KEGG   VARIANT: 23557v1
Entry
23557v1                      Variant                               
Name
SNAPIN mutation
Type
Loss of function
Gene
SNAPIN  SNARE-associated protein Snapin [KO:K20002]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607007
Network
nt06550  Lysosome biogenesis
Disease
H03044  Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Reference
PMID:40930097
  Authors
Yousaf H, de Koning MA, Khan K, Gilmore KL, Hoffer MJV, Kellaris G, Lanone S, Dagouassat M, Ullah F, Adama van Scheltema PN, Heron D, Capri Y, Kuechler A, Schweiger B, Haak MC, Keren B, Tran Mau Them F, Peeters-Scholte CMPCD, Kaiser FJ, Koopmann TT, Mei H, Yalcin B, Depienne C, Vora NL, Santen GWE, Davis EE
  Title
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.
  Journal
Am J Hum Genet 112:2402-2421 (2025)
DOI:10.1016/j.ajhg.2025.08.015
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