Deafness_IsolatedAndComplex
Gene: CRYMEnsemblGeneIds (GRCh38): ENSG00000103316
EnsemblGeneIds (GRCh37): ENSG00000103316
OMIM: 123740, Gene2Phenotype
CRYM is in 4 panels
2 reviews
Paul De Fazio (Victorian Clinical Genetics Services)
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
Lilian Downie (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal dominant 40, MIM# 616357
- OMIM
- 123740
- Clinvar variants
- Variants in CRYM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crym has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crym has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CRYM were changed from Deafness, autosomal dominant 40, MIM# 616357 to Deafness, autosomal dominant 40, MIM# 616357
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CRYM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CRYM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CRYM were set to 12471561; 16740909; 18448257; 24676347; 26915689
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CRYM were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crym has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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