Gene Symbol:
MITF
HGNC:7105
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p13
Filters:

Definitive classifications

ocular albinism with congenital sensorineural hearing loss
Submitted as: OMIM:103470
AD
08/29/2017
Evaluated
09/11/2023
Submitted
Tietz syndrome
Submitted as: OMIM:103500
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Waardenburg syndrome type 2A
Submitted as: OMIM:193510
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Waardenburg syndrome type 2
AD
11/21/2017
Evaluated
04/21/2024
Submitted

Strong classifications

Waardenburg syndrome type 2A
Submitted as: OMIM:193510
AD
10/09/2020
Evaluated
11/09/2020
Submitted
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Submitted as: OMIM:617306
AR
03/21/2017
Evaluated
09/11/2023
Submitted
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Submitted as: OMIM:617306
AR
12/28/2020
Evaluated
12/30/2020
Submitted
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Submitted as: OMIM:617306
AR
12/15/2018
Evaluated
11/30/2023
Submitted
melanoma, cutaneous malignant, susceptibility to, 8
Submitted as: OMIM:614456
AD
09/06/2021
Evaluated
11/30/2023
Submitted
Waardenburg syndrome type 2A
Submitted as: OMIM:193510
AD
11/08/2022
Evaluated
11/30/2023
Submitted

Moderate classifications

renal cell carcinoma
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Tietz syndrome
Submitted as: OMIM:103500
AD
08/31/2018
Evaluated
12/24/2020
Submitted
melanoma, cutaneous malignant, susceptibility to, 8
Submitted as: OMIM:614456
AD
12/29/2021
Evaluated
08/19/2023
Submitted

Supportive classifications

Waardenburg syndrome type 2
Submitted as: Orphanet:895
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Waardenburg-Shah syndrome
Submitted as: Orphanet:897
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Tietz syndrome
Submitted as: Orphanet:42665
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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