Likely inborn error of metabolism - targeted testing not possible
Gene: STT3A
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' - congenital disorder of glycosylation due to STT3A has been identified in at least 3 families with biallelic variants (PMIDs: 23842455; 30701557; 28424003) and 9 families with monoallelic variants (PMID: 34653363)Created: 19 Jul 2022, 9:58 a.m. | Last Modified: 19 Jul 2022, 9:58 a.m.
Panel Version: 2.262
Three families reported to date.Created: 31 Jan 2021, 9:25 a.m. | Last Modified: 31 Jan 2021, 9:25 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_22_rating was removed from gene: STT3A.
Source NHS GMS was added to STT3A. Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: STT3A.
Publications for gene: STT3A were set to 23842455
Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596
Sarah Leigh: Associated with relevant pheno
gene: STT3A was added gene: STT3A was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to ?Congenital disorder of glycosylation, type Iw 615596