Inherited white matter disorders
Gene: NDE1EnsemblGeneIds (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
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)NDE1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
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
Added New Source
Ellen McDonagh (Genomics England Curator)NDE1 was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)NDE1 was created by ellenmcdonagh