Congenital disorders of glycosylation
Gene: SEC23BEnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is). Biallelic phenotype remains relevant to this panel (PMID: 35163229).
On this basis, the MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel update.Created: 7 Nov 2023, 12:33 p.m. | Last Modified: 7 Nov 2023, 12:33 p.m.
Panel Version: 4.9
Rebecca Foulger (Genomics England curator)
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q15437-1Created: 9 Jan 2020, 2:50 p.m. | Last Modified: 9 Jan 2020, 2:50 p.m.
Panel Version: 2.0
Sarah Leigh (Genomics England Curator)
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 4 May 2024, 11:48 a.m. | Last Modified: 4 May 2024, 11:48 a.m.
Panel Version: 5.3
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in 18 families.Created: 19 Dec 2016, 11:42 a.m.
Comment on phenotypes: Also associated with Cowden syndrome 7 616858 (autosomal dominant)Created: 19 Dec 2016, 11:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Daniel Ungar (University of York, Department of Biology)
congenital dyserythropoietic anemia type IICreated: 13 Dec 2016, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Dyserythropoietic anemia, congenital, type II, OMIM:224100
- COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
- OMIM
- 610512
- Clinvar variants
- Variants in SEC23B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Autoinflammatory disorders
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_MOI was removed from gene: SEC23B.
Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to SEC23B. Mode of inheritance for gene SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) to Dyserythropoietic anemia, congenital, type II, OMIM:224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_MOI tag was added to gene: SEC23B.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SEC23B were set to 22208203
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Set publications
Sarah Leigh (Genomics England Curator)Publications for SEC23B were set to 22208203
Added New Source
Sarah Leigh (Genomics England Curator)SEC23B was added to Congenital disorders of glycosylationpanel. Source: UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)SEC23B was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)SEC23B was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)SEC23B was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Sarah Leigh (Genomics England Curator)SEC23B was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SEC23B was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory