Fetal hydrops
Gene: GNPTABEnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 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). GNPTAB is also on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdfCreated: 21 Dec 2016, 11:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mucolipidosis, Type II
- Mucolipidosis, Type III Alpha/Beta
- Mucolipidosis II alpha/beta
- Mucolipidosis III alpha/beta
- I-cell disease
- OMIM
- 607840
- Clinvar variants
- Variants in GNPTAB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Osteogenesis imperfecta
- Fetal hydrops
- Retinal disorders
- Likely inborn error of metabolism
- Mucolipidosis II and III Alpha or Beta
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
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.
Created
Rebecca Foulger (Genomics England curator)GNPTAB was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)GNPTAB was added to Fetal hydropspanel. Sources: Expert Review Green