KEGG   VARIANT: 10735v1
Entry
10735v1                      Variant                               
Name
STAG2 mutation
Gene
STAG2  STAG2 cohesin complex component [KO:K06671]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
STAG2 mutations
OmimVar: 300826
Network
nt06512  Chromosome cohesion and segregation
Disease
H00267  Holoprosencephaly
H02582  Mullegama-Klein-Martinez syndrome
Reference
  Authors
Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA
  Title
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
  Journal
Am J Med Genet A 173:1319-1327 (2017)
DOI:10.1002/ajmg.a.38207
Reference
  Authors
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M
  Title
Cohesin complex-associated holoprosencephaly.
  Journal
Brain 142:2631-2643 (2019)
DOI:10.1093/brain/awz210
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