Acromesomelic Dysplasia
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone 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 | BMPR1B/658 | bone morphogenetic protein receptor type 1B | 4q22.3 | Chr4, NC_000004.12 (94757955..95158450) |
400496 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GDF5/8200 | growth differentiation factor 5 | 20q11.22 | Chr20, NC_000020.11 (35433347..35454749, complement) |
21403 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | NPR2/4882 | natriuretic peptide receptor 2 | 9p13.3 | Chr9, NC_000009.12 (35791591..35809731) |
18141 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ANK2/287 | ankyrin 2 | 4q26 | Chr4, NC_000004.12 (112705622..113383736) |
678115 nt | 61 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | PRKG2/5593 | protein kinase cGMP-dependent 2 | 4q21.21 | Chr4, NC_000004.12 (81087370..81217836, complement) |
130467 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |