Fetal hydrops

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 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). GLB1 is also on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf
Created: 21 Dec 2016, 11:37 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GM1-gangliosidosis, type I, 230500
  • GM1-gangliosidosis, type II, 230600
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVB
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
OMIM
611458
Clinvar variants
Variants in GLB1
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)

GLB1 was added to Fetal hydropspanel. Sources: Expert Review Green

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GLB1 was created by rfoulger