X-linked Sideroblastic Anemia 1(X-linked pyridoxine-refractory sideroblastic anemia)
An X-linked recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An X-linked 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 | ALAS2/212 | 5'-aminolevulinate synthase 2 | Xp11.21 | ChrX, NC_000023.11 (55009055..55030977, complement) |
21923 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SLC25A38/54977 | solute carrier family 25 member 38 | 3p22.1 | Chr3, NC_000003.12 (39383370..39397351) |
13982 nt | 9 | 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