Anophthalmia_Microphthalmia_Coloboma
Gene: MITFEnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Bi-allelic variants in this gene are associated with coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. Two families and mouse model.Created: 28 Dec 2020, 8:26 a.m. | Last Modified: 28 Dec 2020, 8:26 a.m.
Panel Version: 0.177
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMMAD syndrome, MIM# 617306
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- COMMAD syndrome, MIM# 617306
- OMIM
- 156845
- Clinvar variants
- Variants in MITF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MITF were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mitf has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MITF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MITF was added gene: MITF was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MITF was set to Unknown