Cerebral Palsy
Gene: MAOB
MAOB (monoamine oxidase B)
EnsemblGeneIds (GRCh38): ENSG00000069535
EnsemblGeneIds (GRCh37): ENSG00000069535
OMIM: 309860, Gene2Phenotype
MAOB is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000069535
EnsemblGeneIds (GRCh37): ENSG00000069535
OMIM: 309860, Gene2Phenotype
MAOB is in 2 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Identified in 2 unrelated individuals with CP (with same variant also identified in unaffected monozygotic twin) in a gene not currently known to be associated disease.
Sources: LiteratureCreated: 27 Sep 2021, 6:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Cerebral palsy
- OMIM
- 309860
- Clinvar variants
- Variants in MAOB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: maob has been classified as Red List (Low Evidence).
27 Sep 2021, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAOB were changed from to Cerebral palsy
27 Sep 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: maob has been classified as Red List (Low Evidence).
27 Sep 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications
Krithika Murali (Victorian Clinical Genetics Services)gene: MAOB was added gene: MAOB was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MAOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAOB were set to 31700678 Review for gene: MAOB was set to RED