Schwannomatosis(Neurilemmomatosis) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cancer 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 | NF2/4771 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | 22q12.2 | Chr22, NC_000022.11 (29603556..29698600) |
95045 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SMARCB1/6598 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 22q11.23 | Chr22, NC_000022.11 (23786966..23838009) |
51044 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LZTR1/8216 | leucine zipper like post translational regulator 1 | 22q11.21 | Chr22, NC_000022.11 (20982297..20999032) |
16736 nt | 21 | 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 |