1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. ERAL1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Created: 12 Apr 2020, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, MIM# 617565

Publications

Created: 12 Apr 2020, 7:24 a.m.

Panel version: Imported from Mendeliome panel version 0.2171

Details

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

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ERAL1 were changed from to Perrault syndrome 6, MIM# 617565

11 Dec 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ERAL1 were set to

11 Dec 2020, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ERAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: ERAL1 was added gene: ERAL1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: ERAL1 was set to Unknown