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Fetal anomalies

Gene: MAOA

Red List (low evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural features. Action taken: Demoted MAOA gene rating from Amber to Red.
Created: 29 Apr 2019, 2:52 p.m.
DDG2P rating in original PAGE list: Probable for BRUNNER SYNDROME
Created: 11 Dec 2018, 9:05 a.m.
The PAGE group will exclude MAOA from future inclusion lists.
Created: 8 Nov 2018, 4:46 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • BRUNNER SYNDROME
OMIM
309850
Clinvar variants
Variants in MAOA
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to MAOA. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MAOA was added gene: MAOA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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