Genomics England
GMS Panels
Panels
Genes and Entities

KATNB1

katanin regulatory subunit B1
OMIM: 602703
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534