Deafness_Isolated
Gene: MIR96EnsemblGeneIds (GRCh38): ENSG00000199158
EnsemblGeneIds (GRCh37): ENSG00000199158
OMIM: 611606, Gene2Phenotype
MIR96 is in 5 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
2 families in single paper. expression studiesCreated: 31 Dec 2019, 1:45 a.m. | Last Modified: 31 Dec 2019, 1:45 a.m.
Panel Version: 0.81
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 Amber
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Phenotypes
-
- Deafness, autosomal dominant 50, MIM# 613074
- OMIM
- 611606
- Clinvar variants
- Variants in MIR96
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mir96 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MIR96 was added gene: MIR96 was added to DeafnessIsolated. Sources: Expert Review Amber,Melbourne Genomics Health Alliance Deafness Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR96 were set to 19363479; 29325119 Phenotypes for gene: MIR96 were set to Deafness, autosomal dominant 50, MIM# 613074