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.
Panel Activity

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

8 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
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
Tags
Amber Amber List (moderate evidence)
NOTCH3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Tags
Red Red List (low evidence)
ABCC6
0 reviews
 Unknown
Sources
  • Expert list
Tags
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
Tags
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
Tags
Red Red List (low evidence)
ELN
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
GLA
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
GUCY1A3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
  • new-gene-name
Red Red List (low evidence)
HLA-B
1 review
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
HLA-DQB1
1 review
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
HLA-DRB1
1 review
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
HTRA1
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
JAG1
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
NF1
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
PCNT
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
RNF213
1 review
 Unknown
Sources
  • Expert list
  • Other
Phenotypes
  • {Moyamoya disease 2, susceptibility to} 607151
Tags
Red Red List (low evidence)
SAMHD1
0 reviews
 Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC2A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Arterial tortuosity syndrome
Tags
No list No list
MYMY1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Moyamoya disease
Tags
  • ensembl_ids_known_missing
  • locus-type-phenotype-only
No list No list
MYMY3
2 reviews
 Unknown
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Moyamoya disease 3
Tags
  • ensembl_ids_known_missing
  • locus-type-phenotype-only

Downloads

Download lists

Download Version