RNU4-2

RNA, U4 small nuclear 2, the group of Small nuclear RNAs

Basic information

Region (hg38): 12:120291763-120291903

Previous symbols: [ "RNU4C", "RNU4-1B", "RNU4B1" ]

Links

ENSG00000202538 ∙ NCBI:26834 ∙ ∙ HGNC:10193 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (Strong), mode of inheritance: AD
• syndromic complex neurodevelopmental disorder (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
ReNU syndrome	AD	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	Craniofacial; Dermatologic; Musculoskeletal; Neurologic	38821540; 38859706

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNU4-2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNU4-2 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)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in RNU4-2

This is a list of pathogenic ClinVar variants found in the RNU4-2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-120291835-G-A		Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	Likely pathogenic (Oct 01, 2024)
12-120291839-T-C		Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	Pathogenic (Oct 09, 2024)
12-120291839-T-TA		RNU4-2-associated neurodevelopmental disorder • Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language • RNU4-2-related condition	Pathogenic (Nov 12, 2024)
12-120291860-T-TA		Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	Uncertain significance (Nov 27, 2024)
12-120291874-T-A		Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language	Uncertain significance (Nov 27, 2024)
12-120291878-C-T			Uncertain significance (Aug 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP