KEGG   DISEASE: Atelis syndrome
Entry
H02639                      Disease                                
Name
Atelis syndrome
Description
Atelis syndrome (ATELS) is a neurodevelopmental disease characterized by microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy. It has been reported that pathogenic variants in SLF2 and SMC5 cause this disease. They are components of the RAD18-SLF1/2-SMC5/6 genome stability pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02639  Atelis syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06506  Double-strand break repair
   H02639  Atelis syndrome
Network
nt06506 Double-strand break repair
Gene
(ATELS1) SLF2 [HSA:55719] [KO:K26127]
(ATELS2) SMC5 [HSA:23137] [KO:K22803]
Other DBs
ICD-11: LD2F.Y
ICD-10: Q87.8
OMIM: 620184 620185
Reference
PMID:36333305
  Authors
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GA, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yuksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS
  Title
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
  Journal
Nat Commun 13:6664 (2022)
DOI:10.1038/s41467-022-34349-8
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