1. Genes and Genomic Entities
  2. MITF

MITF

melanogenesis associated transcription factor
OMIM: 156845, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red MITF in Ocular and oculo-cutaneous albinism


Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Waardenburg syndrome/ocular albinism, digenic,103470
  • Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A)
  • Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Amber MITF in Inherited renal cancer


Version 1.27
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
Phenotypes
  • {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456
  • Renal cell carcinoma (disease), MONDO:0005086
Green MITF in Pigmentary skin disorders


Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • COMMAD, WAARDENBURG SYNDROME, TYPE 2A
  • COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
  • Waardenburg syndrome
  • WS2A
Red MITF in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A)
  • Waardenburg syndrome/ocular albinism, digenic,103470
  • Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Amber MITF in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM
  • Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
  • WAARDENBURG SYNDROME TYPE 2A
  • TIETZ SYNDROME
  • COMMAD syndrome, 617306
  • Tietz albinism-deafness syndrome, 103500
  • Waardenburg syndrome, type 2A, 193510
  • Waardenburg syndrome/ocular albinism, digenic, 103470
Tags
  • watchlist
Green MITF in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • TIETZ SYNDROME, OMIM:103500
    • WAARDENBURG SYNDROME TYPE 2A, OMIM:193510
    • Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
    Green MITF in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Waardenburg syndrome, type 2A, 193510
    • Waardenburg syndrome/ocular albinism, digenic, 103470
    • Tietz albinism-deafness syndrome, 103500
    • {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
    Red MITF in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Waardenburg syndrome, type 2A, 193510
    • Waardenburg
    • syndrome/ocular albinism, digenic, 103470
    • Tietz albinism-deafness syndrome, 103500
    • {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456
    Green MITF in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • COMMAD syndrome, 617306
    • Waardenburg syndrome, type 2a, WS2A, 193510
    Green MITF in Severe Paediatric Disorders


    Version 1.184

    		review 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