SNIP1

Smad nuclear interacting protein 1
OMIM: 608241, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SNIP1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Tags
  • founder

Amber SNIP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
    Tags
    • founder

    Red SNIP1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
    Tags
    • founder

    Amber SNIP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501