Hydrops fetalis
Gene: GALNS

GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 12 panels

1 review

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Well established gene-disease association with MPS Type IV A and there is evidence of links between lysosomal storage disorders and non-immune fetal hydrops (NIHF). A systematic review of monogenic etiologies of nonimmune hydrops (PMID:33082562 lists GALNS as gene with more than one reported NIHF cases.
PMID:23137060 (Whybra et al., 2012) report a first child of non-consanguineous parents presented with hydrops fetalis at 22 weeks of gestation. A diagnosis of MPS IVA was given, and mutation analysis revealed GALNS c.463 G → A in Exon 5 and Intron 13 (IVS13-1 G → A).
Created: 11 Apr 2022, 1:01 a.m. | Last Modified: 11 Apr 2022, 1:01 a.m.

Panel Version: 0.245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Apr 2022, 1:01 a.m.
Last Modified: 11 Apr 2022, 1:01 a.m.
Panel version: 0.245

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mucopolysaccharidosis IVA, MIM# 253000

Tags

treatable

OMIM

612222

Clinvar variants

Variants in GALNS

Penetrance

None

Publications

Panels with this gene