ClinGen Gene Validity Curations

Gene: MYO9A

Red List (low evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
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). Available here: https://search.clinicalgenome.org/kb/gene-validity/5465
Created: 20 Jun 2017, 3:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
  • Other
Phenotypes
  • Arthrogryposis
  • OrphaNet: ORPHA109007
OMIM
604875
Clinvar variants
Variants in MYO9A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO9A was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Jun 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).

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYO9A was created by ellenmcdonagh

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO9A was added to ClinGen Gene Validity Curationspanel. Sources: Other