Gaucher Disease(Glucocerebrosidosis)
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage 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 | GBA1/2629 | glucosylceramidase beta 1 | 1q22 | Chr1, NC_000001.11 (155234452..155244627, complement) |
10176 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PSAP/5660 | prosaposin | 10q22.1 | Chr10, NC_000010.11 (71816298..71851251, complement) |
34954 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MSH6/2956 | mutS homolog 6 | 2p16.3 | Chr2, NC_000002.12 (47783145..47810101) |
26957 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |