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  3. SEC23B
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Congenital anaemias

Gene: SEC23B

Green List (high evidence)
SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Anemia,dyserythropoieticcongenital,typeII,224100
OMIM
610512
Clinvar variants
Variants in SEC23B
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Congenital anaemiaspanel. Source: UKGTN

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SEC23B was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SEC23B was added to Congenital anaemiaspanel. Source: Emory Genetics Laboratory

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

SEC23B was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SEC23B was added to Congenital anaemiaspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SEC23B was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SEC23B was added to Congenital anaemiaspanel. Sources: Emory Genetics Laboratory