Malformations of cortical development
Gene: NDE1

NDE1 (nudE neurodevelopment protein 1)
EnsemblGeneIds (GRCh38): ENSG00000072864
EnsemblGeneIds (GRCh37): ENSG00000072864
OMIM: 609449, Gene2Phenotype
NDE1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P for Lissencephaly 4 (with microcephaly) 614019. At least nine variants reported.
Created: 1 Nov 2016, 1:15 p.m.

Created: 1 Nov 2016, 1:15 p.m.

Panel version: 0.15

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Oct 2016, 7:08 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Lissencephaly 4 (with microcephaly) 614019
?Microhydranencephaly 605013

OMIM

609449

Clinvar variants

Variants in NDE1

Penetrance

Complete

Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4