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  2. Undiagnosed neurocutaneous disorders
  3. MITF
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Undiagnosed neurocutaneous disorders

Gene: MITF

Amber List (moderate evidence)
MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome, type 2A, 193510
  • Waardenburg syndrome/ocular albinism, digenic, 103470
  • Tietz albinism-deafness syndrome, 103500
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
  • Waardenburg Syndrome
OMIM
156845
Clinvar variants
Variants in MITF
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Dec 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Dec 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MITF was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen

10 Dec 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MITF was created by ellenmcdonagh