Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: SPATA22

Amber List (moderate evidence)

SPATA22 (spermatogenesis associated 22)
EnsemblGeneIds (GRCh38): ENSG00000141255
EnsemblGeneIds (GRCh37): ENSG00000141255
OMIM: 617673, Gene2Phenotype
SPATA22 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

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: Literature
Created: 15 May 2022, 11:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM #

Publications

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
Panels with this gene

History Filter Activity

24 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: spata22 has been classified as Amber List (Moderate Evidence).

24 May 2022, Gel status: 2

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

15 May 2022, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: spata22 has been classified as Amber List (Moderate Evidence).

15 May 2022, Gel status: 1

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