Non-Fanconi anaemia
Gene: ABCB7
XLR pattern of inheritance in males; no reported cases in females.Created: 26 Jan 2016, 2:48 p.m.
Mode of inheritance
Unknown
Phenotypes
Sideroblastic anemia with spinocerebellar ataxia
Publications
Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ABCB7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ABCB7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
ABCB7 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
ABCB7 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ABCB7 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
ABCB7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
ABCB7 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen