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Cytopenias and congenital anaemias

Gene: SEC23B

Green List (high evidence)

SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 12 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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anemia (CDA)

Publications

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

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
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Anemia, dyserythropoieticcongenital, type II, 224100
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
OMIM
610512
Clinvar variants
Variants in SEC23B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SEC23B were set to Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia; Anemia, dyserythropoieticcongenital, type II, 224100; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II

28 Feb 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SEC23B were set to 19621418;19561605

28 Feb 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SEC23B were set to 19621418

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SEC23B was created by LouiseD

17 Feb 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SEC23B was added to Cytopaenias and congenital anaemiaspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN