Hereditary Spherocytosis(Minkowski-Chauffard disease) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Blood 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 | ANK1/286 | ankyrin 1 | 8p11.21 | Chr8, NC_000008.11 (41653225..41896741, complement) |
243517 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SPTB/6710 | spectrin beta, erythrocytic | 14q23.3 | Chr14, NC_000014.9 (64746283..64879907, complement) |
133625 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SPTA1/6708 | spectrin alpha, erythrocytic 1 | 1q23.1 | Chr1, NC_000001.11 (158610704..158686715, complement) |
76012 nt | 52 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | EPB42/2038 | erythrocyte membrane protein band 4.2 | 15q15.2 | Chr15, NC_000015.10 (43197227..43225737, complement) |
28511 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SLC4A1/6521 | solute carrier family 4 member 1 (Diego blood group) | 17q21.31 | Chr17, NC_000017.11 (44248390..44268135, complement) |
19746 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | GPI/2821 | glucose-6-phosphate isomerase | 19q13.11 | Chr19, NC_000019.10 (34359718..34402413) |
42696 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |