Cerebral Palsy
Gene: MYO9A
MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 19 Jun 2024, 4:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198
- OMIM
- 604875
- Clinvar variants
- Variants in MYO9A
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myo9a has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myo9a has been classified as Red List (Low Evidence).
19 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: MYO9A was added gene: MYO9A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to PMID: 38693247 Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198 Review for gene: MYO9A was set to RED