal dermal hypoplasia (MONDO:0010592
  • MIM#305600)
Tags
Green Green List (high evidence)
PPP1CB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome-like disorder with loose anagen hair 2 617506
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Cowden syndrome 1, MIM# 158350
  • Bannayan-Riley-Ruvalcaba syndrome
  • Lhermitte-Duclos syndrome
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Epidermal naevi
  • Cowden syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
  • Melanoma
Tags
  • somatic
Green Green List (high evidence)
PTPN11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 1 163950
  • LEOPARD syndrome 1 151100
Tags
Green Green List (high evidence)
PTPN14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • London South GLH
  • Expert list
Disease associations
  • Choanal atresia and lymphedema, 613611
Tags
Green Green List (high evidence)
RAF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 5 611553
  • LEOPARD syndrome 2 611554
Tags
Green Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Capillary malformation-arteriovenous malformation 1 (608354)
Tags
Green Green List (high evidence)
RASA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Capillary malformation-arteriovenous malformation 1 608354
Tags
Green Green List (high evidence)
RASA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Parkes Weber syndrome
  • Capillary malformation-arteriovenous malformation, 608354
  • Parkes Weber Syndrome
  • Parkes Weber syndrome (PKWS)
  • Parkes Weber syndrome, 608355
  • Capillary Malformation-Arteriovenous Malformation Syndrome
Tags
Green Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Capillary malformation-arteriovenous malformation, MIM# 608354
Tags
Green Green List (high evidence)
RHOA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Blaschko-linear hypopigmentation syndrome
Tags
  • somatic
Green Green List (high evidence)
RIT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 8 615355
Tags
Green Green List (high evidence)
RNF213
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • susceptibility to Moyamoya disease 2, (MIM# 607151)
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Disease associations
  • Moyamoya disease
Tags
Green Green List (high evidence)
SHANK3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Phelan-McDermid syndrome, MIM# 606232
  • MONDO:0011652
Tags
  • SV/CNV
Green Green List (high evidence)
SHOC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan-like syndrome with loose anagen hair 607721
Tags
Green Green List (high evidence)
SLC2A10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • 208050
  • Moyamoya disease
  • Arterial tortuosity syndrome
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Green Green List (high evidence)
SMO
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Curry-Jones syndrome, MIM#601707
Tags
  • somatic
Green Green List (high evidence)
SOS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 4 610733
Tags
Green Green List (high evidence)
SOS2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Noonan syndrome 9 616559
Tags
Green Green List (high evidence)
SOX18
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Tags
Green Green List (high evidence)
SOX18
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Disease associations
  • Hypotrichosis-lymphedema-telangiectasia syndrome, 607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940
Tags
Green Green List (high evidence)
SPRED1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Legius syndrome 611431
Tags
Green Green List (high evidence)
SPRED1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Legius syndrome, MIM# 611431
Tags
  • somatic
Green Green List (high evidence)
STAMBP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Microcephaly-capillary malformation syndrome, MIM# 614261
Tags
Green Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Disease associations
  • Venous malformations, multiple cutaneous and mucosal (600195)
  • Blue rubber bleb naevus syndrome
  • Sporadic multifocal vascular malformations
Tags
Green Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Disease associations
  • Venous malformations, multiple cutaneous and mucosal 600195
Tags
Green Green List (high evidence)
TIE1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Disease associations
  • Lymphatic malformation 11, MIM# 619401
Tags
Green Green List (high evidence)
TSC1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Disease associations
  • Tuberous sclerosis-1, MIM# 191100
Tags
  • somatic
Green Green List (high evidence)
TSC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Tuberous sclerosis-1 191100
  • Lymphangioleiomyomatosis 606690
  • Focal cortical dysplasia, type II, somatic 607341
Tags
Green Green List (high evidence)
TSC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Disease associations
  • Lymphangioleiomyomatosis, somatic 606690
  • ?Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
TSC2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Disease associations
  • Tuberous sclerosis-2, MIM# 613254
Tags
  • somatic
Green Green List (high evidence)
UNC45A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Disease associations
  • Osteootohepatoenteric syndrome, MIM# 619377
  • Cholestasis
  • Diarrhoea
  • Bone fragility
  • Impaired hearing
Tags
  • 5'UTR
Green Green List (high evidence)
VEGFC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • London South GLH
  • Expert list
  • Victorian Clinical Genetics Services
Disease associations
  • Lymphedema, hereditary, ID 615907 (Primary Lymphoedema, Milroy-like)
Tags
Green Green List (high evidence)
YY1AP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Grange syndrome, 602531
Tags
Amber Amber List (moderate evidence)
ADA2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
Tags
Amber Amber List (moderate evidence)
ANO1
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Disease associations
  • Moyamoya disease 7, MIM# 620687
Tags
Amber Amber List (moderate evidence)
ARAF
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Disease associations
  • Lymphatic malformation, MONDO:0019313, ARAF-related
Tags
Amber Amber List (moderate evidence)
ARAP3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Disease associations
  • Lymphoedema, MONDO:0019297, ARAP3-related
Tags
Amber Amber List (moderate evidence)
BRCC3
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Disease associations
  • MoyaMoya Disease, syndromic, MONDO:0016820
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
CARD14
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Inflammatory linear verrucous epidermal naevus
Tags
Amber Amber List (moderate evidence)
CCM2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Disease associations
  • Cerebral cavernous malformations-2, MIM# 603284
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
CDKN1C
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Disease associations
  • Beckwith-Wiedemann syndrome 130650
Tags
Amber Amber List (moderate evidence)
CHD4
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Moya Moya
  • Sifrim-Hitz-Weiss syndrome, MIM# 617159
Tags
Amber Amber List (moderate evidence)
CNOT3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Moya Moya
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Tags
Amber Amber List (moderate evidence)
EPHB4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Disease associations
  • Capillary malformation-arteriovenous malformation
Tags
Amber Amber List (moderate evidence)
FOXM1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Disease associations
  • Moyamoya disease MONDO:0016820
Tags
Amber Amber List (moderate evidence)
GNA13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Ito hypomelanosis MONDO:0010302
Tags
  • somatic
Amber Amber List (moderate evidence)
GPAA1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Vascular malformation, MONDO:0024291, GPAA1-related
Tags
Amber Amber List (moderate evidence)
GPRASP1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256
Tags
Amber Amber List (moderate evidence)
HBB
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Disease associations
  • Sickle cell anemia 603903
Tags
Amber Amber List (moderate evidence)
KDR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Disease associations
  • {Hemangioma, capillary infantile, susceptibility to} 602089
  • Hemangioma, capillary infantile, somatic 602089
  • Cystic hygroma
Tags
  • somatic
Amber Amber List (moderate evidence)
LRRC8C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • TIMES syndrome MIM#621056
Tags
Amber Amber List (moderate evidence)
MAP2K1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • vascular malformations
Tags
Amber Amber List (moderate evidence)
MET
1 review
 Other
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • lymphovenous malformation
  • overgrowth
Tags
Amber Amber List (moderate evidence)
MTOR
1 review
 Other
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Disease associations
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
Tags
Amber Amber List (moderate evidence)
NOS3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Moyamoya disease 8, MIM# 621469
Tags
Amber Amber List (moderate evidence)
PDCD10
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Disease associations
  • Cerebral cavernous malformations 3
Tags
Amber Amber List (moderate evidence)
PKD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Polycystic kidney disease 2 613095
Tags
Amber Amber List (moderate evidence)
PMVK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Linear porokeratosis
  • Porokeratosis 1, multiple types, MIM# 175800
Tags
Amber Amber List (moderate evidence)
RASA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Capillary malformation-arteriovenous malformation syndrome
Tags
Amber Amber List (moderate evidence)
RORC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Disease associations
  • Lymphoedema
Tags
Amber Amber List (moderate evidence)
SETD5
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Moya Moya
  • Mental retardation, autosomal dominant 23, MIM# 615761
Tags
Amber Amber List (moderate evidence)
SMAD9
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
SOS1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Disease associations
  • Noonan syndrome 4 610733
Tags
Amber Amber List (moderate evidence)
TEK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Venous malformations, multiple cutaneous and mucosal, 600195
Tags
Amber Amber List (moderate evidence)
THSD1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • subarachnoid hemorrhage
Tags
Red Red List (low evidence)
ABCC6
4 reviews
2 green 1 red 		Unknown
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Moyamoya disease
Tags
Red Red List (low evidence)
ACE
2 reviews
1 green 1 red 		Not set
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • {Stroke, hemorrhagic}
Tags
Red Red List (low evidence)
ADGRG1
4 reviews
3 green 1 red 		Not set
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Disease associations
  • bilateral frontoparietal polymicrogyria MONDO:0011738
Tags
Red Red List (low evidence)
AKT1
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Proteus syndrome, somatic 176920
  • Cowden syndrome 6 615109
Tags
  • somatic
Red Red List (low evidence)
ALG8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
ALX3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Disease associations
  • Frontonasal dysplasia 1 136760
Tags
Red Red List (low evidence)
ANTXR1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • GAPO syndrome MONDO:0009263
Tags
Red Red List (low evidence)
AQP1
0 reviews
 Unknown
Sources
  • Literature
  • Expert Review Red
Disease associations
  • [Blood group, Colton] 110450
  • Aquaporin-1 deficiency
Tags
Red Red List (low evidence)
ARL6IP6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Disease associations
  • Cutis marmorata telangiectatica congenita
Tags
Red Red List (low evidence)
ARX
2 reviews
1 green 1 red 		Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Disease associations
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
ATR
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Seckel syndrome 1 210600
Tags
Red Red List (low evidence)
ATR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564
Tags
Red Red List (low evidence)
BRAF
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Sporadic vascular malformations
Tags
  • somatic
Red Red List (low evidence)
CCDC88A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Disease associations
  • ?PEHO syndrome-like, 617507
Tags
Red Red List (low evidence)
CDC42
0 reviews
 Unknown
Sources
  • Literature
  • Expert Review Red
Disease associations
  • Takenouchi-Kosaki syndrome 616737
Tags
Red Red List (low evidence)
CEP152
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • Seckel syndrome 5 613823
Tags
Red Red List (low evidence)
CEP63
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Disease associations
  • Seckel syndrome 6 614728
Tags
Red Red List (low evidence)
CHD7
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • CHARGE syndrome 214800
Tags
Red Red List (low evidence)
COL4A2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Stroke, hemorrhagic MIM#614519
Tags
Red Red List (low evidence)
CPAP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Seckel syndrome 4 613676
Tags
Red Red List (low evidence)
CRB1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
Disease associations
  • Pigmented paravenous chorioretinal atrophy MIM#172870
Tags
Red Red List (low evidence)
CSPP1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Other
Disease associations
  • Inflammatory linear verrucous epidermal naevus (ILVEN)
Tags
Red Red List (low evidence)
CTSA
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • galactosialidosis MONDO:0009737
Tags
Red Red List (low evidence)
DCX
2 reviews
1 green 1 red 		Not set
Sources
  • Expert Review Red
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Disease associations
  • lissencephaly spectrum disorders MONDO:0018838
Tags
Red Red List (low evidence)
FBXL7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Hennekam syndrome
  • lymphedema
Tags
Red Red List (low evidence)
GDF2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Disease associations
  • Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506
Tags
Red Red List (low evidence)
GJA1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Other
Disease associations
  • Inflammatory linear verrucous epidermal naevus (ILVEN)
Tags
Red Red List (low evidence)
GNA11
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Disease associations
  • Somatic hemangioma
Tags
  • somatic
Red Red List (low evidence)
GNA14
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Tufted angioma
  • Anastomosing hemangioma
  • vascular tumours
Tags
  • somatic
Red Red List (low evidence)
GNAQ
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic
Red Red List (low evidence)
GNB2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Sturge-Weber syndrome, somatic, mosaic
Tags
  • somatic
Red Red List (low evidence)
HRAS
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Extracranial arteriovenous malformations
  • Vascular malformation/overgrowth syndromes
Tags
  • somatic
Red Red List (low evidence)
IRAG1
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Expert Review Red
  • Genomics England PanelApp
Tags
Red Red List (low evidence)
KDR
1 review
1 red 		Other
Sources
  • Expert list
Disease associations
  • Hemangioma, capillary infantile, somatic, MIM# 602089
Tags
Red Red List (low evidence)
KEL
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • vein of Galen aneurysm, MONDO:0015196
Tags
Red Red List (low evidence)
KRAS
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Arteriovenous malformation of the brain, somatic 108010
  • Vascular malformation
Tags
  • somatic
Red Red List (low evidence)
LATS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
Disease associations
  • cerebral cavernous malformations MONDO:0031037
Tags
Red Red List (low evidence)
MAP2K1
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Intramuscular fast-flow vascular anomaly
  • Arteriovenous malformation
Tags
  • somatic
Red Red List (low evidence)
MAP3K3
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Verrucous venous malformation
Tags
  • somatic
Red Red List (low evidence)
MET
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
MPI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Tags
Red Red List (low evidence)
MTOR
1 review
 Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • somatic
Red Red List (low evidence)
MYH11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Disease associations
  • Aortic aneurysm, familial thoracic 4, 132900
  • moyamoya-like angiopath
Tags
Red Red List (low evidence)
NRAS
1 review
1 green 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
  • somatic
Red Red List (low evidence)
PIK3R1
1 review
1 red 		Other
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • capillary and lymphatic malformation
Tags
  • somatic
Red Red List (low evidence)
PIK3R2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Red Red List (low evidence)
PTPN11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS GMS
Disease associations
  • Noonan syndrome
  • Noonan syndrome with lentigines (LEOPARD)
Tags
Red Red List (low evidence)
PTPN11
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • LEOPARD syndrome 1 151100
  • Noonan syndrome 1 163950
  • cystic hygroma
Tags
Red Red List (low evidence)
PTPN14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Choanal atresia and lymphedema 613611
Tags
Red Red List (low evidence)
SOS1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Disease associations
  • Noonan syndrome 4 610733
Tags
  • somatic
Red Red List (low evidence)
TTR
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
Disease associations
  • Amyloidosis, hereditary, transthyretin-related 105210
  • Carpal tunnel syndrome, familial 115430
  • Dystransthyretinemic hyperthyroxinemia 145680
Tags
Red Red List (low evidence)
ZNHIT3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Red
Disease associations
  • PEHO syndrome, 260565
Tags

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