Autoinflammatory disorders
Gene: SEC23BEnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. 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. Could not find strong evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.Created: 6 Nov 2023, 4:46 p.m. | Last Modified: 6 Nov 2023, 4:48 p.m.
Panel Version: 1.7
Lauma Freimane (Children's Clinical University Hospital)
Sources: LiteratureCreated: 19 Jun 2023, 1:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dyserythropoietic anemia, congenital, type II, OMIM:224100
- OMIM
- 610512
- Clinvar variants
- Variants in SEC23B
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: sec23b has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: SEC23B was added gene: SEC23B was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 32098966 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II Review for gene: SEC23B was set to GREEN