NDE1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDE1 (HGNC:17619) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nudE neurodevelopment protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
nudE, FLJ20101, NDE
%HI
35.66(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.85(Read more about gnomAD LOEUF score)
Cytoband
16p13.11
Genomic Coordinates
GRCh37/hg19: chr16:15737239-15820210 NCBI Ensembl UCSC
GRCh38/hg38: chr16:15643382-15726353 NCBI Ensembl UCSC
MANE Select Transcript
NM_017668.3 ENST00000396354.6 (Read more about MANE Select)
Function
Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8037
ClinGen Curation ID:
CCID:007525
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
04/29/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
NDE1 cause autosomal recessive microcephaly [PMID 23704059, 24098143, 21529751]. Despite its autosomal recessive disease pattern associated with extreme microcephaly, NDE1 remains one of the candidate genes for the abnormal phenotypes (epilepsy, microcephaly, midline defects) found in patients with 16p13.11 deletion syndrome (including MYH11).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)