Familial melanoma
Gene: MITF
MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 10 panels
1 review
Riyaad Aungraheeta (Bristol Genetics Laboratory)
The MITF E318K variant was enriched in this retrospective cohort of mucosal melanoma patients compared to population controls (OR 6.0; 95% CI 2.2–13.2).
Sources: LiteratureCreated: 28 May 2026, 4:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mucosal melanoma
Publications
- PMID: 42177185
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Phenotypes
-
- Mucosal melanoma
- OMIM
- 156845
- Clinvar variants
- Variants in MITF
- Penetrance
- None
- Publications
-
- PMID: 42177185
- Panels with this gene
History Filter Activity
28 May 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Riyaad Aungraheeta (Bristol Genetics Laboratory)gene: MITF was added gene: MITF was added to Familial melanoma. Sources: Literature Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MITF were set to PMID: 42177185 Phenotypes for gene: MITF were set to Mucosal melanoma Review for gene: MITF was set to AMBER