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Fetal anomalies

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 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Two unrelated cases published in PMID:20381388.
Created: 29 Apr 2019, 12:28 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Created: 11 Dec 2018, 9:05 a.m.

Publications

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene SEC23B were changed from to 20381388

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SEC23B was added gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II