Lennox-Gastaut 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 | GABRG2/2566 | gamma-aminobutyric acid type A receptor subunit gamma2 | 5q34 | Chr5, NC_000005.10 (162067465..162155539) |
88075 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | CHD2/1106 | chromodomain helicase DNA binding protein 2 | 15q26.1 | Chr15, NC_000015.10 (92900324..93027996) |
127673 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | DNM1/1759 | dynamin 1 | 9q34.11 | Chr9, NC_000009.12 (128203379..128255244) |
51866 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |