GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: SNORD118EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: SNORD118; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614561; PMID(s): 27571260; Comment: PanelApp panel name indicated if gene already present in Panelapp: Red in White matter disorders and cerebral calcification - narrow panelCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.Created: 27 Feb 2019, 2:22 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- 614561
- OMIM
- 616663
- Clinvar variants
- Variants in SNORD118
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to SNORD118. Mode of inheritance for gene SNORD118 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 614561 for gene: SNORD118 Publications for gene SNORD118 were changed from to 27571260 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SNORD118.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SNORD118 was added gene: SNORD118 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: SNORD118 was set to