Cytopenias and congenital anaemiasGene: SEC23B
Comment on publications: evidence in more than 3 families that variants in this gene cause the disorder Dyserythropoietic anemia, congenital, type II
Created: 28 Feb 2017, 2:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital dyserythropoietic anemia (CDA)
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
Phenotypes for SEC23B were set to Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia; Anemia, dyserythropoieticcongenital, type II, 224100; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Publications for SEC23B were set to 19621418;19561605
Publications for SEC23B were set to 19621418
SEC23B was created by LouiseD
SEC23B was added to Cytopaenias and congenital anaemiaspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN