Deafness_IsolatedAndComplex
Gene: MSRB3
MSRB3 (methionine sulfoxide reductase B3)
EnsemblGeneIds (GRCh38): ENSG00000174099
EnsemblGeneIds (GRCh37): ENSG00000174099
OMIM: 613719, Gene2Phenotype
MSRB3 is in 5 panels
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 74, MIM# 613718
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- 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
31 Dec 2019, 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).
31 Dec 2019, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
31 Dec 2019, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MSRB3 were set to
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MSRB3 was added gene: MSRB3 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: MSRB3 was set to Unknown