Non-Fanconi anaemia
Gene: COX4I2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia and calvarial hyperostosis
Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
COX4I2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
COX4I2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
COX4I2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
COX4I2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene COX4I2 was changed to BIALLELIC, autosomal or pseudoautosomal
COX4I2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
COX4I2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen