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| Congenital Disorders of Glycosylation v1.37 | CSGALNACT1 | Zornitza Stark Phenotypes for gene: CSGALNACT1 were changed from Congenital disorder of glycosylation; skeletal dysplasia to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.36 | CSGALNACT1 | Zornitza Stark edited their review of gene: CSGALNACT1: Changed phenotypes: Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.46 | CSGALNACT1 | Zornitza Stark Marked gene: CSGALNACT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.46 | CSGALNACT1 | Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.46 | CSGALNACT1 | Zornitza Stark Classified gene: CSGALNACT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.46 | CSGALNACT1 | Zornitza Stark Gene: csgalnact1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.45 | CSGALNACT1 |
Zornitza Stark gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSGALNACT1 were set to 31705726; 31325655 Phenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; skeletal dysplasia Review for gene: CSGALNACT1 was set to GREEN Added comment: Four unrelated families reported. Sources: Literature |
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