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| DDG2P v6.17 | FGF13 | Achchuthan Shanmugasundram edited their review of gene: FGF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and gain of function (PMIDs: 27073347, 33245860, 34184986). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03095. The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are limited, monoallelic_X_heterozygous and gain of function (PMIDs: 33245860, 34871784, 37536293). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03096.; Changed publications to: 27073347, 34871784, 37536293, 34184986, 33245860; Changed phenotypes to: FGF13-related neurodevelopmental disorder (X-linked dominant), OMIM:301058.0, MONDO:0025353, FGF13-related neurodevelopmental disorder, FGF13-related neurodevelopmental disorder (hemizygous); Changed 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 v6.16 | FGF13 | Achchuthan Shanmugasundram Mode of inheritance for gene FGF13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FGF13 | Achchuthan Shanmugasundram reviewed gene: FGF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33245860; Phenotypes: FGF13-related neurodevelopmental disorder (X-linked dominant), FGF13-related neurodevelopmental disorder (hemizygous); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FGF13 |
Achchuthan Shanmugasundram gene: FGF13 was added gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF13 were set to 33245860 Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous) Mode of pathogenicity for gene: FGF13 was set to Other |
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