Fetal hydrops
Gene: GBE1
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen Storage disorder type IV
Publications
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.
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)
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.
Publications for GBE1 were set to 10449659; 10384399; 27393412; 23137060
Phenotypes for GBE1 were set to Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms); Andersen disease
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments
Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GBE1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for GBE1 were set to 10449659; 10384399; 27393412
Phenotypes for GBE1 were set to Glycogen storage disease IV, 232500; GSD4; Fetal hydrops (in perinatal or congenital neuromuscular forms)
GBE1 was created by rfoulger
GBE1 was added to Fetal hydropspanel. Sources: Other