Kleefstra Syndrome
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 | EHMT1/79813 | euchromatic histone lysine methyltransferase 1 | 9q34.3 | Chr9, NC_000009.12 (137619005..137836127) |
217123 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KMT2C/58508 | lysine methyltransferase 2C | 7q36.1 | Chr7, NC_000007.14 (152134925..152436003, complement) |
301079 nt | 59 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PAEP/5047 | progestagen associated endometrial protein | 9q34.3 | Chr9, NC_000009.12 (135561756..135566955) |
5200 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |