1. Genes and Genomic Entities
  2. ARV1

ARV1

ARV1 homolog, fatty acid homeostasis modulator
OMIM: 611647, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ARV1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 38, OMIM:617020
Green ARV1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.167
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, 38 617020
    Green ARV1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 38