SNORD118

small nucleolar RNA, C/D box 118, the group of Small nucleolar RNAs, C/D box

Basic information

Links

ENSG00000200463

∙ NCBI:727676 ∙ OMIM:616663 ∙ HGNC:32952 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

leukoencephalopathy with calcifications and cysts (Strong), mode of inheritance: AR
leukoencephalopathy with calcifications and cysts (Moderate), mode of inheritance: AR
leukoencephalopathy with calcifications and cysts (Strong), mode of inheritance: AR
leukoencephalopathy with calcifications and cysts (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome)	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Cardiovascular; Neurologic	27571260

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SNORD118 gene.

not provided (147 variants)
Leukoencephalopathy with calcifications and cysts (41 variants)
not specified (2 variants)
TMEM107-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNORD118 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	19 clinvar	3 clinvar	106 clinvar	21 clinvar	18 clinvar	167
Total	19	3	108	21	18

Highest pathogenic variant AF is 0.000131

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP