Activity
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10 actions
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| DDG2P v6.286 | PIGN | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGN was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PIGN | Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21493957, 24253414, 24852103, 26364997, 26394714, 26419326, 27038415, 27300081, 29096607, 29330547, 32585529, 33193741, 33966742, 34051595, 35468813, 35812661, 36322149, 36363484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01414.; Changed publications to: 29096607, 34051595, 35812661, 27038415, 24253414, 26419326, 26394714, 27300081, 24852103, 35468813, 33966742, 26364997, 36363484, 29330547, 36322149, 21493957, 32585529, 33193741; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0013563, OMIM:614080.0, PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.35 | PIGN | Achchuthan Shanmugasundram Phenotypes for gene: PIGN were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080 to PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.34 | PIGN | Achchuthan Shanmugasundram Publications for gene: PIGN were set to 21493957; 36322149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.33 | PIGN | Achchuthan Shanmugasundram edited their review of gene: PIGN: Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | PIGN | Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category for the disease PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 26364997;35468813;34051595;32585529;33193741;27300081;27038415;24852103;33966742;21493957;29096607;26419326;26394714;29330547;24253414;36363484;35812661;36322149).; Changed publications to: 33966742, 26364997, 29330547, 35468813, 34051595, 29096607, 26419326, 36322149, 24852103, 35812661, 27038415, 36363484, 26394714, 27300081, 21493957, 33193741, 24253414, 32585529; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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