ERAL1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber ERAL1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Perrault syndrome 6 617565

Amber ERAL1 in Mendeliome


Version 2.0

1 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 2.0

1 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 2.0

1 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 1.0

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