Neurotransmitter Defects
Gene: MAOAEnsemblGeneIds (GRCh38): ENSG00000189221
EnsemblGeneIds (GRCh37): ENSG00000189221
OMIM: 309850, Gene2Phenotype
MAOA is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Increased serotonin. ID, autonomic dysfunction, essential tremor, behavioural abnormalities.Created: 23 Aug 2020, 8:47 a.m. | Last Modified: 23 Aug 2020, 8:47 a.m.
Panel Version: 0.53
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Brunner syndrome, MIM# 300615
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Brunner syndrome, MIM# 300615
- OMIM
- 309850
- Clinvar variants
- Variants in MAOA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: maoa has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAOA were changed from to Brunner syndrome, MIM# 300615
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MAOA were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MAOA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAOA was added gene: MAOA was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAOA was set to Unknown