Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Likely inborn error of metabolism v5.3 SEC23B Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: SEC23B.
Likely inborn error of metabolism v5.3 SEC23B Sarah Leigh reviewed gene: SEC23B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 SEC23B Achchuthan Shanmugasundram Mode of inheritance for gene SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.58 SEC23B Arina Puzriakova Tag Q4_23_MOI tag was added to gene: SEC23B.
Likely inborn error of metabolism v4.58 SEC23B Arina Puzriakova 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)
Likely inborn error of metabolism v4.57 SEC23B Arina Puzriakova Added comment: Comment 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.
Likely inborn error of metabolism v4.57 SEC23B Arina Puzriakova Mode of inheritance for gene: SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.56 SEC23B Arina Puzriakova Publications for gene: SEC23B were set to 22208203
Likely inborn error of metabolism v1.47 SEC23B Ivone Leong Source NHS GMS was added to SEC23B.
Source London North GLH was added to SEC23B.
Likely inborn error of metabolism v0.4 SEC23B Ellen McDonagh 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
Likely inborn error of metabolism v0.4 SEC23B Ellen McDonagh 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)