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  3. MSRB3
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Deafness_Isolated

Gene: MSRB3

Green List (high evidence)
MSRB3 (methionine sulfoxide reductase B3)
EnsemblGeneIds (GRCh38): ENSG00000174099
EnsemblGeneIds (GRCh37): ENSG00000174099
OMIM: 613719, Gene2Phenotype
MSRB3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Multiple families and mouse model.
Created: 31 Dec 2019, 1:43 a.m. | Last Modified: 31 Dec 2019, 1:43 a.m.
Panel Version: 0.79

Phenotypes
Deafness, autosomal recessive 74, MIM# 613718

Publications

Created: 31 Dec 2019, 1:43 a.m.
Last Modified: 31 Dec 2019, 1:43 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 74, MIM# 613718
OMIM
613719
Clinvar variants
Variants in MSRB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msrb3 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MSRB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSRB3 was added gene: MSRB3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSRB3 was set to Unknown Publications for gene: MSRB3 were set to 21185009; 24191262; 19650862 Phenotypes for gene: MSRB3 were set to Deafness, autosomal recessive 74, MIM# 613718