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Congenital Disorders of Glycosylation v0.246 | CHST14 | Zornitza Stark Marked gene: CHST14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.246 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.246 | CHST14 | Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.245 | CHST14 | Zornitza Stark Publications for gene: CHST14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.244 | CHST14 | Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.243 | CHST14 | Zornitza Stark reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: None; Publications: 26373698; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.0 | CHST14 |
Zornitza Stark gene: CHST14 was added gene: CHST14 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHST14 was set to Unknown |