Iron metabolism disorders - NOT common HFE mutations
Gene: SEC23B

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

4 reviews

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

Created: 28 May 2019, 1:11 p.m.

Panel version: 0.37

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

SEC23B gene have been identified in people with congenital dyserythropoietic anemia (CDA) type II.
These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs.

More appropriate for the rare anaemia panel
Created: 11 Mar 2019, 11:51 a.m.

Created: 11 Mar 2019, 11:51 a.m.

Panel version: 0.25

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. It is Green on the rare anaemias panel
Created: 22 Jul 2019, 3:10 p.m. | Last Modified: 22 Jul 2019, 3:10 p.m.

Panel Version: 0.45

Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red
Created: 28 May 2019, 2:08 p.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SEC23B; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 224100 Dyserythropoietic anemia, congenital, type II; PMID(s): none submitted
Created: 13 Feb 2019, 12:39 p.m.

Created: 13 Feb 2019, 12:39 p.m.

Panel version: 0.39

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 13 Feb 2019, 12:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
224100 Dyserythropoietic anemia, congenital, type II

Created: 13 Feb 2019, 12:36 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Wessex and West Midlands GLH
NHS GMS
Yorkshire and North East GLH

Phenotypes

Dyserythropoietic anemia, congenital, type II OMIM:224100
congenital dyserythropoietic anemia type 2 MONDO:0009134

OMIM

610512

Clinvar variants

Variants in SEC23B

Penetrance

None

Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SEC23B were changed from 224100 Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II OMIM:224100; congenital dyserythropoietic anemia type 2 MONDO:0009134

22 Jul 2019, Gel status: 1