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| DDG2P v3.12 | ENPP1 | Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ENPP1 | Achchuthan Shanmugasundram Publications for gene: ENPP1 were updated from 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 to 20137773; 12881724; 20137772; 15940697; 11159191; 19206175; 22209248; 15605415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ENPP1 | Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ENPP1 |
Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 for gene: ENPP1 Publications for gene ENPP1 were changed from 20137773; 20137772 to 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 |
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| DDG2P v0.1 | ENPP1 |
Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENPP1 were set to 20137773; 20137772 Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 |
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