Tay-Sachs Disease(Hexosaminidase A deficiency)
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 | GM2A/2760 | ganglioside GM2 activator | 5q33.1 | Chr5, NC_000005.10 (151253185..151270440) |
17256 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HEXA/3073 | hexosaminidase subunit alpha | 15q23 | Chr15, NC_000015.10 (72340924..72376014, complement) |
35091 nt | 14 | 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 |