Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: MYO9A

Amber List (moderate evidence)

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

1 review

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, 8:29 a.m. | Last Modified: 27 May 2022, 8:29 a.m.
Panel Version: 1.14
PMID: 26752647; 1 patient cHet for p.Gly2282Glu and p.Tyr203Cys. PMID: 27259756; 2 unrelated families. Patient 1: cHet for p.Arg1517His and p.Arg2283His. Patient 2&3 hom for p.Asp1698GLy. No functional studies on these variants.
Created: 4 Mar 2020, 4:50 a.m. | Last Modified: 4 Mar 2020, 4:50 a.m.
Panel Version: 0.1624

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome 24, presynaptic, MIM# 618198

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenic syndrome 24, presynaptic, MIM# 618198
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo9a has been classified as Amber List (Moderate Evidence).

4 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO9A were changed from to Congenital myasthenic syndrome 24, presynaptic, MIM# 618198

4 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO9A were set to

4 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYO9A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYO9A was added gene: MYO9A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYO9A was set to Unknown