COVID-19 research
Gene: RNU4ATAC
IUIS geneCreated: 1 May 2020, 12:45 p.m. | Last Modified: 1 May 2020, 12:45 p.m.
Panel Version: 0.171
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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; Combined immunodeficiencies with associated or syndromic features; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature to Roifman syndrome, OMIM:616651; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
Source Expert Review Green was added to RNU4ATAC. Added phenotypes 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; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature for gene: RNU4ATAC Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: RNU4ATAC was added gene: RNU4ATAC was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 32086639; 32048120 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; Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature