KEGG   VARIANT: 1781v1
Entry
1781v1                      Variant                                
Name
DYNC1I2 mutation
Type
Loss of function
Gene
DYNC1I2  dynein cytoplasmic 1 intermediate chain 2 [KO:K10415]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603331
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H02857  Neurodevelopmental disorder with microcephaly and structural brain anomalies
Reference
PMID:31079899
  Authors
Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE
  Title
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
  Journal
Am J Hum Genet 104:1073-1087 (2019)
DOI:10.1016/j.ajhg.2019.04.002
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