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Deafness_IsolatedAndComplex

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, 1:57 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)

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

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

19 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

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).

31 Dec 2019, 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).

31 Dec 2019, Gel status: 2

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

31 Dec 2019, Gel status: 2

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

31 Dec 2019, Gel status: 2

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

31 Dec 2019, Gel status: 2

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

31 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CRYM were changed from to Deafness, autosomal dominant 40, MIM# 616357

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CRYM were set to

31 Dec 2019, 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).

17 Nov 2019, Gel status: 3

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