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Inborn errors of metabolism

Gene: MAOA

Green List (high evidence)

MAOA (monoamine oxidase A)
EnsemblGeneIds (GRCh38): ENSG00000189221
EnsemblGeneIds (GRCh37): ENSG00000189221
OMIM: 309850, Gene2Phenotype
MAOA is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Created: 19 Aug 2019, 10:50 a.m. | Last Modified: 19 Aug 2019, 10:50 a.m.
Panel Version: 1.176

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Brunner syndrome 300615
  • {Antisocial behavior} 300615
OMIM
309850
Clinvar variants
Variants in MAOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MAOA were changed from Brunner syndrome to Brunner syndrome 300615; {Antisocial behavior} 300615

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAOA were set to 27604308

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAOA. Source London North GLH was added to MAOA.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MAOA was added gene: MAOA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAOA were set to 27604308 Phenotypes for gene: MAOA were set to Brunner syndrome