1. Panels
  2. Congenital Disorders of Glycosylation
  3. CSGALNACT1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Disorders of Glycosylation

Gene: CSGALNACT1

Green List (high evidence)
CSGALNACT1 (chondroitin sulfate N-acetylgalactosaminyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000147408
EnsemblGeneIds (GRCh37): ENSG00000147408
OMIM: 616615, Gene2Phenotype
CSGALNACT1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Sources: Literature
Created: 22 Apr 2020, 4:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870

Publications

Created: 22 Apr 2020, 4:31 a.m.

Panel version: 1.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation
  • Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870
OMIM
616615
Clinvar variants
Variants in CSGALNACT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csgalnact1 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csgalnact1 has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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