Activity
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9 actions
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| DDG2P v6.43 | ALG13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALG13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ALG13 | Achchuthan Shanmugasundram edited their review of gene: ALG13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALG13-related congenital disorder of glycosylation are strong, monoallelic_X_heterozygous and undetermined (PMIDs: 22492991, 23934111, 28887793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01271.; Changed publications to: 28887793, 23934111, 22492991; Changed phenotypes to: OMIM:300884.0, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884, MONDO:0010472, ALG13-related congenital disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ALG13 | Achchuthan Shanmugasundram reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22492991, 23934111, 28887793; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ALG13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13. Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | ALG13 | Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALG13 |
Rebecca Foulger Added phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884 for gene: ALG13 Publications for gene ALG13 were changed from 23934111 to 22492991 |
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| DDG2P v0.1 | ALG13 | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALG13 | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ALG13 |
Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ALG13 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 23934111 Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES. Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments |
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