Kabuki Syndrome Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental 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 | KMT2D/8085 | lysine methyltransferase 2D | 12q13.12 | Chr12, NC_000012.12 (49018978..49060794, complement) |
41817 nt | 55 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KDM6A/7403 | lysine demethylase 6A | Xp11.3 | ChrX, NC_000023.11 (44873188..45112779) |
239592 nt | 33 | 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 | KMT2B/9757 | lysine methyltransferase 2B | 19q13.12 | Chr19, NC_000019.10 (35718003..35738878) |
20876 nt | 38 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |