XK:Ensemblv115

X-linked Kx blood group antigen, Kell and VPS13A binding protein
OMIM: 314850, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green XK in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Expert Review Green Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Green XK in Incidentalome Version 1.0	2 reviews	Unknown	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green XK in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 1.0	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 list Expert Review Green Phenotypes McLeod syndrome with or without chronic granulomatous disease MIM#300842
Green XK in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Phenotypes McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Green XK in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London South GLH Expert Review Green Phenotypes McLeod syndrome with or without chronic granulomatous disease MIM# 300842 absence of red blood cell Kx antigen weak expression of Kell red blood cell antigens neuroacanthocytosis (peripheral and central nervous systems) cardiovascular abnormalities myopathy