This Panel is marked as Internal
Anaemias and red cell disorders
Gene: SEC23B
SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels
1 review
BRIDGE consortium (NIHRBR-RD)
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
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Congenital dyserythropoietic anemia type II
- Congenital Dyserythropoietic Anemia
- Anemia,dyserythropoieticcongenital,typeII,224100
- ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
- OMIM
- 610512
- Clinvar variants
- Variants in SEC23B
- Penetrance
- Complete
- 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
22 Jul 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SEC23B was added to Anaemias and red cell disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SEC23B was created by ellenmcdonagh