Childhood onset dystonia, chorea or related movement disorder
Gene: MAOA

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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

PanelApp
Expert Review Red
London North GLH

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

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to MAOA. Mode of inheritance for gene MAOA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Brunner syndrome, 300615; Monoamine oxidase A deficiency for gene: MAOA Publications for gene MAOA were changed from to 8211186; 27830117; 24169519