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Fetal anomalies

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.

However, also note reports of fetal akinesia and hydrocephalus, which are pertinent to this panel.
Created: 27 May 2022, 8:34 a.m. | Last Modified: 27 May 2022, 8:37 a.m.
Panel Version: 1.32
Decreased fetal movements, contractures.
Created: 14 Feb 2022, 3:17 a.m. | Last Modified: 14 Feb 2022, 3:17 a.m.
Panel Version: 0.3398

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO9A were set to 27259756; 29462312; 26752647

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).

14 Feb 2022, 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).

14 Feb 2022, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYO9A was added gene: MYO9A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO9A were set to 27259756; 29462312; 26752647 Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597