NDE1 Chromosome 16
NudE neurodevelopment protein 1
Upload your DNA to see your personal genotypes for variants in NDE1.
What This Gene Does
This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
16p13.11
Ensembl
ENSG00000072864
Associated Conditions (5)
Lissencephaly 4
NDE1-related microhydranencephaly
Intellectual disability
Inborn genetic diseases
NDE1-related disorder
Key Variants
RS1123418
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
RS146284370
Conflicting classifications of pathogenicity
Lissencephaly 4, NDE1-related microhydranencephaly, Intellectual disability
Health Risk
RS147174812
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
RS147283674
Conflicting classifications of pathogenicity
Lissencephaly 4, Inborn genetic diseases, Lissencephaly 4
Health Risk
RS149046258
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
RS150492774
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
RS201783071
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
RS373842185
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376548563
Conflicting classifications of pathogenicity
Lissencephaly 4, NDE1-related disorder, Lissencephaly 4
Health Risk
RS538373943
Conflicting classifications of pathogenicity
Health Risk
RS570994490
Conflicting classifications of pathogenicity
NDE1-related disorder, NDE1-related disorder
Health Risk
RS572790932
Conflicting classifications of pathogenicity
Lissencephaly 4, Lissencephaly 4
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1123418 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS146284370 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, NDE1-related microhydranencephaly, Intellectual disability |
| RS147174812 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS147283674 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Inborn genetic diseases, Lissencephaly 4 |
| RS149046258 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS150492774 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS201783071 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS373842185 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376548563 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, NDE1-related disorder, Lissencephaly 4 |
| RS538373943 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS570994490 | Health Risk | Conflicting classifications of pathogenicity | NDE1-related disorder, NDE1-related disorder |
| RS572790932 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS760012847 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 4, Lissencephaly 4 |
| RS794727491 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS794727785 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1456594953 | Health Risk | Pathogenic | Lissencephaly 4, Lissencephaly 4 |
| RS2151436194 | Health Risk | Pathogenic | NDE1-related microhydranencephaly, Lissencephaly 4, NDE1-related microhydranencephaly |
| RS398123577 | Health Risk | Pathogenic | — |
| RS749768828 | Health Risk | Pathogenic | Lissencephaly 4, NDE1-related disorder, Lissencephaly 4 |
| RS756206942 | Health Risk | Pathogenic | Lissencephaly 4, NDE1-related microhydranencephaly, Lissencephaly 4 |
| RS757604577 | Health Risk | Pathogenic | Lissencephaly 4, Lissencephaly 4 |
| RS576928842 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 4, Lissencephaly 4 |