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BabyScreen+ newborn screening

Gene: CRYM

Red List (low evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Dominant hearing loss
One paper infant onset, the other all adult onset
Sources: Expert list
Created: 30 Mar 2023, 1:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 40 MIM#616357

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 40 MIM#616357
OMIM
123740
Clinvar variants
Variants in CRYM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crym has been classified as Red List (Low Evidence).

30 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: crym has been classified as Red List (Low Evidence).

30 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: CRYM was added gene: CRYM was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: CRYM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRYM were set to PMID: 12471561, 32742378 Phenotypes for gene: CRYM were set to Deafness, autosomal dominant 40 MIM#616357 Review for gene: CRYM was set to RED