MITF

melanogenesis associated transcription factor
OMIM: 156845, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MITF in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306 Tietz albinism-deafness syndrome, MIM# 103500 Waardenburg syndrome, type 2A, MIM# 193510
Green MITF in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness
Green MITF in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 2A, MIM# 193510
Green MITF in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome
Red MITF in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp NHS Genomic Medicine Service Phenotypes Tietz albinism-deafness syndrome 103500
Green MITF in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness Tags deafness