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Nephrotic Syndrome - NEIL1 Associated

MedGen UID:
886719
•Concept ID:
C4054374
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - NEIL1 Associated

Recent clinical studies

Prognosis

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG
Kidney Int 2011 Aug;80(4):389-96. Epub 2011 Jun 22 doi: 10.1038/ki.2011.148. PMID: 21697813

Clinical prediction guides

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG
Kidney Int 2011 Aug;80(4):389-96. Epub 2011 Jun 22 doi: 10.1038/ki.2011.148. PMID: 21697813

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