MITF:Ensemblv90

melanogenesis associated transcription factor
OMIM: 156845, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green MITF in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Mendeliome Version 1.3802	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 Osteopetrosis Level 2: Skeletal disorders Version 0.98	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	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
Red MITF in NCGC Version 0.3	0 reviews	Other	Sources NCGC Phenotypes Hereditary cutaneous melanoma
Red MITF in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Hereditary cutaneous melanoma
Green MITF in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.84	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 1.23	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 1.482	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	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
Green MITF in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Osteopetrosis Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness
Green MITF in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Waardenburg syndrome, type 2A, MIM# 193510
Red MITF in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS Genomic Medicine Service Genomics England PanelApp Expert Review Red Phenotypes Tietz albinism-deafness syndrome 103500
Green MITF in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes COMMAD syndrome, MIM# 617306
Green MITF in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness Tags deafness