Dystonia - childhood onset

Gene: MAOA

Green List (high evidence)

MAOA (monoamine oxidase A)
EnsemblGeneIds (GRCh38): ENSG00000189221
EnsemblGeneIds (GRCh37): ENSG00000189221
OMIM: 309850, Gene2Phenotype
MAOA is in 10 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Brunner syndrome, 300615
  • Monoamine oxidase A deficiency
OMIM
309850
Clinvar variants
Variants in MAOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MAOA was added gene: MAOA was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MAOA were set to 8211186; 27830117; 24169519 Phenotypes for gene: MAOA were set to Brunner syndrome, 300615; Monoamine oxidase A deficiency