ClinGen Dosage Sensitivity Curation Page

NDE1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype 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 score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity