Fetal hydrops

Gene: GBE1

Green List (high evidence)

GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 22 panels

3 reviews

Liona Poon (The Chinese University of Hong Kong)

Green List (high evidence)

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)

Green List (high evidence)

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.

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.

20 Dec 2016, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GBE1 were set to 10449659; 10384399; 27393412; 23137060

20 Dec 2016, Gel status: 4

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

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments

19 Dec 2016, Gel status: 4

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for GBE1 was changed to Other - please provide details in the comments

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GBE1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GBE1 were set to 10449659; 10384399; 27393412

15 Dec 2016, Gel status: 0

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)

10 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GBE1 was added to Fetal hydropspanel. Sources: Other

10 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GBE1 was created by rfoulger