1. Genes and Genomic Entities
  2. FRRS1L

FRRS1L

ferric chelate reductase 1 like
OMIM: 604574, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber FRRS1L in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic encephalopathy with continuous spike-and-wave during sleep
Green FRRS1L 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Epileptic encephalopathy with continuous spike-and-wave during sleep
    Green FRRS1L 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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile 37, 616981
    Amber FRRS1L 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 Amber
    • Expert Review Amber
    • Literature
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 37 (MIM 616981)
    • Epileptic encephalopathy, early infantile, 37, 616981