SNORD118

This gene-disease relationship has undergone rapid assessment. Classifications are based on preliminary review of gene-disease validity during analysis of genomic sequencing results.

leukoencephalopathy with calcifications and cystsSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013803

Submitter: PanelApp Australia

leukoencephalopathy with calcifications and cystsSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0013803

Submitter: G2P

Clinical Genomic Database (CGD)

Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome)AR

Manifestation: Cardiovascular; Neurologic

Intervention: General

Rationale: 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

Refs: 27571260

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SNORD118 variants in ClinVar

4 Conditions Cataloged

not providedTotal: 147

Leukoencephalopathy with calcifications and cystsTotal: 41

not specifiedTotal: 2

TMEM107-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	2	0	0	2

Highest pathogenic variant AF is 0.000131491

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP