Fetal hydrops

Gene: GALNS

Green List (high evidence)

GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Added to panel because of link between some lysosomal storage disorders and non-immune fetal hydrops (NIHF). 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: 21 Dec 2016, 11:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVA
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
  • Morquio disease type A
OMIM
612222
Clinvar variants
Variants in GALNS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

GALNS was added to Fetal hydropspanel. Sources: Expert Review Green

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GALNS was created by rfoulger