Description
Moyamoya disease (36611.1)
General imaging diagnostics refers to MRI brain, MRA brain, cerebral angiography and CT brain.

Moyamoya disease Eligibility (36614.1) 

Moyamoya disease Inclusion Criteria
-Bilateral intracranial occlusive arteriopathy, with or without basal collaterals, confirmed by review by an expert neuroradiologist

Prior Genetic Testing

Moyamoya disease Exclusion Criteria

Moyamoya disease Prior Testing Genes
These requirements will be kept under continual review during the main programme and may be subject to change.
            

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

20 genes

8 reviewed, 0 green

List Gene Reviews Mode of inheritance Details
20 genes
Amber Amber List (moderate evidence)
ACTA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Moyamoya disease 5
  • Moyamoya Disease
  • Moyamoya disease 5,614042
  • Aortic aneurysm familial thoracic 6,611788
  • Multisystemic smooth muscle dysfunction syndrome,613834
Amber Amber List (moderate evidence)
NOTCH3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • 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)
Red Red List (low evidence)
ABCC6
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
ATP7A
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
Red Red List (low evidence)
BRCC3
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
Red Red List (low evidence)
ELN
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
GLA
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
GUCY1A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Red Red List (low evidence)
HLA-B
1 review
Unknown
Sources
  • Expert list
Red Red List (low evidence)
HLA-DQB1
1 review
Unknown
Sources
  • Expert list
Red Red List (low evidence)
HLA-DRB1
1 review
Unknown
Sources
  • Expert list
Red Red List (low evidence)
HTRA1
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
JAG1
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
NF1
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
PCNT
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
RNF213
1 review
Unknown
Sources
  • Expert list
  • Other
Phenotypes
  • {Moyamoya disease 2, susceptibility to} 607151
Red Red List (low evidence)
SAMHD1
0 reviews
Unknown
Sources
  • Expert list
Red Red List (low evidence)
SLC2A10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome
No list No list
MYMY1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Removed
Phenotypes
  • Moyamoya disease
Tags
  • locus-type-phenotype-only
No list No list
MYMY3
2 reviews
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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