RAI1

retinoic acid induced 1
OMIM: 607642, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red RAI1 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Green RAI1 in Fetal anomalies


Version 1.3
Signed off v.1.2 on 17 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SMITH-MAGENIS SYNDROME

Green RAI1 in DDG2P


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMITH-MAGENIS SYNDROME 182290

    Red RAI1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.1
    Signed off v.2.0 on 10 Dec 2019

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • SMITH-MAGENIS SYNDROME
    • SMS

    Green RAI1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Immunodeficiency 9, 612782
    • SMITH-MAGENIS SYNDROME (SMS)