ATP11C

ATPase phospholipid transporting 11C
OMIM: 300516, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ATP11C in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • ?Hemolytic anemia, congenital, X-linked, OMIM:301015