ATP6AP1

ATPase H+ transporting accessory protein 1
OMIM: 300197
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 47 300972
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 47
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 47, 300972, Hepatopathy, leukopenia, low copper, Predominantly Antibody Deficiencies, Immunodeficiency and hepatopathy with or without neurologic features