RTTN

rotatin
OMIM: 610436, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red RTTN in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders

Green RTTN in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.171

Component of the following Super Panels:

  • Cerebral malformations v3.1
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures 614833

    Green RTTN 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
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Other
    • Expert list
    Phenotypes
    • MCPH
    • primary microcephaly
    • Microcephaly, short stature, and polymicrogyria with seizures
    • Microcephaly,short stature,and polymicrogyria with seizures,614833
    • Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833

    Green RTTN in Fetal anomalies


    Version 0.346

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BILATERAL DIFFUSE POLYMICROGYRIA

    Green RTTN 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
    • BILATERAL DIFFUSE POLYMICROGYRIA 614833

    Green RTTN 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 Green
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures 614833

    Green RTTN 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Expert Review Red
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, 614833
    • Intellectual disability