Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R336 Cerebral vascular malformations' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R336 Cerebral vascular malformations'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This is a combined gene panel for the following disorders: 
- Vein of Galen malformation
- Cerebral vascular malformations
- Moyamoya disease

The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/147/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (11/12/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

5 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

  • Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

    Group: GeCIP domain
    Workplace: Other

100 Entities

100 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
100 Entitiess
Green Green List (high evidence)
ACTA2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease 5
  • Moyamoya Disease
  • Moyamoya disease 5,614042
  • Aortic aneurysm familial thoracic 6,611788
  • Multisystemic smooth muscle dysfunction syndrome,613834
Tags
Green Green List (high evidence)
ACVRL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Tags
Green Green List (high evidence)
CCM2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Cavernous Malformation
  • Cerebral cavernous malformations 2
  • Cerebral Cavernous Malformations
  • Capillary malformation-arteriovenous malformation 608354
Tags
Green Green List (high evidence)
COL3A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Ehlers-Danlos syndrome, type IV 130050
Tags
Green Green List (high evidence)
ENG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Tags
Green Green List (high evidence)
GUCY1A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
  • new-gene-name
Green Green List (high evidence)
KRIT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
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
Tags
Green Green List (high evidence)
PDCD10
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral cavernous malformations 3, 603285
  • Cerebral Cavernous Malformation
  • Cerebral cavernous malformations 3
  • Cerebral Cavernous Malformations
  • Familial Cerebral Cavernous Malformation
Tags
Green Green List (high evidence)
RASA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
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
Tags
Green Green List (high evidence)
RNF213
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Other
  • Yorkshire and North East GLH
Phenotypes
  • {Moyamoya disease 2, susceptibility to}
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Green Green List (high evidence)
SLC2A10
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Arterial tortuosity syndrome
  • Moyamoya disease
  • 208050
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Tags
Green Green List (high evidence)
YY1AP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Grange syndrome, 602531
Tags
Amber Amber List (moderate evidence)
ADA2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
Tags
Amber Amber List (moderate evidence)
ATR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 1 210600
Tags
Amber Amber List (moderate evidence)
CBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Research
  • Yorkshire and North East GLH
Phenotypes
  • early-onset moyamoya angiopathy
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Amber Amber List (moderate evidence)
CEP152
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 5 613823
Tags
Amber Amber List (moderate evidence)
EPHB4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
Tags
Amber Amber List (moderate evidence)
FLVCR2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Tags
Amber Amber List (moderate evidence)
GDF2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Tags
Amber Amber List (moderate evidence)
HBB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Sickle cell anemia 603903
Tags
  • gene-therapy-trial
Amber Amber List (moderate evidence)
MRVI1
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Tags
Amber Amber List (moderate evidence)
MYH11
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • moyamoya-like angiopath
  • Aortic aneurysm, familial thoracic 4, 132900
Tags
Amber Amber List (moderate evidence)
NF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200
Tags
Amber Amber List (moderate evidence)
PCNT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
Tags
Amber Amber List (moderate evidence)
PKD1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Polycystic kidney disease, adult type I 173900
Tags
Amber Amber List (moderate evidence)
PKD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Polycystic kidney disease 2 613095
Tags
Amber Amber List (moderate evidence)
SMAD9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Tags
Amber Amber List (moderate evidence)
THSD1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • subarachnoid hemorrhage
Tags
Red Red List (low evidence)
ABCC6
1 review
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
ACE
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Yorkshire and North East GLH
Phenotypes
  • {Stroke, hemorrhagic}
Tags
Red Red List (low evidence)
ADGRG1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
ANTXR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
Tags
Red Red List (low evidence)
ARX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
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 list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
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 list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
CENPJ
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 4 613676
Tags
Red Red List (low evidence)
CEP63
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 6 614728
Tags
Red Red List (low evidence)
COL4A1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
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
Tags
Red Red List (low evidence)
COL4A2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • {Hemorrhage, intracerebral, susceptibility to}, 614519
  • {Hemorrhage, intracerebral, susceptibility to}
Tags
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
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Pigmented Paravenous Chorioretinal Atrophy
Tags
Red Red List (low evidence)
CTSA
1 review
1 red
Unknown
Sources
  • Expert list
  • NHS GMS
  • Yorkshire and North East GLH
Tags
Red Red List (low evidence)
DCX
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
DNA2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 8 615807
Tags
Red Red List (low evidence)
ELN
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
  • Aneurysm, intracranial berry, 1 105800
Tags
Red Red List (low evidence)
FBN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Marfan syndrome 154700
Tags
Red Red List (low evidence)
FLT4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • Hemangioma, capillary infantile, somatic
Tags
Red Red List (low evidence)
FOXF1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Tags
Red Red List (low evidence)
GLA
1 review
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
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
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Glomuvenous malformations
  • Glomuvenous Malformation
Tags
Red Red List (low evidence)
GNAQ
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral diseases of vascular origin with epilepsy
  • Capillary malformations, congenital, 1, somatic, mosaic, 163000
Tags
  • currently-ngs-unreportable
  • mosaicism
Red Red List (low evidence)
HLA-B
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HLA-DQB1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HLA-DRB1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HTRA1
1 review
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Tags
Red Red List (low evidence)
IL6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Yorkshire and North East GLH
Phenotypes
  • {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
Tags
Red Red List (low evidence)
JAG1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Moyamoya disease
  • Alagille syndrome 1, 118450
Tags
Red Red List (low evidence)
KDR
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
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
Tags
Red Red List (low evidence)
LAMB1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
LAMC3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
LARGE1
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
MEF2C
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
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
Tags
Red Red List (low evidence)
NDE1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
NIN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 7 614851
Tags
Red Red List (low evidence)
NOTCH3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
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)
Tags
Red Red List (low evidence)
OCLN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
OPHN1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PAFAH1B1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PIK3CA
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
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
Tags
Red Red List (low evidence)
PIK3R2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMGNT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PTEN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Bannayan-Riley-Ruvalcaba Syndrome
Tags
Red Red List (low evidence)
RBBP8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 2 606744
Tags
Red Red List (low evidence)
RELN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
RTTN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
SMAD3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Tags
Red Red List (low evidence)
SMARCAL1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Red Red List (low evidence)
SRPX2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
STAMBP
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Other
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261
  • Microcephaly-capillary malformation syndrome
Tags
Red Red List (low evidence)
TEK
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Yorkshire and North East GLH
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, 600195
  • Multiple Cutaneous and Mucosal Venous Malformations
Tags
Red Red List (low evidence)
TGFB2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Tags
Red Red List (low evidence)
TGFBR1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Tags
Red Red List (low evidence)
TGFBR2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Tags
Red Red List (low evidence)
TMEM5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
  • new-gene-name
Red Red List (low evidence)
TRAIP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Seckel syndrome 9 616777
Tags
Red Red List (low evidence)
TUBA1A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBA8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBG1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
VLDLR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
WDR62
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Yorkshire and North East GLH
Phenotypes
  • Cerebral Malformation Disorders
Tags
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

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