SPATA22:Ensemblv90

spermatogenesis associated 22
OMIM: 617673, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SPATA22 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Spermatogenic failure 96, MIM#621001
  • Premature ovarian failure 25, MIM#621002

Amber SPATA22 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian insufficiency and nonobstructive azoospermia
  • Genetic infertility MONDO:0017143

Amber SPATA22 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Premature ovarian insufficiency and nonobstructive azoospermia
  • Genetic infertility MONDO:0017143