1. Genes and Genomic Entities
  2. SNIP1

SNIP1

Smad nuclear interacting protein 1
OMIM: 608241, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SNIP1 in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501
    Green SNIP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    Phenotypes
    • Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501
    • psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787
    Tags
    • founder-effect
    Green SNIP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501
    • psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787
    Tags
    • founder-effect