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| 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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