ATP11C

ATPase phospholipid transporting 11C
OMIM: 300516, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ATP11C in Mendeliome


Version 1.4516

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hemolytic anemia, congenital, X-linked MIM#301015

Amber ATP11C in Red cell disorders


Level 2: Haematological disorders
Version 1.46

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Hemolytic anemia, congenital, X-linked MIM#301015