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Hearing loss

Gene: ERAL1

Red List (low 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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least one variant reported in three distantly related women from a single Dutch village (PMID 28449065). SNP arrays for two patients revealed a large shared homozygous region (personal communication with the authors of PMID 28449065.
Created: 22 Aug 2017, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 6 617565

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Perrault syndrome 6 617565
OMIM
607435
Clinvar variants
Variants in ERAL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ERAL1 was created by sleigh

22 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ERAL1 was added to Congenital hearing impairment (profound/severe)panel. Sources: Literature