1. Genes and Genomic Entities
  2. SHANK3

SHANK3

SH3 and multiple ankyrin repeat domains 3
OMIM: 606230, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red SHANK3 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review Not set
Sources
  • Expert Review Red
Green SHANK3 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Green
  • SFARI
Phenotypes
  • Phelan-McDermid syndrome, Rett syndrome-like phenotype
  • DD/NDD, ASD, ID, EPS
Green SHANK3 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Phelan-McDermid syndrome, OMIM:606232
  • Phelan-McDermid syndrome, MONDO:0011652
Green SHANK3 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PHELAN-MCDERMID SYNDROME 606232
    Green SHANK3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950
    • PHELAN-MCDERMID SYNDROME
    Green SHANK3 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Phelan-McDermid syndrome 606232
    Green SHANK3 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Phelan-McDermid syndrome, 606232