1. Genes and Genomic Entities
  2. RNU4ATAC

RNU4ATAC

RNA, U4atac small nuclear (U12-dependent splicing)
OMIM: 601428, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green RNU4ATAC in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MOPD I
Tags
  • locus-type-rna-small-nuclear
Green RNU4ATAC in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • 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
  • locus-type-rna-small-nuclear
Amber RNU4ATAC in Neonatal diabetes


Level 2: Endocrinology
Version 5.17
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • RNU4ATAC spectrum disorder, MONDO:0100558
  • neonatal diabetes
  • developmental delay
  • microcephaly
  • skeletal abnormalities
  • hypothyroidism
  • humoral immune defect
  • hepatic disorder
  • growth failure
  • failure to thrive
  • atopic dermatitis
Tags
  • locus-type-rna-small-nuclear
Green RNU4ATAC in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Lowry-Wood syndrome, OMIM:226960
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.182

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Roifman syndrome, OMIM:616651
    • Roifman Syndrome with thrombocytopenia and Primary immunodeficiency
    Tags
    • locus-type-rna-small-nuclear
    Red RNU4ATAC in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		review 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
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Other
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    • Lowry-Wood syndrome, OMIM:226960
    • Microcephalic primordial dwarfism
    Tags
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lowry-Wood syndrome, OMIM:226960
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Amber RNU4ATAC in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Red RNU4ATAC in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert review Red
    • NHS GMS
    • North West GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    Tags
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
    Tags
    • locus-type-rna-small-nuclear
    Amber RNU4ATAC in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    Tags
    • locus-type-rna-small-nuclear
    Amber RNU4ATAC in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Lowry-Wood syndrome, OMIM:226960
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Green RNU4ATAC in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Expert Review
    Phenotypes
    • Lowry-Wood syndrome, OMIM:226960
    • Roifman syndrome, OMIM:616651
    Tags
    • locus-type-rna-small-nuclear
    Red RNU4ATAC in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Lowry-Wood syndrome, OMIM:226960
    • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
    Tags
    • locus-type-rna-small-nuclear