Intracerebral calcification disorders
Gene: SNORD118EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 9 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Added a tag to explain why no Gene Ensembl ID is available for this entity.Created: 20 Feb 2017, 2:47 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- 614561
- Tags
- OMIM
- 616663
- Clinvar variants
- Variants in SNORD118
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Richard Scott (Genomics England Curator)SNORD118 was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Richard Scott (Genomics England Curator)SNORD118 was created by richardhywel