Fetal hydrops
Gene: GALNSEnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
2 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 3:54 p.m. | Last Modified: 11 Apr 2024, 3:54 p.m.
Panel Version: 1.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
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
-
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Skeletal dysplasia
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mucopolysaccharidosis type IVA
- Likely inborn error of metabolism
History Filter Activity
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.
Added New Source
Rebecca Foulger (Genomics England curator)GALNS was added to Fetal hydropspanel. Sources: Expert Review Green
Created
Rebecca Foulger (Genomics England curator)GALNS was created by rfoulger