Megalencephalic Leukoencephalopathy With Subcortical Cysts(Van der Knaap syndrome) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative 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 | MLC1/23209 | modulator of VRAC current 1 | 22q13.33 | Chr22, NC_000022.11 (50059391..50085875, complement) |
26485 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HEPACAM/220296 | hepatic and glial cell adhesion molecule | 11q24.2 | Chr11, NC_000011.10 (124919205..124936047, complement) |
16843 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | AQP4/361 | aquaporin 4 | 18q11.2 | Chr18, NC_000018.10 (26852038..26865803, complement) |
13766 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | GPRC5B/51704 | G protein-coupled receptor class C group 5 member B | 16p12.3 | Chr16, NC_000016.10 (19856691..19885634, complement) |
28944 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |