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Gene: MAOA

Green List (high evidence)
MAOA (monoamine oxidase A)
EnsemblGeneIds (GRCh38): ENSG00000189221
EnsemblGeneIds (GRCh37): ENSG00000189221
OMIM: 309850, Gene2Phenotype
MAOA is in 6 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Brunner syndrome is characterized by borderline intellectual disability (ID), prominent behavioral abnormalities including aggressive and violent behavior, and deficiency of monoamine oxidase A enzymatic activity.

HGNC approved symbol/name: MAOA
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 29 Jan 2025, 3:06 a.m. | Last Modified: 29 Jan 2025, 3:06 a.m.
Panel Version: 1.1357

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Brunner syndrome, MIM# 300615

Publications

Created: 29 Jan 2025, 3:06 a.m.
Last Modified: 29 Jan 2025, 3:06 a.m.
Panel version: 1.1357

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brunner syndrome, MIM# 300615
OMIM
309850
Clinvar variants
Variants in MAOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: maoa has been classified as Green List (High Evidence).

29 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAOA were changed from Brunner syndrome, 300615 (3) to Brunner syndrome, MIM# 300615

29 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAOA were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAOA was added gene: MAOA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)