Congenital Amegakaryocytic Thrombocytopenia
An Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An 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 | MPL/4352 | MPL proto-oncogene, thrombopoietin receptor | 1p34.2 | Chr1, NC_000001.11 (43337818..43354466) |
16649 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities