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  2. Bone Marrow Failure
  3. SEC23B
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Bone Marrow Failure

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Over 20 families reported.
Created: 14 Sep 2020, 11:37 a.m. | Last Modified: 14 Sep 2020, 11:37 a.m.
Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyserythropoietic anemia, congenital, type II , MIM#224100

Publications

Created: 14 Sep 2020, 11:37 a.m.
Last Modified: 14 Sep 2020, 11:37 a.m.
Panel version: 0.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

14 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec23b has been classified as Green List (High Evidence).

14 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100

14 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC23B were set to

14 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC23B was added gene: SEC23B was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEC23B was set to Unknown