Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: SPATA22EnsemblGeneIds (GRCh38): ENSG00000141255
EnsemblGeneIds (GRCh37): ENSG00000141255
OMIM: 617673, Gene2Phenotype
SPATA22 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA.
2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X).
Sources: LiteratureCreated: 15 May 2022, 11:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM #
Publications
- PMID: 35285020
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Premature ovarian insufficiency and nonobstructive azoospermia
- Genetic infertility MONDO:0017143
- OMIM
- 617673
- Clinvar variants
- Variants in SPATA22
- Penetrance
- None
- Publications
-
- PMID: 35285020
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spata22 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM # to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: spata22 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SPATA22 was added gene: SPATA22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA22 were set to PMID: 35285020 Phenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM # Review for gene: SPATA22 was set to AMBER