PanelApp (test)
  1. Genes and Genomic Entities
  2. SHANK2:Ensemblv90

SHANK2:Ensemblv90

SH3 and multiple ankyrin repeat domains 2
OMIM: 603290, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SHANK2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

1 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 1.3802

2 reviews 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 1.508

2 reviews 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 1.482

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

Green SHANK2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green SHANK2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Red ISCA-37498-Loss Region in Common deletion and duplication syndromes


Version 0.146

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
Phenotypes
  • 11q13.2q13.4 deletion syndrome