Fetal hydrops
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
4 reviews
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)Created: 11 Apr 2024, 4:07 p.m. | Last Modified: 11 Apr 2024, 4:07 p.m.
Panel Version: 1.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Liona Poon (The Chinese University of Hong Kong)
GLYCOGEN STORAGE DISEASE IV; GSD4
GBE1 gene encodes the glycogen branching enzyme on chromosome 3p12
The neuromuscular presentation of GSD4 is distinguished by age at onset, in particular with relevance to fetal hydrops are: (1) perinatal - presenting as fetal akinesia deformation sequence (FADS) and perinatal death; (2) congenital, with hypotonia, neuronal involvement, and death in early infancy.Created: 15 Dec 2016, 12:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Other
Diana Wellesley (nhs)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen Storage disorder type IV
Publications
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: 2 Green external reviews, and >3 unrelated GBE1 OMIM variants.Created: 19 Dec 2016, 10:27 a.m.
Comment on mode of pathogenicity: Left mode of pathogenicity as 'Other' as suggested by reviewer. No further details given (or in OMIM).Created: 19 Dec 2016, 10:26 a.m.
Comment on list classification: Updated rating from Red to Green based on 2 Green external reviews, and >3 unrelated GBE1 variants listed in OMIM for glycogen storage disease IV, OMIM:232500 (2 of which had fatal perinatal neuromuscular presentation and >3 of which had congenital neuromuscular presentation).Created: 15 Dec 2016, 11:35 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 15 Dec 2016, 11:13 a.m.
GBE1 is included in the gene panel for Fetal hydrops because PMID:10384399 report Fetal hydrops as a manifestation of glycogen storage disease type IV, which is caused by mutations in the GBE1 gene.Created: 10 Oct 2016, 9:14 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Glycogen storage disease IV, OMIM:232500
- Fetal hydrops (in perinatal or congenital neuromuscular forms)
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Cholestasis
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Ketotic hypoglycaemia
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Acute rhabdomyolysis
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Glycogen storage disease
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms); Andersen disease to Glycogen storage disease IV, OMIM:232500; Fetal hydrops (in perinatal or congenital neuromuscular forms)
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.
Set publications
Rebecca Foulger (Genomics England curator)Publications for GBE1 were set to 10449659; 10384399; 27393412; 23137060
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for GBE1 were set to Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms); Andersen disease
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for GBE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for GBE1 were set to 10449659; 10384399; 27393412
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for GBE1 were set to Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms)
Created
Rebecca Foulger (Genomics England curator)GBE1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)GBE1 was added to Fetal hydropspanel. Sources: Other