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Congenital Disorders of Glycosylation v0.339 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.339 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.339 | EXT2 | Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.338 | EXT2 | Zornitza Stark Publications for gene: EXT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.337 | EXT2 | Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.336 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.0 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EXT2 was set to Unknown |