Congenital Myasthenia
Gene: MYO9A

MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.
Created: 27 May 2022, 8:33 a.m. | Last Modified: 27 May 2022, 8:33 a.m.

Panel Version: 1.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198)

Created: 27 May 2022, 8:33 a.m.
Last Modified: 27 May 2022, 8:33 a.m.
Panel version: 1.5

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26752647; 1 patient cHet for p.Gly2282Glu and p.Tyr203Cys.

PMID: 27259756; 2 unrelated families. Patient 1: cHet for p.Arg1517His ad p.Arg2283His. Patient 2&3 hom for p.Asp1698GLy.

No functional studies on these variants.
Created: 3 Mar 2020, 11:06 p.m. | Last Modified: 3 Mar 2020, 11:06 p.m.

Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198)

Publications

PMID: 26752647
27259756

Created: 3 Mar 2020, 11:06 p.m.
Last Modified: 3 Mar 2020, 11:06 p.m.
Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Congenital myasthenic syndrome 24, presynaptic 618198

OMIM

604875

Clinvar variants

Variants in MYO9A

Penetrance

None

Publications

Panels with this gene