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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. LHX8
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: LHX8

Green List (high evidence)
LHX8 (LIM homeobox 8)
EnsemblGeneIds (GRCh38): ENSG00000162624
EnsemblGeneIds (GRCh37): ENSG00000162624
OMIM: 604425, Gene2Phenotype
LHX8 is in 2 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 1 Sep 2022, 6:26 a.m.
Last Modified: 1 Sep 2022, 6:26 a.m.
Panel version: 0.304

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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: Literature
Created: 29 Nov 2021, 12:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 29 Nov 2021, 12:51 a.m.

Panel version: 0.223

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary ovarian insufficiency
OMIM
604425
Clinvar variants
Variants in LHX8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lhx8 has been classified as Green List (High Evidence).

29 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lhx8 has been classified as Red List (Low Evidence).

29 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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