Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNU4ATACEnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The following PubMed IDs were added to gene RNU4ATAC (OMIM gene MIM#601428): 21474760;26522830. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
Louise Daugherty (Genomics England Curator)
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): RNU4ATAC .PanelApp HGNC gene symbol check: RNU4ATAC . IUIS Disease: MOPD1 deficiency . IUIS Inheritance: AR .T cells: Normal, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Immuno-osseous DysplasiasCreated: 6 Jul 2018, 12:35 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Phenotypes
-
- Roifman syndrome, OMIM:616651
- Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
- Tags
- OMIM
- 601428
- Clinvar variants
- Variants in RNU4ATAC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Retinal disorders
- DDG2P
- Monogenic short stature
- COVID-19 research
- Neonatal diabetes
- IUGR and IGF abnormalities
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNU4ATAC were changed from Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly; Combined immunodeficiencies with associated or syndromic features to Roifman syndrome, OMIM:616651; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
Added New Source, Set publications
Eleanor Williams (Genomics England Curator)Source Other was added to RNU4ATAC. Publications for gene RNU4ATAC were updated from 32048120; 32086639 to 26522830; 32086639; 21474760; 32048120
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Source IUIS Classification December 2019 was added to RNU4ATAC. Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC Publications for gene RNU4ATAC were updated from to 32048120; 32086639
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene RNU4ATAC were set to Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, Combined immunodeficiencies with associated or syndromic features
Added New Source
Louise Daugherty (Genomics England Curator)RNU4ATAC was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)RNU4ATAC was created by Louise Daugherty