DDG2P
Gene: MITF

MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061).

The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256).

The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 7 Oct 2023, 8:07 a.m.

Panel Version: 3.52

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 7 Oct 2023, 8:07 a.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 4:37 p.m.

Multiple MOPs in DD-G2P download: loss of function, uncertain. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated confirmed for WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470, TIETZ SYNDROME 103500 and WAARDENBURG SYNDROME TYPE 2A 193510. Rated probable for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Created: 19 Nov 2018, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.55

Details

Mode of Inheritance

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

OMIM

156845

Clinvar variants

Variants in MITF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: MITF.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were updated from 27889061 to 8490648; 9158138; 10851256; 7874167; 9856573; 8589691; 27889061

3 Oct 2019, Gel status: 3