Non-Fanconi anaemia
Gene: RPL5
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:32 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of RPL5 variants in Diamon-Blackfan anemia patients.Created: 4 May 2017, 11:32 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.Created: 4 May 2017, 11:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anaemia 6
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: Expert list
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL5 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
RPL5 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen