Monogenic short stature
Gene: RNU4ATAC

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.

Created: 30 May 2019, 9:49 a.m.

Copied from panel: Growth failure in early childhood v3.82

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Lowry-Wood syndrome, OMIM:226960
Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710

Tags

locus-type-rna-small-nuclear

OMIM

601428

Clinvar variants

Variants in RNU4ATAC

Penetrance

None

Publications

21474760

Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Monogenic short stature. Sources: Expert Review Red locus-type-rna-small-nuclear tags were added to gene: RNU4ATAC. Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 21474760 Phenotypes for gene: RNU4ATAC were set to MOPD I

Monogenic short stature Gene: RNU4ATAC