RNU4ATAC

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green RNU4ATAC in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green RNU4ATAC in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710)
  • Roifman syndrome (MIM# 616651)
  • Lowry-Wood syndrome, MIM# 226960

Green RNU4ATAC in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710

Green RNU4ATAC in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710)
    • Roifman syndrome (MIM# 616651)
    • Lowry-Wood syndrome, MIM# 226960

    Green RNU4ATAC in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RNU4ATAC in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.66

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lowry-Wood syndrome MIM#226960
    • Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710
    • Roifman syndrome MIM#616651

    Green RNU4ATAC in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710
    • Roifman syndrome, MIM#616651

    Green RNU4ATAC in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I 210710
    • Roifman syndrome 616651

    Green RNU4ATAC in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Roifman syndrome, MIM# 616651
    • Lowry-Wood syndrome, MIM# 226960

    Green RNU4ATAC in Microcephalic Primordial Dwarfism and Slender bone dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.29

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Roifman syndrome 616651
    • Microcephalic osteodysplastic primordial dwarfism, type I 210710

    Green RNU4ATAC in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)

    Green RNU4ATAC in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710)
    • Roifman syndrome (MIM# 616651)
    • Lowry-Wood syndrome, MIM# 226960

    Green RNU4ATAC in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710
    • Roifman syndrome, MIM#616651

    Green RNU4ATAC in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)