Likely inborn error of metabolism - targeted testing not possible
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, 12:35 p.m. | Last Modified: 7 Nov 2023, 12:35 p.m.
Panel Version: 4.57
Tag Q4_23_MOI tag was added to gene: SEC23B.
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)
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
Source NHS GMS was added to SEC23B. Source London North GLH was added to SEC23B.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) for gene: SEC23B Publications for gene SEC23B were changed from 27604308 to 22208203
gene: SEC23B was added gene: SEC23B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SEC23B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SEC23B were set to 27604308 Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)