Activity
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6 actions
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| DDG2P v6.17 | PEX14 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: PEX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PEX14 | Achchuthan Shanmugasundram edited their review of gene: PEX14: Added comment: The DDG2P confidence category for the disease PEX14-related autosomal dominant Zellweger spectrum disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37493040). The DDG2P confidence category for the disease PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; Changed publications to: 37493040; Changed phenotypes to: PEX14-related autosomal dominant Zellweger spectrum disorder, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX14 | Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX14 | Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX14 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 for gene: PEX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX14 |
Rebecca Foulger gene: PEX14 was added gene: PEX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME 214100 |
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