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  3. CSGALNACT1
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Multiple joint dislocations and laxity

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Further two families reported, bringing total to 4.
Created: 22 Apr 2020, 4:32 a.m. | Last Modified: 22 Apr 2020, 4:32 a.m.
Panel Version: 0.2579

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation; skeletal dysplasia

Publications

Created: 22 Apr 2020, 4:32 a.m.
Last Modified: 22 Apr 2020, 4:32 a.m.
Panel version: Imported from Mendeliome panel version 0.2579

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Two unrelated families and functional studies
Sources: Expert Review, Literature
Created: 12 Feb 2020, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age

Created: 12 Feb 2020, 6:23 a.m.

Panel version: Imported from Mendeliome panel version 0.1344

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • 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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CSGALNACT1 were changed from CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615 to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to CSGALNACT1. Added phenotypes CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615 for gene: CSGALNACT1

12 Feb 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: CSGALNACT1 was added gene: CSGALNACT1 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,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 CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1 616615