ERAL1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red ERAL1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Perrault syndrome 6 617565

Amber ERAL1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Perrault syndrome 6, MIM# 617565

Amber ERAL1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Perrault syndrome 6, MIM# 617565

    Amber ERAL1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Perrault syndrome 6, MIM# 617565

    Amber ERAL1 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health QLD
    • Expert list
    Phenotypes
    • Perrault syndrome 6, MIM# 617565