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Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Marked gene: EOGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Gene: eogt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.118 | EOGT | Seb Lunke Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.117 | EOGT | Seb Lunke Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.96 | EOGT | Dean Phelan reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23522784, 31368252, 29924900; Phenotypes: scalp aplasia cutis congenita, transverse terminal limb defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.0 | EOGT |
Zornitza Stark gene: EOGT was added gene: EOGT was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EOGT was set to Unknown |