AKAP4

A-kinase anchoring protein 4
OMIM: 300185, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber AKAP4 in Mendeliome


Version 2.640

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Infertility disorder, MONDO:0005047, AKAP4-related

Amber AKAP4 in Infertility and Recurrent Pregnancy Loss


Version 2.52

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Infertility disorder, MONDO:0005047, AKAP4-related