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  2. Possible mitochondrial disorder - nuclear genes
  3. ERAL1
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Possible mitochondrial disorder - nuclear genes

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 6 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One homozygous mutation found in 3 unrelated Dutch individuals from same village with ovarian dysgenesis and sensorineural deafness. Gene product believed to be associated with assembly of the small mito ribosomal subunit.
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, 617565

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 4:01 p.m.
Created: 29 Mar 2019, 4:01 p.m.

Panel version: 0.110

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, 617565

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

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

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ERAL1 was added gene: ERAL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565