Rett Syndrome(Autism, dementia, ataxia, and loss of purposeful hand use) Explore Disorder's Alias
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An X-linked recessive 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 | MECP2/4204 | methyl-CpG binding protein 2 | Xq28 | ChrX, NC_000023.11 (154021573..154097717, complement) |
76145 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FOXG1/2290 | forkhead box G1 | 14q12 | Chr14, NC_000014.9 (28766787..28770277) |
3491 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CDKL5/6792 | cyclin dependent kinase like 5 | Xp22.13 | ChrX, NC_000023.11 (18425608..18653629) |
228022 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | GABBR2/9568 | gamma-aminobutyric acid type B receptor subunit 2 | 9q22.33 | Chr9, NC_000009.12 (98288109..98708935, complement) |
420827 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | RHOBTB2/23221 | Rho related BTB domain containing 2 | 8p21.3 | Chr8, NC_000008.11 (22950813..23020199) |
69387 nt | 16 | 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 |