Non-Fanconi anaemia
Gene: TMPRSS6
Comment when marking as ready: Marked as Ready: 4th May 2017Created: 4 May 2017, noon
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of TMPRSS6 variants causing iron deficiency anemia.Created: 4 May 2017, noon
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by OMIM and G2P.Created: 4 May 2017, 11:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Iron-refractory iron deficiency anaemia
This gene has been classified as Green List (High Evidence).
Phenotypes for TMPRSS6 were set to Iron-refractory iron deficiency anemia, 206200
This gene has been classified as Green List (High Evidence).
Phenotypes for TMPRSS6 were set to Iron-Refractory Iron Deficiency Anemia; Iron-refractory iron deficiency anemia, 206200
Mode of inheritance for TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene TMPRSS6 was changed to BIALLELIC, autosomal or pseudoautosomal
TMPRSS6 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
TMPRSS6 was added to Non-Fanconi anaemiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen