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Deafness_Isolated

Gene: CRYM

Green List (high evidence)
CRYM (crystallin mu)
EnsemblGeneIds (GRCh38): ENSG00000103316
EnsemblGeneIds (GRCh37): ENSG00000103316
OMIM: 123740, Gene2Phenotype
CRYM is in 4 panels

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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, 1:59 a.m. | Last Modified: 19 Feb 2021, 1:59 a.m.
Panel Version: 1.5

Phenotypes
Deafness, autosomal dominant 40 MIM#616357

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Feb 2021, 1:59 a.m.
Last Modified: 19 Feb 2021, 1:59 a.m.
Panel version: 1.5

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

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

Created: 31 Dec 2019, 12:29 a.m.
Last Modified: 31 Dec 2019, 12:29 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
Phenotypes
  • Deafness, autosomal dominant 40, MIM# 616357
OMIM
123740
Clinvar variants
Variants in CRYM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crym has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crym has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CRYM was added gene: CRYM was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYM were set to 16740909; 24676347; 18448257; 26915689; 12471561 Phenotypes for gene: CRYM were set to Deafness, autosomal dominant 40, MIM# 616357