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DDG2P v3.12 | OGT | Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); 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 v3.12 | EOGT | Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 23522784; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | OGT |
Achchuthan Shanmugasundram gene: OGT was added gene: OGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OGT were set to OGT-related developmental disorder (hemizygous); OGT-related developmental disorder (X-linked dominant) |
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DDG2P v0.2 | EOGT | Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784 Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |