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| Congenital disorders of glycosylation v2.80 | CSGALNACT1 | Sarah Leigh Tag for-review was removed from gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.80 | CSGALNACT1 | Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.80 | CSGALNACT1 | Sarah Leigh commented on gene: CSGALNACT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.79 | CSGALNACT1 |
Sarah Leigh Source Expert Review Green was added to CSGALNACT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v2.23 | CSGALNACT1 | Eleanor Williams Tag for-review tag was added to gene: CSGALNACT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.23 | CSGALNACT1 | Eleanor Williams Classified gene: CSGALNACT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.23 | CSGALNACT1 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with recommendation for green rating following GMS review as there are now 4 cases reported of biallelic variants in this gene in patients with mild skeletal dysplasia thought to result from disturbance of glycosaminoglycan synthesis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.23 | CSGALNACT1 | Eleanor Williams Gene: csgalnact1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.22 | CSGALNACT1 | Eleanor Williams 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 OMIM:618870; skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.21 | CSGALNACT1 | Eleanor Williams Publications for gene: CSGALNACT1 were set to 31705726; 31325655 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.20 | CSGALNACT1 | Eleanor Williams edited their review of gene: CSGALNACT1: Changed publications: 27599773, 31325655, 31705726; Changed phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870, skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.20 | CSGALNACT1 | Eleanor Williams reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | CSGALNACT1 |
Zornitza Stark gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Congenital disorders of glycosylation. Sources: Expert list 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. CSGALNACT1 is predicted to transfer GalNAc to both the tetrasaccharide linker and to growing CS chains in proteoglycans. Sources: Expert list |
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