SHANK2

SH3 and multiple ankyrin repeat domains 2
OMIM: 603290, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SHANK2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism susceptibility 17}, MIM#613436
  • Autism spectrum disorder with or without intellectual disability

Green SHANK2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism susceptibility 17}
  • Autism spectrum disorder with or without intellectual disability

Green SHANK2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Autism, susceptibility to, 17, MIM#613436
  • complex neurodevelopmental disorder MONDO:0100038

Red SHANK2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Autism susceptibility 17}, MIM# 613436