ClinGen Gene Validity Curations

Gene: CRYM

Red List (low evidence)

CRYM (crystallin mu)
EnsemblGeneIds (GRCh38): ENSG00000103316
EnsemblGeneIds (GRCh37): ENSG00000103316
OMIM: 123740, Gene2Phenotype
CRYM is in 2 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • autosomal dominant nonsyndromic deafness 40
OMIM
123740
Clinvar variants
Variants in CRYM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Jun 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CRYM were set to 12471561;18448257;24676347;26915689;16740909;17264173

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CRYM was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYM was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen,Expert Review Red