1. Genes and Genomic Entities
  2. STARD7

STARD7

StAR related lipid transfer domain containing 7
OMIM: 616712, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber STARD7 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Other
    • Literature
    Phenotypes
    • Epilepsy, familial adult myoclonic, 2, OMIM:607876
    • epilepsy, familial adult myoclonic, 2, MONDO:0011930
    Tags
    • STR
    Red STARD7_ATTTC STR in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Epilepsy, familial adult myoclonic, 2, OMIM:607876
    • epilepsy, familial adult myoclonic, 2, MONDO:0011930
    Tags
    • STR
    • NGS Not Validated