Fetal hydrops
Gene: GLB1EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 panels
2 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 3:56 p.m. | Last Modified: 11 Apr 2024, 3:56 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). 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.pdfCreated: 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
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
- DDG2P
- Skeletal dysplasia
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Fetal anomalies
- Lysosomal storage 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.
Added New Source
Rebecca Foulger (Genomics England curator)GLB1 was added to Fetal hydropspanel. Sources: Expert Review Green
Created
Rebecca Foulger (Genomics England curator)GLB1 was created by rfoulger