SHANK1

SH3 and multiple ankyrin repeat domains 1
OMIM: 604999, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber SHANK1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.186
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AUTISM
Green SHANK1 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
    • AUTISM 209850
    Tags
    • gene-checked
    Green SHANK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    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
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked