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  3. RNU4ATAC
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Skeletal dysplasia

Gene: RNU4ATAC

Green List (high evidence)
RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lowry-Wood syndrome (LWS) is characterized by multiple epiphyseal dysplasia and microcephaly. Patients exhibit intrauterine growth retardation and short stature, as well as developmental delay and intellectual disability. Retinal degeneration has been reported in some patients.

Four unrelated families reported.

Note features between the three RNU4ATAC-related conditions overlap and they may not represent distinct disorders.
Created: 20 Aug 2021, 3:39 a.m. | Last Modified: 20 Aug 2021, 3:39 a.m.
Panel Version: 0.8900
Comment when marking as ready: Note gene is not protein coding.
Created: 14 Apr 2020, 6:04 a.m. | Last Modified: 14 Apr 2020, 6:04 a.m.
Panel Version: 0.2278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lowry-Wood syndrome, MIM# 226960

Publications

Created: 14 Apr 2020, 6:04 a.m.
Last Modified: 14 Apr 2020, 6:04 a.m.
Panel version: Imported from Mendeliome panel version 0.8900

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23794361; total of 40 patients with MOPD1
PMID: 26522830; 4 unrelated families with Roifman Syndrome
PMID: 30455926; total of 13 patients with Roifman Syndrome
Created: 14 Apr 2020, 5:20 a.m. | Last Modified: 14 Apr 2020, 5:20 a.m.
Panel Version: 0.2275

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)

Publications

Created: 14 Apr 2020, 5:20 a.m.
Last Modified: 14 Apr 2020, 5:20 a.m.
Panel version: Imported from Mendeliome panel version 0.2275

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
  • Roifman syndrome 616651
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651