1. Genes and Genomic Entities
  2. SHANK3

SHANK3

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

5 panels

Panel Reviews Mode of inheritance Details
5 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 6.181
Latest signed off version: v6.0 (30 Apr 2025)

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 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

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