SET

SET nuclear proto-oncogene
OMIM: 600960, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SET in Mendeliome


Version 1.4851

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 58, MIM#618106
  • intellectual disability, autosomal dominant 58, MONDO:0020847

Green SET in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 58, MIM#618106
  • intellectual disability, autosomal dominant 58, MONDO:0020847

Red SET in Fetal anomalies


Version 1.576

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, autosomal dominant 58, MIM# 618106

Green SET in Speech apraxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.40

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert List
Phenotypes
  • Intellectual developmental disorder, 58 (MIM#618106).