Description
This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.

Consider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.

3 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Seb Lunke (Victorian Clinical Genetics Services)

4 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green Green List (high evidence)
ARHGEF15
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain small vessel disease 5 with osteoporosis, MIM# 621331
Tags
Green Green List (high evidence)
MT-CO1
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Tags
  • mtDNA
Green Green List (high evidence)
MT-CO2
1 review
1 green
MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Tags
  • mtDNA
Green Green List (high evidence)
RNF213
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Moyamoya disease, MONDO:0016820
  • pediatric arterial ischemic stroke, MONDO:0018585
Tags

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