Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: LHX8
Heterozygous LOF variants identified in 6 families with premature ovarian failure due to oocyte maturation arrest.Created: 1 Sep 2022, 6:26 a.m. | Last Modified: 1 Sep 2022, 6:26 a.m.
Panel Version: 0.304
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inherited premature ovarian failure, MONDO:0019852, LHX8-related
Publications
Only supporting mouse model. Same variant reported in 2 cases is too common
PMID: 34095689 - 1 POI case with missense p.Ala325Val, which has 533 hets and 22 homozygotes in gnomAD v2.1, too common for Mendelian disease
PMID: 29329412 - Lhx8 knockout mouse model demonstrates premature depletion of oocytes
PMID: 27603904 - 1 POI case also with p.Ala325Val
Sources: LiteratureCreated: 29 Nov 2021, 12:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904
Gene: lhx8 has been classified as Green List (High Evidence).
Gene: lhx8 has been classified as Red List (Low Evidence).
gene: LHX8 was added gene: LHX8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904 Phenotypes for gene: LHX8 were set to Primary ovarian insufficiency Review for gene: LHX8 was set to RED