Dejerine-Sottas Disease(Charcot-Marie-Tooth disease type 3) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neuromuscular 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 | PRX/57716 | periaxin | 19q13.2 | Chr19, NC_000019.10 (40393764..40414789, complement) |
21026 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MPZ/4359 | myelin protein zero | 1q23.3 | Chr1, NC_000001.11 (161303600..161309968, complement) |
6369 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PMP22/5376 | peripheral myelin protein 22 | 17p12 | Chr17, NC_000017.11 (15229779..15265326, complement) |
35548 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | EGR2/1959 | early growth response 2 | 10q21.3 | Chr10, NC_000010.11 (62811996..62819167, complement) |
7172 nt | 5 | 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 | ||||||||
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Clinical Symptoms & Disabilities