Microcephalic Primordial Dwarfism and Slender bone dysplasias
Gene: RNU4ATAC
RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Roifman syndrome 616651
- Microcephalic osteodysplastic primordial dwarfism, type I 210710
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- 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
2 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: RNU4ATAC was added gene: RNU4ATAC was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710