Non-Fanconi anaemia
Gene: RPL35A
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:30 a.m.
Comment on list classification: Kept rating as Green: Expert review green plus at least 3 unrelated cases of RPL35A variants in Diamon-Blackfan anemia patients.Created: 4 May 2017, 11:30 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance confirmed by OMIM.Created: 4 May 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anaemia 5
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: Expert list
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene RPL35A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RPL35A was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
RPL35A was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen