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| DDG2P v3.12 | PIGN | Achchuthan Shanmugasundram reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21493957, 36322149; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIGN |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGN. Mode of pathogenicity for gene PIGN was changed from Other - please provide details in the comments to Other Publications for gene: PIGN were updated from 21493957 to 21493957; 36322149 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PIGN | Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIGN |
Rebecca Foulger gene: PIGN was added gene: PIGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 21493957 Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 Mode of pathogenicity for gene: PIGN was set to Other - please provide details in the comments |
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