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  3. MYO9A
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Arthrogryposis

Gene: MYO9A

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

2 reviews

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, 8:28 a.m. | Last Modified: 27 May 2022, 8:28 a.m.
Panel Version: 0.343

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198

Created: 27 May 2022, 8:28 a.m.
Last Modified: 27 May 2022, 8:28 a.m.
Panel version: 0.343

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 27 Aug 2020, 12:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198

Publications

Created: 27 Aug 2020, 12:36 a.m.

Panel version: 0.203

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO9A were changed from MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198

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).

27 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

27 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

27 Aug 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: MYO9A was added gene: MYO9A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to 26752647; 27259756 Phenotypes for gene: MYO9A were set to MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 Review for gene: MYO9A was set to GREEN