Glycogen Storage Disease, Type IV(GBE1 deficiency)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | GBE1/2632 | 1,4-alpha-glucan branching enzyme 1 | 3p12.2 | Chr3, NC_000003.12 (81489703..81761645, complement) |
271943 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RBCK1/10616 | RANBP2-type and C3HC4-type zinc finger containing 1 | 20p13 | Chr20, NC_000020.11 (408299..432139) |
23841 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |