Rhizomelic Chondrodysplasia Punctata
An Autosomal recessive mode(s) within the Developmental / Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Developmental / Multisystemic 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 | AGPS/8540 | alkylglycerone phosphate synthase | 2q31.2 | Chr2, NC_000002.12 (177392773..177543834) |
151062 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GNPAT/8443 | glyceronephosphate O-acyltransferase | 1q42.2 | Chr1, NC_000001.11 (231241212..231277973) |
36762 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PEX7/5191 | peroxisomal biogenesis factor 7 | 6q23.3 | Chr6, NC_000006.12 (136822592..136913934) |
91343 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | PEX5/5830 | peroxisomal biogenesis factor 5 | 12p13.31 | Chr12, NC_000012.12 (7188653..7218574) |
29922 nt | 21 | 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 |