Dystonia - childhood onset
Gene: MAOA

MAOA (monoamine oxidase A)
EnsemblGeneIds (GRCh38): ENSG00000189221
EnsemblGeneIds (GRCh37): ENSG00000189221
OMIM: 309850, Gene2Phenotype
MAOA is in 8 panels

0 reviews

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