Hearing loss
Gene: CRYMI think the Abe et al 2003 publication referred to by Emma Ashton is PMID: 12471561 not PMID 420014Created: 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.
1 publication only 2 variants nonsyndromic deafness. Abe et al 2003 PMID 420014. No further DM report since. Nothing found by us. OMIM #616357Created: 17 Feb 2019, 4:35 p.m.
Publications
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.
very few convincing mutationsCreated: 13 Oct 2015, 8:27 p.m.
Publications for gene: CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354
This gene has been classified as Red List (Low Evidence).
Publications for CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354
Mode of inheritance for CRYM was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
CRYM was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert