ClinGen Dosage Sensitivity Curation Page

MOV10

  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
24463507 Fromer M et al. (2014) Large whole exome sequencing study of de novo mutations in schizophrenia to date, based upon genomic (blood) DNA from 623 schizophrenia trios. Confirmed de novo frameshift in female (patient ID 2274-1) with schizophrenia (see supplemental). Variant nomenclature not reported.
25363768 Iossifov I et al. (2014) Large whole exome sequencing from more than 2,500 simplex families each having a child with an autistic spectrum disorder (ASD). Confirmed de novo frameshift in male and female sibling (family ID 12473) with ASD (see supplemental). Variant nomenclature not reported, report also includes a de novo missense.
27824329 Wang T et al. (2016) Large sequencing study using single-molecule molecular inversion probes (smMIPs) in 189 risk genes in 1,542 Chinese probands with ASD. Maternally inherited frameshift (ID SKLMG_M08563) (c.3012_*3dup) in proband with ASD, and a maternally inherited missense (ID SKLMG_M21013) (c.2501G>A, p.Arg834Gln) in proband with ASD.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity