Carpenter Syndrome(Acrocephalopolysyndactyly type 2) Explore Disorder's Alias
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 | RAB23/51715 | RAB23, member RAS oncogene family | 6p12.1 | Chr6, NC_000006.12 (57186992..57222307, complement) |
35316 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MEGF8/1954 | multiple EGF like domains 8 | 19q13.2 | Chr19, NC_000019.10 (42325635..42378765) |
53131 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |