Inherited renal cancer
Gene: MITFEnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 31 Jul 2019, 12:51 p.m. | Last Modified: 31 Jul 2019, 12:56 p.m.
Panel Version: 0.38
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 156845
- Clinvar variants
- Variants in MITF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MITF were changed from to {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456; Renal cell carcinoma (disease), MONDO:0005086
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MITF were set to 27899189
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: MITF were set to PMID: 27899189
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: mitf has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Rachel Robinson (Leeds Genetics Laboratory)gene: MITF was added gene: MITF was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MITF were set to PMID: 27899189 gene: MITF was marked as current diagnostic