Predominantly Antibody Deficiency
Gene: ATP6AP1Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 1:47 a.m. | Last Modified: 21 Jul 2020, 1:47 a.m.
Panel Version: 0.39
11 males from 6 unrelated families reported, four different variants.
Sources: Expert listCreated: 5 Apr 2020, 1:45 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper
Publications
Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, MIM# 300972 to Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper
Gene: atp6ap1 has been classified as Green List (High Evidence).
Gene: atp6ap1 has been classified as Green List (High Evidence).
gene: ATP6AP1 was added gene: ATP6AP1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM# 300972 Review for gene: ATP6AP1 was set to GREEN