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Differences of Sex Development

Gene: ERAL1

Amber List (moderate evidence)
ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000132591
EnsemblGeneIds (GRCh37): ENSG00000132591
OMIM: 607435, Gene2Phenotype
ERAL1 is in 5 panels

3 reviews

Chirag Patel (Genetic Health Queensland)

I don't know

3 unrelated females with Perrault syndrome (ovarian dysgenesis and sensorineural deafness) and the same homozygous mutation in the ERAL1 gene (c.707A > T; p.Asn236Ile). Likely founder effect. ERAL1 protein binds to the mitochondrial 12S rRNA and is involved in the assembly of the small mitochondrial ribosomal subunit.

Skin fibroblasts had reduced ERAL1 protein. Levels of the 12S rRNA were reduced in the patients, and were rescued by lentiviral expression of wild type ERAL1otein levels. Mitochondrial respiration was markedly decreased in fibroblasts, confirming disturbed mitochondrial function. Knockdown of the C. elegans ERAL1 homologue E02H1.2 almost completely blocked egg production in worms, mimicking the compromised fertility in PS-affected women.
Created: 5 Dec 2024, 2:03 a.m. | Last Modified: 5 Dec 2024, 2:03 a.m.
Panel Version: 0.297

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, MIM# 617565

Publications

Created: 5 Dec 2024, 2:03 a.m.
Last Modified: 5 Dec 2024, 2:03 a.m.
Panel version: 0.297

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Essentially single family (founder effect), and phenotype is that of amenorrhea and primary ovarian insufficiency.
Created: 15 Jul 2020, 7:22 a.m. | Last Modified: 15 Jul 2020, 7:22 a.m.
Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, MIM# 617565

Publications

Created: 15 Jul 2020, 7:22 a.m.
Last Modified: 15 Jul 2020, 7:22 a.m.
Panel version: 0.96

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 28449065 - 3 unrelated patient with perrault syndrome with the same founder missense (p.Asn236Ile). Symptoms included hearing loss, premature ovarian failure, primary amenorrhea
Supported by functional analysis on patient cells, and transfected yeast reciprocating the phenotype.
Sources: Expert list
Created: 15 Jul 2020, 3:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6 617565

Publications

Created: 15 Jul 2020, 3:06 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Perrault syndrome 6 617565
OMIM
607435
Clinvar variants
Variants in ERAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: eral1 has been classified as Amber List (Moderate Evidence).

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eral1 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eral1 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: ERAL1 was added gene: ERAL1 was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERAL1 were set to PMID: 28449065 Phenotypes for gene: ERAL1 were set to Perrault syndrome 6 617565 Review for gene: ERAL1 was set to AMBER