1. Genes and Genomic Entities
  2. SSR3

SSR3

signal sequence receptor subunit 3
OMIM: 606213, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SSR3 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation
    Amber SSR3 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Congenital disorder of glycosylation