RNU4ATAC

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

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green RNU4ATAC in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

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

Green RNU4ATAC in Limb disorders


Version 1.61

Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I 210710
    • Roifman syndrome 616651

    Green RNU4ATAC in Inherited bleeding disorders

    Level 3: Haemostasis disorders
    Level 2: Haematological and immunological disorders
    Version 1.156

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE Study Tier 1 Gene
    Phenotypes
    • Platelet disorder
    • Roifman Syndrome with thrombocytopenia and Primary immunodeficiency
    Tags
    • locus-type-rna-small-nuclear

    Red RNU4ATAC in Primary immunodeficiency


    Version 2.0

    review Not set
    Sources
    • IUIS Classification February 2018
    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

    Green RNU4ATAC in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    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
    • Microcephalic osteodysplastic primordial dwarfism, type I, 210710
    • MPD
    • microcephalic primordial dwarfism
    Tags
    • locus-type-rna-small-nuclear

    Green RNU4ATAC in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.204

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Roifman syndrome 616651
    • Microcephalic osteodysplastic primordial dwarfism, type I 210710
    Tags
    • locus-type-rna-small-nuclear

    Amber RNU4ATAC in Bleeding and platelet disorders


    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome

    Red RNU4ATAC in Cytopenia - NOT Fanconi anaemia


    Version 1.0

    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, 616651
    • Microcephalic osteodysplastic primordial dwarfism, type I, 210710

    Green RNU4ATAC in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I

    Green RNU4ATAC in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710

    Red RNU4ATAC in Growth failure in early childhood


    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • MOPD I
    Tags
    • locus-type-rna-small-nuclear

    Amber RNU4ATAC in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.883
  • 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 210710

    Amber RNU4ATAC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Tags
    • locus-type-rna-small-nuclear