Congenital disorders of glycosylation
Gene: SEC23BComment on mode of inheritance: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is). Biallelic phenotype remains relevant to this panel (PMID: 35163229).
On this basis, the MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS panel update.Created: 7 Nov 2023, 12:33 p.m. | Last Modified: 7 Nov 2023, 12:33 p.m.
Panel Version: 4.9
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q15437-1Created: 9 Jan 2020, 2:50 p.m. | Last Modified: 9 Jan 2020, 2:50 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in 18 families.Created: 19 Dec 2016, 11:42 a.m.
Comment on phenotypes: Also associated with Cowden syndrome 7 616858 (autosomal dominant)Created: 19 Dec 2016, 11:39 a.m.
congenital dyserythropoietic anemia type IICreated: 13 Dec 2016, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) to Dyserythropoietic anemia, congenital, type II, OMIM:224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Tag Q4_23_MOI tag was added to gene: SEC23B.
Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 22208203
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)
Publications for SEC23B were set to 22208203
SEC23B was added to Congenital disorders of glycosylationpanel. Source: UKGTN
SEC23B was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
SEC23B was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SEC23B was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
SEC23B was created by sleigh
SEC23B was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory