KEGG   VARIANT: 25929v1
Entry
25929v1                      Variant                               
Name
GEMIN5 mutation
Type
Loss of function
Gene
GEMIN5  gem nuclear organelle associated protein 5 [KO:K13133]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607005
Network
nt06547  Spliceosome
Disease
H02987  Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Reference
  Authors
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schoneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bonnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB
  Title
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
  Journal
Nat Commun 12:2558 (2021)
DOI:10.1038/s41467-021-22627-w
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