Description
This is a combined gene panel for the following disorders: 

- Vein of Galen malformation
- Cerebral vascular malformations
- Moyamoya disease

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

93 genes

93 reviewed, 29 green

List Gene Reviews Mode of inheritance Details
93 genes
Green Green List (high evidence)
ADA2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
Green Green List (high evidence)
ACTA2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Moyamoya disease 5
  • Moyamoya Disease
  • Moyamoya disease 5,614042
  • Aortic aneurysm familial thoracic 6,611788
  • Multisystemic smooth muscle dysfunction syndrome,613834
Green Green List (high evidence)
ACVRL1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Green Green List (high evidence)
ATR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 1 210600
Green Green List (high evidence)
CCM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Cerebral Cavernous Malformation
  • Cerebral cavernous malformations 2
  • Cerebral Cavernous Malformations
  • Capillary malformation-arteriovenous malformation 608354
Green Green List (high evidence)
CEP152
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Seckel syndrome 5 613823
Green Green List (high evidence)
COL3A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Ehlers-Danlos syndrome, type IV 130050
Green Green List (high evidence)
ELN
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Moyamoya disease
  • Aneurysm, intracranial berry, 1 105800
Green Green List (high evidence)
ENG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Other
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Green Green List (high evidence)
FLVCR2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Green Green List (high evidence)
GUCY1A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Green Green List (high evidence)
HBB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Sickle cell anemia 603903
Tags
  • gene-therapy-trial
Green Green List (high evidence)
JAG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Moyamoya disease
  • Alagille syndrome 1, 118450
Green Green List (high evidence)
KRIT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cerebral cavernous malformations-1, 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
  • Cerebral Cavernous Malformation
  • Cerebral cavernous malformations 1
  • Cerebral Cavernous Malformations
  • Familial Cerebral Cavernous Malformation
  • Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Green Green List (high evidence)
NF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200
Green Green List (high evidence)
NOTCH3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  • Moyamoya disease
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL)
Green Green List (high evidence)
PCNT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Moyamoya disease
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Green Green List (high evidence)
PDCD10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cerebral cavernous malformations 3, 603285
  • Cerebral Cavernous Malformation
  • Cerebral cavernous malformations 3
  • Cerebral Cavernous Malformations
  • Familial Cerebral Cavernous Malformation
Green Green List (high evidence)
PKD1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I 173900
Green Green List (high evidence)
PKD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic kidney disease 2 613095
Green Green List (high evidence)
RASA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Capillary malformation-arteriovenous malformation, 608354
  • Parkes Weber syndrome, 608355
  • Parkes Weber syndrome (PKWS)
  • Capillary Malformation-Arteriovenous Malformation Syndrome
  • Parkes Weber Syndrome
  • Parkes Weber syndrome
Green Green List (high evidence)
SAMHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Moyamoya disease
Green Green List (high evidence)
SLC2A10
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome
  • Moyamoya disease
  • 208050
Green Green List (high evidence)
SMAD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Green Green List (high evidence)
SMAD4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Green Green List (high evidence)
TGFB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Green Green List (high evidence)
TGFBR1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Green Green List (high evidence)
TGFBR2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Green Green List (high evidence)
THSD1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • subarachnoid hemorrhage
Amber Amber List (moderate evidence)
GDF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Red Red List (low evidence)
ABCC6
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
ACE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • {Stroke, hemorrhagic}
Red Red List (low evidence)
ADGRG1
2 reviews
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
ANTXR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Other
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
Red Red List (low evidence)
ARX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
ATP7A
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
BRCC3
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
CENPJ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 4 613676
Red Red List (low evidence)
CEP63
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Seckel syndrome 6 614728
Red Red List (low evidence)
COL4A1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • {Hemorrhage, intracerebral, susceptibility to}, 614519
  • Brain Small Vessel Disease with Hemorrhage
  • {Hemorrhage, intracerebral, susceptibility to}
  • Brain small vessel disease with or without ocular anomalies
Red Red List (low evidence)
COL4A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hemorrhage, intracerebral, susceptibility to}, 614519
  • {Hemorrhage, intracerebral, susceptibility to}
Red Red List (low evidence)
CRB1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pigmented Paravenous Chorioretinal Atrophy
Red Red List (low evidence)
DCX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
DNA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 8 615807
Red Red List (low evidence)
FBN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Marfan syndrome 154700
Red Red List (low evidence)
FLT4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • Hemangioma, capillary infantile, somatic
Red Red List (low evidence)
FOXF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Red Red List (low evidence)
GLA
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
GLMN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Glomuvenous malformations
  • Glomuvenous Malformation
Red Red List (low evidence)
GNAQ
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Cerebral diseases of vascular origin with epilepsy
  • Capillary malformations, congenital, 1, somatic, mosaic, 163000
Tags
  • mosaicism
  • currently-ngs-unreportable
Red Red List (low evidence)
HLA-B
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
HLA-DQB1
2 reviews
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
HLA-DRB1
2 reviews
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Moyamoya disease
Red Red List (low evidence)
HTRA1
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Moyamoya disease
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Red Red List (low evidence)
IL6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
Red Red List (low evidence)
KDR
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
  • Hemangioma, capillary infantile, somatic
  • Hemangioma, capillary infantile, somatic, 602089
Red Red List (low evidence)
LAMB1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
LAMC3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
LARGE1
3 reviews
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
MEF2C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
  • Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
Red Red List (low evidence)
NDE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
NIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 7 614851
Red Red List (low evidence)
OCLN
1 review
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
OPHN1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
PAFAH1B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
PIK3CA
1 review
Not set
Sources
  • Expert Review Red
  • Other
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
  • Cerebral Malformation Disorders
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
Red Red List (low evidence)
PIK3R2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
POMGNT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
POMT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
POMT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
PTEN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Bannayan-Riley-Ruvalcaba Syndrome
Red Red List (low evidence)
RBBP8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome 2 606744
Red Red List (low evidence)
RELN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
RNF213
2 reviews
Unknown
Sources
  • Expert Review Red
  • Expert list
  • Other
Phenotypes
  • {Moyamoya disease 2, susceptibility to}
Red Red List (low evidence)
RTTN
1 review
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
SMARCAL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Red Red List (low evidence)
SRPX2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
STAMBP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261
  • Microcephaly-capillary malformation syndrome
Red Red List (low evidence)
TEK
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, 600195
  • Multiple Cutaneous and Mucosal Venous Malformations
Red Red List (low evidence)
TMEM5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Tags
  • new-gene-name
Red Red List (low evidence)
TRAIP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Seckel syndrome 9 616777
Red Red List (low evidence)
TUBA1A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBA8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBB
1 review
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBB2A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBB2B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBB3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
TUBG1
1 review
1 red
Not set
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
VLDLR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Red Red List (low evidence)
WDR62
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
No list No list
ANIB1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Aneurysm, intracranial berry, 1
Tags
  • locus-type-phenotype-only
No list No list
MYMY1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Moyamoya disease
Tags
  • locus-type-phenotype-only
No list No list
MYMY3
3 reviews
1 red
Unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Moyamoya disease 3
Tags
  • locus-type-phenotype-only

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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