Hydrops fetalis
Gene: SEC23BEnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three cases reported of severe presentation including hydrops.
Sources: Expert listCreated: 13 Aug 2020, 8:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyserythropoietic anemia, congenital, type II , MIM#224100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Dyserythropoietic anemia, congenital, type II , MIM#224100
- OMIM
- 610512
- Clinvar variants
- Variants in SEC23B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec23b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec23b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SEC23B was added gene: SEC23B was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 29300242; 20381388 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100 Review for gene: SEC23B was set to GREEN