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Severe Paediatric Disorders

Gene: MITF

Green List (high evidence)

MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MITF; Recommended initial gene rating: Green List (high evidence); Phenotypes: COMMAD syndrome, 617306 (3) | Tietz albinism-deafness syndrome, 103500 (3) | Waardenburg syndrome, type 2A, 193510 (3) | Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Waardenburg syndrome, type 2A, 193510
  • Tietz albinism-deafness syndrome, 103500
  • Waardenburg syndrome/ocular albinism, digenic, 103470
  • COMMAD syndrome, 617306
OMIM
156845
Clinvar variants
Variants in MITF
Penetrance
None
Publications
Panels with this gene

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