FRRS1L

ferric chelate reductase 1 like
OMIM: 604574, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber FRRS1L in Fetal anomalies


Version 1.732
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epileptic encephalopathy with continuous spike-and-wave during sleep

Amber FRRS1L in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Epileptic encephalopathy with continuous spike-and-wave during sleep

    Green FRRS1L in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green FRRS1L in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 37, 616981