Neurotransmitter disorders
Gene: MAOA

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert reviews and evidence in the literature to support the phenotype
Created: 25 May 2017, 12:37 p.m.

Comment on publications: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 2 variants reported in two families.
Created: 25 May 2017, 12:36 p.m.

Comment on phenotypes:from OMIM: Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency.
MAOA encodes for monoamine oxidase A, an enzyme that degrades amine neurotransmitters such as dopamine, norepinephrine, and serotonin.
Created: 25 May 2017, 12:23 p.m.

Created: 25 May 2017, 12:15 p.m.

Panel version: 0.43

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 1 Mar 2017, 1:22 p.m.

Panel version: 0.10

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

Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert Review Green

Phenotypes

Brunner syndrome, 300615
Monoamine oxidase A deficiency

OMIM

309850

Clinvar variants

Variants in MAOA

Penetrance

Complete

Publications

Panels with this gene