KATNB1

katanin regulatory subunit B1
OMIM: 602703, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green KATNB1 in Malformations of cortical development


Level 2: Neurology
Version 8.8
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
    • Other
    Phenotypes
    • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
    Green KATNB1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
    Green KATNB1 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
    • KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
    Amber KATNB1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
    Tags
    • watchlist
    Amber KATNB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534