Deafness_Isolated
Gene: MITF

MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families and animal models.
Created: 30 Sep 2020, 10:48 p.m. | Last Modified: 30 Sep 2020, 10:48 p.m.

Panel Version: 0.502

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Waardenburg syndrome, type 2A, MIM# 193510

Publications

Created: 30 Sep 2020, 10:48 p.m.
Last Modified: 30 Sep 2020, 10:48 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.502

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Waardenburg syndrome, type 2A, MIM# 193510

OMIM

156845

Clinvar variants

Variants in MITF

Penetrance

None

Publications

Panels with this gene