Deafness_IsolatedAndComplex
Gene: CRYM
In addition to the previously described families, an additional Chinese NSHL family with a missense variant in CRYM was recently described.
The variant (Pro51Leu) has 2 hets in gnomad. The family consists of 30 individuals, 7 affected. The variant segregated with the phenotype.
This constitutes a third reported family.Created: 19 Feb 2021, 1:57 a.m. | Last Modified: 19 Feb 2021, 1:57 a.m.
Panel Version: 1.50
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 40 MIM#616357
Publications
Variants in this GENE are reported as part of current diagnostic practice
2 individual families on 1 publication (1 de novo, the other segregating with phenotype). Functional studies, all by same research group.Created: 31 Dec 2019, 12:29 a.m. | Last Modified: 31 Dec 2019, 12:29 a.m.
Panel Version: 0.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant hearing loss
Publications
Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Gene: crym has been classified as Green List (High Evidence).
Gene: crym has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYM were changed from Deafness, autosomal dominant 40, MIM# 616357 to Deafness, autosomal dominant 40, MIM# 616357
Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357
Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Publications for gene: CRYM were set to
Gene: crym has been classified as Amber List (Moderate Evidence).
gene: CRYM was added gene: CRYM was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CRYM was set to Unknown