Neurotransmitter disorders
Gene: MAOAComment on list classification: Changed status to Green due to expert reviews and evidence in the literature to support the phenotypeCreated: 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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for MAOA were set to 24169519; 8211186;27830117
Phenotypes for MAOA were set to Brunner syndrome, 300615; Monoamine oxidase A deficiency
Publications for MAOA were set to 24169519;8211186
MAOA was added to Neurotransmitter disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
This gene has been classified as Green List (High Evidence).
Publications for MAOA were set to 24169519
Publications for MAOA were set to 24169519
Phenotypes for MAOA were set to Brunner syndrome, 300615
Phenotypes for MAOA were set to Brunner syndrome, 300615
MAOA was created by Manju
MAOA was added to Neurotransmitter disorderspanel. Sources: Literature