This Panel is marked as Retired
Multiple Tumours
Gene: MITF
MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: On the UKGTN Hereditary Cancer and Fanconi Anaemia 94 gene panel.Created: 18 Apr 2017, 2:45 p.m.
Information from TruSight panel: Pathogenic Mutations are Activating.Created: 5 Feb 2016, 11:46 a.m.
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Melanoma
- OMIM
- 156845
- Clinvar variants
- Variants in MITF
- Penetrance
- Complete
- Publications
-
- Bertolotto C, et al., 2011 Nature 480, 94-8 A SUM Oylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
18 Apr 2017, Gel status: 2
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for MITF was changed to Other - please provide details in the comments
18 Apr 2017, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MITF were set to Bertolotto C, et al., 2011 Nature 480, 94-8 A SUM Oylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MITF was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MITF was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)