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Hearing loss

Gene: CRYM

Red List (low evidence)

CRYM (crystallin mu)
EnsemblGeneIds (GRCh38): ENSG00000103316
EnsemblGeneIds (GRCh37): ENSG00000103316
OMIM: 123740, Gene2Phenotype
CRYM is in 2 panels

5 reviews

Eleanor Williams (Genomics England Curator)

I think the Abe et al 2003 publication referred to by Emma Ashton is PMID: 12471561 not PMID 420014
Created: 1 May 2019, 2:03 p.m.
After review with the NHS GMS hearing specialist group on 2019-02-13 it was decided to keep this gene red.
Created: 18 Feb 2019, 11:24 a.m.

Emma Ashton (Great Ormond Street Hospital)

I don't know

1 publication only 2 variants nonsyndromic deafness. Abe et al 2003 PMID 420014. No further DM report since. Nothing found by us. OMIM #616357
Created: 17 Feb 2019, 4:35 p.m.

Publications

  • 420014

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two reviewers suggesting this should be demoted from green to red due to unconvincing evidence at this time.
Created: 17 Feb 2016, 1 p.m.

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#616357:Deafness, autosomal dominant 40[<omim version=1.0><clinicalSynopsisList>]

Publications

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

very few convincing mutations
Created: 13 Oct 2015, 8:27 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • hearing loss
  • Deafness, autosomal dominant 40
OMIM
123740
Clinvar variants
Variants in CRYM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354

17 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CRYM was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert