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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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:
- lissencephaly 4 Monarch
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)