1. Genes and Genomic Entities
  2. RTTN

RTTN

rotatin
OMIM: 610436, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red RTTN in Cerebral vascular malformations


Level 2: Neurology
Version 5.3
Latest signed off version: v5.2 (12 Aug 2026)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Green RTTN in Malformations of cortical development


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders

    		•  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 2: Neurology
    Version 9.18
    Latest signed off version: v9.13 (12 Aug 2026)

    		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


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BILATERAL DIFFUSE POLYMICROGYRIA
    Green RTTN in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BILATERAL DIFFUSE POLYMICROGYRIA 614833
    Green RTTN in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    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 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 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, 614833
    • Intellectual disability