Primary ovarian insufficiency
Gene: ERAL1
ERAL1 (Era like 12S mitochondrial rRNA chaperone 1)
EnsemblGeneIds (GRCh38): ENSG00000132591
EnsemblGeneIds (GRCh37): ENSG00000132591
OMIM: 607435, Gene2Phenotype
ERAL1 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000132591
EnsemblGeneIds (GRCh37): ENSG00000132591
OMIM: 607435, Gene2Phenotype
ERAL1 is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
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, 10:38 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
Added New Source
Sarah Leigh (Genomics England Curator)ERAL1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
22 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ERAL1 was created by sleigh