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  3. MYO9A
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Arthrogryposis

Gene: MYO9A

Red List (low evidence)
MYO9A (myosin IXA)
EnsemblGeneIds (GRCh38): ENSG00000066933
EnsemblGeneIds (GRCh37): ENSG00000066933
OMIM: 604875, Gene2Phenotype
MYO9A is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Source: ClinGen Gene Validity Classification Summary. Determined as LIMITED by calculated classification (dated: 09/08/2016) and LIMITED by Expert curation (dated 11/24/2016). For the full report and publications, see the ClinGen Gene Validity Curation available here: https://search.clinicalgenome.org/kb/gene-validity/5465.
Created: 4 Jul 2017, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis; OrphaNet: ORPHA109007

Publications

Created: 4 Jul 2017, 2:33 p.m.

Panel version: 2.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198
  • Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYO9A were changed from Arthrogryposis; OrphaNet: ORPHA109007 to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597

4 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYO9A was created by ellenmcdonagh

4 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO9A was added to Arthrogryposispanel. Sources: Other