Congenital myaesthenic syndrome
Gene: MYO9A

MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.
Created: 16 Oct 2019, 11:40 a.m. | Last Modified: 16 Oct 2019, 11:40 a.m.

Panel Version: 1.55

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Created: 30 Apr 2019, 9:30 a.m.

Panel version: 1.61

Michael Oldridge (NHS)

Green List (high evidence)

2 unrelated cases (hom and comp het), second animal model paper (29462312) shows MYO9A important for neuronal cytoskeleton and transport of proteins, including agrin. Upgrade to green
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myasthenic syndrome 24, presynaptic 618198; CMS

Publications

29462312

Created: 29 Apr 2019, 4:33 p.m.

Panel version: 1.14

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber: MYO9A was added to panel on recommendation by David Beeson. 2 unrelated cases plus animal model from zebrafish (and mouse cell lines) all in one paper. Further cases required to be confident of causation, hence Amber.
Created: 28 Feb 2017, 4:15 p.m.

PMID:27259756 (O'Connor et al., 2016) identify biallelic mutations in MYO9A in 2 unrelated families with myaesthenic symptoms (A German girl, and 2 Kurdish siblings). rs150726107 (D1698G) is homozygous in the sibling pair (parents both heterozygous). rs149046541 (R1517H) and rs142345927 (R2283H) are compound heterozygous in the German girl. They also provide mouse and zebrafish models to show that zebrafish MYO9A is involved in the formation of the neuromuscular junction during development, and knockdown of MYO9A in mouse motor neuron cell line causes increased length and branching of neurites.

Created: 27 Feb 2017, 9:57 a.m.

Created: 27 Feb 2017, 9:57 a.m.

Panel version: 1.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH
Literature

Phenotypes

Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597

OMIM

604875

Clinvar variants

Variants in MYO9A

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome 24, presynaptic 618198; CMS to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597

16 Oct 2019, Gel status: 3