Deafness_IsolatedAndComplex
Gene: ERAL1
ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000132591
EnsemblGeneIds (GRCh37): ENSG00000132591
OMIM: 607435, Gene2Phenotype
ERAL1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000132591
EnsemblGeneIds (GRCh37): ENSG00000132591
OMIM: 607435, Gene2Phenotype
ERAL1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert listCreated: 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