Inherited white matter disorders
Gene: NDE1Comment on list classification: Should be on Malformations of cortical development panel.Created: 6 Oct 2016, 9:50 a.m.
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
NDE1 was added to Inherited white matter disorderspanel. Source: Radboud University Medical Center, Nijmegen
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
NDE1 was added to Inherited white matter disorderspanel. Sources: UKGTN
NDE1 was created by ellenmcdonagh