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DDG2P

Gene: RNU12

Red List (low evidence)
RNU12 (RNA, U12 small nuclear)
EnsemblGeneIds (GRCh38): ENSG00000276027
EnsemblGeneIds (GRCh37): ENSG00000270022
RNU12 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RNU12-related CDAGS syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27863452, 34085356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03197.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease RNU12-related CDAGS syndrome is limited. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMIDs: 27863452;34085356).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0011287; RNU12-related CDAGS syndrome; OMIM:603116.0

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • RNU12-related CDAGS syndrome
Tags
locus-type-rna-small-nuclear gene-checked
Clinvar variants
Variants in RNU12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RNU12 was changed from Other to None

2 Oct 2024, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RNU12.

29 Jul 2024, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RNU12 was added gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 34085356 Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome Mode of pathogenicity for gene: RNU12 was set to Other