KEGG   VARIANT: 6045v1
Entry
6045v1                      Variant                                
Name
RNF2 mutation
Type
Loss of function
Gene
RNF2  ring finger protein 2 [KO:K10695]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608985
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02587  Luo-Schoch-Yamamoto syndrome
Reference
PMID:33864376
  Authors
Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C, Bellen HJ, Wangler MF, Shashi V, Yamamoto S
  Title
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
  Journal
Hum Mol Genet 30:1283-1292 (2021)
DOI:10.1093/hmg/ddab110
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