Non-Fanconi anaemia
Gene: SEC23B
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:54 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of SEC23B variants causing Dyserythropoietic anemia. Confirmed DD-G2P gene for Dyserythropoietic anemia.Created: 4 May 2017, 11:54 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM and G2P.Created: 4 May 2017, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital dyserythropoietic anaemia type II
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SEC23B were set to Congenital dyserythropoietic anemia type II; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type II, 224100
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal
SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen