Primary ovarian insufficiencyGene: ERAL1
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
Perrault syndrome 6 617565
ERAL1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
ERAL1 was created by sleigh