Bartter Disease Type 5(Bartter syndrome, type 5, antenatal, transient)
An X-linked dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Nephrological 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 | MAGED2/10916 | MAGE family member D2 | Xp11.21 | ChrX, NC_000023.11 (54807745..54816015) |
8271 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 |