Neuromuscular arthrogryposis

Gene: MYO9A

Amber List (moderate evidence)

MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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: 28 Apr 2019, 6:36 p.m.

Michael Oldridge (NHS)

I don't know

one patient
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome 24, presynaptic 618198; CMS

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic 618198
  • CMS
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYO9A.

28 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to MYO9A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

28 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: MYO9A was added gene: MYO9A was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to 26752647 Phenotypes for gene: MYO9A were set to Congenital myasthenic syndrome 24, presynaptic 618198; CMS