KEGG   VARIANT: 6091v1
Entry
6091v1                      Variant                                
Name
ROBO1 mutation
Type
Loss of function
Gene
ROBO1  roundabout guidance receptor 1 [KO:K06753]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602430
Network
nt06546  IgSF CAM signaling
Disease
H00776  Congenital motor nystagmus (CMN)
H02036  Combined pituitary hormone deficiency
H02981  Neurooculorenal syndrome
Reference
  Authors
Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ
  Title
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
  Journal
Hum Mol Genet 31:2751-2765 (2022)
DOI:10.1093/hmg/ddac070
Reference
  Authors
Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R
  Title
Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.
  Journal
J Clin Endocrinol Metab 102:2401-2406 (2017)
DOI:10.1210/jc.2016-1095
Reference
  Authors
Munch J, Engesser M, Schonauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tuysuz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM, Smol T, Devisme L, Franquet H, Attie-Bitach T, Wagner T, Bergmann C, Hohn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J
  Title
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
  Journal
Kidney Int 101:1039-1053 (2022)
DOI:10.1016/j.kint.2022.01.028
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