CHARGE Syndrome(CHD7-related CHARGE syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the 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 | CHD7/55636 | chromodomain helicase DNA binding protein 7 | 8q12.2 | Chr8, NC_000008.11 (60678740..60868028) |
189289 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SEMA3E/9723 | semaphorin 3E | 7q21.11 | Chr7, NC_000007.14 (83363238..83649139, complement) |
285902 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TNFRSF1A/7132 | TNF receptor superfamily member 1A | 12p13.31 | Chr12, NC_000012.12 (6328771..6342076, complement) |
13306 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities