Leukoencephalopathy With Vanishing White Matter 1(Vanishing white matter disease)
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An 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 | EIF2B4/8890 | eukaryotic translation initiation factor 2B subunit delta | 2p23.3 | Chr2, NC_000002.12 (27364352..27370338, complement) |
5987 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EIF2B1/1967 | eukaryotic translation initiation factor 2B subunit alpha | 12q24.31 | Chr12, NC_000012.12 (123620406..123633686, complement) |
13281 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities