Cytopenias and congenital anaemias
Gene: SEC23B

SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Created: 28 Feb 2017, 2:35 p.m.

Panel version: 0.230

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

19621418

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Dyserythropoietic anemia, congenital, type II, OMIM:224100

OMIM

610512

Clinvar variants

Variants in SEC23B

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

7 Nov 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SEC23B were changed from Congenital dyserythropoietic anemia type II; Congenital Dyserythropoietic Anemia; Anemia, dyserythropoieticcongenital, type II, 224100; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4