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| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.51 | MAFB | Achchuthan Shanmugasundram Phenotypes for gene: MAFB were changed from MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300; Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.50 | MAFB | Achchuthan Shanmugasundram Tag watchlist was removed from gene: MAFB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAFB | Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAF | Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAFB | Achchuthan Shanmugasundram Publications for gene: MAFB were updated from 27181683 to 27181683; 22387013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAF |
Achchuthan Shanmugasundram Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690 |
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| DDG2P v0.78 | MAFB | Rebecca Foulger Classified gene: MAFB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.78 | MAFB | Rebecca Foulger Gene: mafb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | MAFB | Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.25 | MAF | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.25 | MAF | Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MAFB | Rebecca Foulger Tag watchlist tag was added to gene: MAFB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | MAFB | Rebecca Foulger commented on gene: MAFB: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAFB | Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAF | Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAFB |
Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB Publications for gene MAFB were changed from 22387013 to 27181683 |
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| DDG2P v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAFB were set to 22387013 Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300 |
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| DDG2P v0.1 | MAF | Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAF |
Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF Publications for gene MAF were changed from to 16470690; 11772997 |
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| DDG2P v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments |
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