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| Congenital Disorders of Glycosylation v0.358 | SLC35D1 | Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.357 | SLC35D1 | Zornitza Stark edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.357 | SLC35D1 | Zornitza Stark Marked gene: SLC35D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.357 | SLC35D1 | Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.357 | SLC35D1 | Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.356 | SLC35D1 | Zornitza Stark Publications for gene: SLC35D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.355 | SLC35D1 | Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.354 | SLC35D1 | Zornitza Stark reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | SLC35D1 |
Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC35D1 was set to Unknown |
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