MITF

melanogenesis associated transcription factor
OMIM: 156845, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red MITF in Ocular and oculo-cutaneous albinism Version 1.24	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 Level 2: Inherited cancer Version 1.28 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 Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes COMMAD syndrome, OMIM:617306 Tags watchlist
Green MITF in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Green NHS GMS Phenotypes COMMAD syndrome, 617306 Waardenburg syndrome, type 2a, WS2A, 193510