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Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.202 RNU4ATAC Arina Puzriakova 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 RNU4ATAC Eleanor Williams Source Other was added to RNU4ATAC.
Publications for gene RNU4ATAC were updated from 32048120; 32086639 to 26522830; 32086639; 21474760; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 RNU4ATAC Eleanor Williams reviewed gene: RNU4ATAC: Rating: ; Mode of pathogenicity: ; Publications: 21474760, 26522830; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 RNU4ATAC Louise Daugherty 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
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty commented on gene: RNU4ATAC
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC
Primary immunodeficiency or monogenic inflammatory bowel disease RNU4ATAC Louise Daugherty Added gene to panel