Inherited white matter disorders

Gene: NDE1

Red List (low evidence)

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

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Should be on Malformations of cortical development panel.
Created: 6 Oct 2016, 9:50 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed DD gene for LISSENCEPHALY 4, more than 3 families reported in OMIM and found in 3/4 original sources of gene panels. Is not in the minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 or on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory. Should be green if lissencephaly 4 is considered a white matter disorder.
Created: 25 Aug 2016, 3:05 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
  • Lissencephaly, Recessive
  • Lissencephaly 4 (with microcephaly), 614019
OMIM
609449
Clinvar variants
Variants in NDE1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NDE1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

NDE1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene NDE1 was set to BIALLELIC, autosomal or pseudoautosomal

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDE1 was added to Inherited white matter disorderspanel. Sources: UKGTN

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NDE1 was created by ellenmcdonagh