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Intellectual disability syndromic and non-syndromic

Gene: RNU2-2P

Green List (high evidence)

RNU2-2P (RNA, U2 small nuclear 2, pseudogene)
EnsemblGeneIds (GRCh38): ENSG00000222328
EnsemblGeneIds (GRCh37): ENSG00000222328
RNU2-2P is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 individuals reported with de novo, recurrent variants in this gene at nucleotide positions 4 and 35. The disorder is characterized by intellectual disability, neurodevelopmental delay, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype.
Sources: Literature
Created: 11 Sep 2024, 7:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related

Publications

  • https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related
Clinvar variants
Variants in RNU2-2P
Penetrance
None
Publications
  • https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1
Panels with this gene

History Filter Activity

11 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu2-2p has been classified as Green List (High Evidence).

11 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu2-2p has been classified as Green List (High Evidence).

11 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNU2-2P was added gene: RNU2-2P was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNU2-2P were set to https://www.medrxiv.org/content/10.1101/2024.09.03.24312863v1 Phenotypes for gene: RNU2-2P were set to Neurodevelopmental disorder, MONDO:0700092, RNU2-2P-related Review for gene: RNU2-2P was set to GREEN