Non-Fanconi anaemia
Gene: RPS26
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:43 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of RPS26 variants in Diamond-Blackfan anaemia patients.Created: 4 May 2017, 11:42 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance confirmed by OMIM.Created: 4 May 2017, 11:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anaemia 10
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: Expert list
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPS26 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
RPS26 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen