KEGG   VARIANT: 2744v1
Entry
2744v1                      Variant                                
Name
GLS mutation
Type
Loss of function
Gene
GLS  glutaminase kidney isoform, mitochondrial isoform 1 precursor [KO:K01425]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138280
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H02846  Global developmental delay, progressive ataxia, and elevated glutamine
Reference
  Authors
Rumping L, Buttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R
  Title
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
  Journal
JAMA Neurol 76:342-350 (2019)
DOI:10.1001/jamaneurol.2018.2941
Reference
  Authors
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drogemoller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM
  Title
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
  Journal
N Engl J Med 380:1433-1441 (2019)
DOI:10.1056/NEJMoa1806627
LinkDB

DBGET integrated database retrieval system