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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