Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 727676
MIM: 616663
HGNC: 32952
Ensembl: ENSG00000200463
Variants:
dbSNP: 727676
ClinVar: 727676
TCGA: ENSG00000200463
COSMIC: SNORD118
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35389826 | 2022 | U8 variants on the brain: a small nucleolar RNA and human disease. | 11 |
| 35389826 | 2022 | U8 variants on the brain: a small nucleolar RNA and human disease. | 11 |
| 33029936 | 2021 | Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. | 13 |
| 33029936 | 2021 | Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. | 13 |
| 31521395 | 2020 | Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. | 6 |
| 32361877 | 2020 | Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. | 5 |
| 31521395 | 2020 | Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. | 6 |
| 32361877 | 2020 | Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. | 5 |
| 27793341 | 2017 | Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118. | 1 |
| 28177126 | 2017 | Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. | 12 |
| 27793341 | 2017 | Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118. | 1 |
| 28177126 | 2017 | Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. | 12 |
| 27571260 | 2016 | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. | 59 |
| 27571260 | 2016 | Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. | 59 |
Citation
Dessen P
SNORD118 (small nucleolar RNA, C/D box 118)
Atlas Genet Cytogenet Oncol Haematol. 2017-09-01
Online version: http://atlasgeneticsoncology.org/gene/80021/case-report-explorer/
