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  3. SEC23B
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Non-Fanconi anaemia

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 13 panels

3 reviews

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

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.
Created: 4 May 2017, 11:52 a.m.

Panel version: 0.294

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital dyserythropoietic anaemia type II

Created: 26 Jan 2016, 2:28 p.m.

Panel version: 0.228

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type II, 224100
OMIM
610512
Clinvar variants
Variants in SEC23B
Penetrance
Complete
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

4 May 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

4 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SEC23B were set to Congenital dyserythropoietic anemia type II; Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type II, 224100

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen