Asphyxiating Thoracic Dystrophy 3(Polydactyly with neonatal chondrodystrophy type 1)
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 | DYNC2H1/79659 | dynein cytoplasmic 2 heavy chain 1 | 11q22.3 | Chr11, NC_000011.10 (103109426..103479863) |
370438 nt | 90 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NEK1/4750 | NIMA related kinase 1 | 4q33 | Chr4, NC_000004.12 (169392809..169612583, complement) |
219775 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DYNLT2B/255758 | dynein light chain Tctex-type 2B | 3q29 | Chr3, NC_000003.12 (196291219..196318240, complement) |
27022 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | BBS10/79738 | Bardet-Biedl syndrome 10 | 12q21.2 | Chr12, NC_000012.12 (76344474..76348415, complement) |
3942 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | TMEM256/254863 | transmembrane protein 256 | 17p13.1 | Chr17, NC_000017.11 (7402975..7404097, complement) |
1123 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | FAM98C/147965 | family with sequence similarity 98 member C | 19q13.2 | Chr19, NC_000019.10 (38403093..38409088) |
5996 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | DYNC2I1/55112 | dynein 2 intermediate chain 1 | 7q36.3 | Chr7, NC_000007.14 (158839245..158958698) |
119454 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | DYNC2I2/89891 | dynein 2 intermediate chain 2 | 9q34.11 | Chr9, NC_000009.12 (128633653..128684460, complement) |
50808 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | KIF24/347240 | kinesin family member 24 | 9p13.3 | Chr9, NC_000009.12 (34252380..34333671, complement) |
81292 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||