ERAL1

Era like 12S mitochondrial rRNA chaperone 1
OMIM: 607435, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red ERAL1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Perrault syndrome 6 617565
Red ERAL1 in Differences in sex development


Level 2: Endocrinology
Version 4.21
Latest signed off version: v4.20 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Perrault syndrome 6 617565
Tags
  • founder-effect
Amber ERAL1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Perrault syndrome 6, 617565
    Amber ERAL1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Perrault syndrome 6, 617565
    Red ERAL1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Perrault syndrome 6 617565
    Red ERAL1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Perrault syndrome 6, 617565