Silver-Russell Syndrome(Silver-Russell dwarfism)
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 | CDKN1C/1028 | cyclin dependent kinase inhibitor 1C | 11p15.4 | Chr11, NC_000011.10 (2883218..2885775, complement) |
2558 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | IGF2/3481 | insulin like growth factor 2 | 11p15.5 | Chr11, NC_000011.10 (2129117..2149566, complement) |
20450 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PLAG1/5324 | PLAG1 zinc finger | 8q12.1 | Chr8, NC_000008.11 (56160909..56211273, complement) |
50365 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | HMGA2/8091 | high mobility group AT-hook 2 | 12q14.3 | Chr12, NC_000012.12 (65824460..65966291) |
141832 nt | 8 | 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 |