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Inborn errors of metabolism

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

1 review

Catherine Snow (Genomics England)

Reviewed on Hearing Loss Panel (https://panelapp.genomicsengland.co.uk/panels/126 version 2.4) one variant identified, reported in OMIM.
Created: 18 Nov 2019, 3:46 p.m. | Last Modified: 18 Nov 2019, 3:46 p.m.
Panel Version: 1.406

Details

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

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: ERAL1 was added gene: ERAL1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERAL1 were set to 28449065 Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565