Severe microcephaly

Gene: NDE1

Green List (high evidence)

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

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Expert list
12 Jan 2017, 10:28 a.m.
Mutations identified in at least five families. Recognised on G2P
12 Jan 2017, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 4 (with microcephaly) 614019

Publications

Rebecca Foulger (Genomics England curator)

Mode of inheritance sourced from OMIM.
13 Dec 2016, 10:52 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Lissencephaly 4 (with microcephaly), 614019
  • ?Microhydranencephaly, 605013
OMIM
609449
Clinvar variants
Variants in NDE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

12 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for NDE1 were set to 21529752

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

13 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

NDE1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene NDE1 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NDE1 was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NDE1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list