Cornelia De Lange Syndrome 1(NIPBL-Related Cornelia de Lange 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 | NIPBL/25836 | NIPBL cohesin loading factor | 5p13.2 | Chr5, NC_000005.10 (36876769..37066413) |
189645 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TAF6/6878 | TATA-box binding protein associated factor 6 | 7q22.1 | Chr7, NC_000007.14 (100107070..100127171, complement) |
20102 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KMT2A/4297 | lysine methyltransferase 2A | 11q23.3 | Chr11, NC_000011.10 (118436492..118526832) |
90341 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | HDAC8/55869 | histone deacetylase 8 | Xq13.1 | ChrX, NC_000023.11 (72329516..72572843, complement) |
243328 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SMC3/9126 | structural maintenance of chromosomes 3 | 10q25.2 | Chr10, NC_000010.11 (110567695..110606048) |
38354 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | RAD21/5885 | RAD21 cohesin complex component | 8q24.11 | Chr8, NC_000008.11 (116845934..116874776, complement) |
28843 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||