1. Genes and Genomic Entities
  2. SNX27

SNX27

sorting nexin family member 27
OMIM: 611541, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SNX27 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.195
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Generalized hypotonia
    • Global developmental delay
    • Intellectual disability
    • Seizures
    Tags
    • watchlist
    • gene-checked
    Green SNX27 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Generalized hypotonia
    • Global developmental delay
    • Intellectual disability
    • Seizures
    Tags
    • gene-checked