Growth failure
Gene: RNU4ATACEnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease associations with over 40 families reported with MOPD, more than 10 with Roifman and 4 with Lowry-Wood. All three conditions have short stature as a prominent feature. Note phenotypic overlap, may not be distinct disorders but rather represent a spectrum.Created: 20 Aug 2021, 3:42 a.m. | Last Modified: 20 Aug 2021, 3:42 a.m.
Panel Version: 0.251
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710)
- Roifman syndrome (MIM# 616651)
- Lowry-Wood syndrome, MIM# 226960
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Skeletal dysplasia
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Microcephaly
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu4atac has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RNU4ATAC were changed from MOPD I to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RNU4ATAC were set to 21474760
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnu4atac has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RNU4ATAC was added gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red 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