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| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.53 | MITF | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.52 | MITF | Achchuthan Shanmugasundram Tag watchlist was removed from gene: MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.52 | MITF |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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). |
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| DDG2P v3.12 | MITF | Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MITF |
Achchuthan Shanmugasundram 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 |
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| DDG2P v1.96 | MITF | Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.81 | MITF | Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.80 | MITF | Rebecca Foulger Classified gene: MITF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.80 | MITF | Rebecca Foulger Gene: mitf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MITF | Rebecca Foulger edited their review of gene: MITF: Added comment: 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.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MITF | Rebecca Foulger commented on gene: MITF: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MITF | Rebecca Foulger Tag watchlist tag was added to gene: MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MITF | Rebecca Foulger reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF Publications for gene MITF were changed from 8490648; 8589691; 7874167; 9856573 to 27889061 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF Publications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger Added phenotypes TIETZ SYNDROME 103500 for gene: MITF Publications for gene MITF were changed from 9158138 to 8589691; 10851256 |
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| DDG2P v0.1 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MITF were set to 9158138 Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470 |
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