Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNU4ATACThe 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
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.
Source Other was added to RNU4ATAC. Publications for gene RNU4ATAC were updated from 32048120; 32086639 to 26522830; 32086639; 21474760; 32048120
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
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.
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
RNU4ATAC was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
RNU4ATAC was created by Louise Daugherty