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| DDG2P v3.12 | OTC | Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH3 | Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: Other; Publications: 23731542; Phenotypes: INFANTILE MYOFIBROMATOSIS, OMIM:615293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH2 | Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NOTCH1 | Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OTC | Achchuthan Shanmugasundram Publications for gene: OTC were updated from 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 to 1480464; 7860064; 2347583; 3170748; 2037279; 9056557; 2035531; 11260212; 10405441; 1721894; 1353535; 2843770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOTCH3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOTCH2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856 |
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| DDG2P v3.11 | NOTCH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH1. Publications for gene: NOTCH1 were updated from 25132448 to 25132448; 16025100 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | OTC | Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH3 | Rebecca Foulger reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH2 | Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOTCH1 | Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | OTC |
Rebecca Foulger gene: OTC was added gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 |
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| DDG2P v0.1 | NOTCH3 |
Rebecca Foulger gene: NOTCH3 was added gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293 Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH2 |
Rebecca Foulger gene: NOTCH2 was added gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985 Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500 Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1 Publications for gene NOTCH1 were changed from 16025100 to 25132448 |
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| DDG2P v0.1 | NOTCH1 |
Rebecca Foulger gene: NOTCH1 was added gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH1 were set to 16025100 Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730 |
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