SHANK3

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

6 panels

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

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.76

review Not set
Sources
  • Expert Review Red
Green SHANK3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.32
Latest signed off version: v7.0 (6 May 2026)

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 7.8
Latest signed off version: v7.0 (6 May 2026)

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
    Amber SHANK3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.40
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Phelan-McDermid syndrome, OMIM:606232
    • Phelan-McDermid syndrome, MONDO:0011652
    Tags
    • Q3_26_promote_green
    Green SHANK3 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.60
    Latest signed off version: v10.0 (6 May 2026)

    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 2: Cardiology
    Version 5.2
    Latest signed off version: v5.0 (6 May 2026)

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