ClinGen Gene Validity Curations

Gene: USH1C

Green List (high evidence)

USH1C (USH1 protein network component harmonin)
EnsemblGeneIds (GRCh38): ENSG00000006611
EnsemblGeneIds (GRCh37): ENSG00000006611
OMIM: 605242, Gene2Phenotype
USH1C is in 9 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 1
  • OrphaNet ORPHA231169
  • OMIM276904
OMIM
605242
Clinvar variants
Variants in USH1C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

USH1C was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

USH1C was created by ellenmcdonagh

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

USH1C was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen