Congenital myaesthenic syndromeGene: MYO9A
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.
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
congenital myasthenic syndrome 24, presynaptic 618198; CMS
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.
Publications for gene: MYO9A were set to 29462312; 27259756
Gene: myo9a has been classified as Green List (High Evidence).
Publications for gene: MYO9A were set to 29462312
Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome; CMS to congenital myasthenic syndrome 24, presynaptic 618198; CMS
Publications for gene MYO9A were changed from 27259756 to 29462312
Source NHS GMS was added to MYO9A.
Source Wessex and West Midlands GLH was added to MYO9A.
This gene has been classified as Amber List (Moderate Evidence).
MYO9A was created by rfoulger
MYO9A was added to Congenital myaestheniapanel. Sources: Literature