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| DDG2P v3.12 | PAFAH1B1 | Achchuthan Shanmugasundram reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15007136, 10441340, 11502906, 14581661; Phenotypes: LISSENCEPHALY TYPE 1, OMIM:607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FAH | Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7977370, 8829657, 7757089, 1401056, 8364576, 8162054, 11196105, 8318997; Phenotypes: TYROSINEMIA TYPE 1, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAFAH1B1 | Achchuthan Shanmugasundram Publications for gene: PAFAH1B1 were updated from 14581661; 10441340; 11502906; 15007136 to 15007136; 10441340; 11502906; 14581661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FAH | Achchuthan Shanmugasundram Publications for gene: FAH were updated from 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 to 7977370; 8829657; 1401056; 8318997; 8364576; 8162054; 11196105; 7757089 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAFAH1B1 | Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FAH | Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAFAH1B1 | Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 for gene: PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAFAH1B1 |
Rebecca Foulger gene: PAFAH1B1 was added gene: PAFAH1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAFAH1B1 were set to 14581661; 10441340; 11502906; 15007136 Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 607432 |
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| DDG2P v0.1 | FAH |
Rebecca Foulger gene: FAH was added gene: FAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 276700 |
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