Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

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, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6, MIM# 617565

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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

12 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERAL1 was added gene: ERAL1 was added to Deafness. Sources: 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, MIM# 617565 Review for gene: ERAL1 was set to AMBER