ClinGen Gene Validity Curations

Gene: USH2A

Green List (high evidence)

USH2A (usherin)
EnsemblGeneIds (GRCh38): ENSG00000042781
EnsemblGeneIds (GRCh37): ENSG00000042781
OMIM: 608400, Gene2Phenotype
USH2A is in 10 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Usher syndrome type 2
  • OrphaNet ORPHA231178
  • OMIM276901
OMIM
608400
Clinvar variants
Variants in USH2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

USH2A was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

USH2A was created by ellenmcdonagh