Genomics England
GMS Panels
Panels
Genes and Entities

NDE1

nudE neurodevelopment protein 1
OMIM: 609449
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 4 614019
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 4 (with microcephaly), 614019
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LISSENCEPHALY 4
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 4 (with microcephaly), 614019, LISSENCEPHALY 4 (WITH MICROCEPHALY)
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 4 (with microcephaly) 614019, ?Microhydranencephaly 605013
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Lissencephaly 4 (with microcephaly), 614019, ?Microhydranencephaly, 605013