KEGG   VARIANT: 953v1
Entry
953v1                      Variant                                 
Name
ENTPD1 mutation
Type
Loss of function
Gene
ENTPD1  ectonucleoside triphosphate diphosphohydrolase 1 [KO:K01510]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601752
Network
nt06544  Neuroactive ligand signaling
Disease
H00266  Hereditary spastic paraplegia
Reference
  Authors
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR
  Title
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter  Abnormalities, and Spastic Paraplegia.
  Journal
Ann Neurol 92:304-321 (2022)
DOI:10.1002/ana.26381
LinkDB

DBGET integrated database retrieval system