Fetal hydrops
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
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: LiteratureCreated: 11 Apr 2024, 4:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Nonimmune hydrops fetalis
- OMIM
- 610512
- Clinvar variants
- Variants in SEC23B
- Penetrance
- None
- Publications
-
- PMID: 33082562
- Panels with this gene
-
- Autoinflammatory disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Congenital disorders of glycosylation
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
- Inherited non-medullary thyroid cancer
- Fetal hydrops
- Fetal anomalies
History Filter Activity
11 Apr 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Irina Adamena (Children's Clinical University Hospital)gene: SEC23B was added gene: SEC23B was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to PMID: 33082562 Phenotypes for gene: SEC23B were set to Nonimmune hydrops fetalis Review for gene: SEC23B was set to GREEN