Fetal anomalies
Gene: CSGALNACT1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

PMID 31325655: exome sequencing revealed a homozygous 1_bp-deletion in CSGALNACT1, both parents heterozygous carriers, prenatal ultrasound examination had revealed a mildly shortened femur bone. Overall, the phenotype that is caused by biallelic CSGALNACT1 mutations seems to be much milder than that of Desbuquois dysplasia. PMID 27599773: heterozygous for a large intragenic deletion and a p.Pro384Arg missense mutation, shortness of long bones and a at facial prole were noted in the fetus on a routine ultra-sound scan by 28 weeks of gestation. PMID 31705726: skeletal dysplasia suggested prenatally in P2 by short fetal femurs, compound_heterozygous for c.1294G>T (p.Asp432Tyr) and an intragenic deletion of 84,966 bp that removes exon 4.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM#618870

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870

OMIM

616615

Clinvar variants

Variants in CSGALNACT1

Penetrance

None

Publications

Panels with this gene