Congenital myaesthenic syndrome

Gene: MYO9A

Green List (high evidence)

MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 5 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.

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • congenital myasthenic syndrome 24, presynaptic 618198
  • CMS
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MYO9A were set to 29462312; 27259756

16 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myo9a has been classified as Green List (High Evidence).

30 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MYO9A were set to 29462312

30 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MYO9A were changed from 27259756 to 29462312

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYO9A.

29 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to MYO9A.

28 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Feb 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MYO9A was created by rfoulger

27 Feb 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MYO9A was added to Congenital myaestheniapanel. Sources: Literature