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 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • 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 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    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 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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