Intellectual disability - microarray and sequencing
Gene: STT3A
This gene should be changed to both monoallelic and biallelic inheritance following publication of a new paper showing missense variants in the active site cause an AD formCreated: 3 Aug 2022, 11:43 a.m. | Last Modified: 3 Aug 2022, 11:43 a.m.
Panel Version: 3.1648
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
short stature; skeletal defects; intellectual disability; speech delay
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.
Panel Version: 3.1510
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic'. Congenital disorder of glycosylation due to monoallelic variants in STT3A has been identified in at least 16 patients from 9 families (PMID: 34653363). Phenotypes included mild-moderate ID/DD in 10/16 subjects.Created: 19 Jul 2022, 10:03 a.m. | Last Modified: 19 Jul 2022, 10:03 a.m.
Panel Version: 3.1632
Comment on list classification: There is enough evidence to support a gene-disease association, and so STT3A should be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag).
ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)Created: 15 Oct 2020, 3:14 p.m. | Last Modified: 15 Oct 2020, 3:14 p.m.
Panel Version: 3.451
Removed 'watchlist' tag as now the number of unrelated cases reaches threshold for a Green rating on this panelCreated: 15 Oct 2020, 3:01 p.m. | Last Modified: 15 Oct 2020, 3:01 p.m.
Panel Version: 3.450
Three unrelated families reported now, DD/ID is part of the phenotype.Created: 29 Feb 2020, 3:26 a.m. | Last Modified: 29 Feb 2020, 3:26 a.m.
Panel Version: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iw; OMIM #615596
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW
Publications
PMID:28424003 (Ghosh et al., 2017) describe 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in TUSC3. Common phenotypic features in all symptomatic individuals include developmental delay, intellectual disability, with absent speech and seizures.Created: 25 Sep 2017, 9:39 a.m.
Tag Q3_22_MOI was removed from gene: STT3A. Tag Q3_22_NHS_review was removed from gene: STT3A.
Source NHS GMS was added to STT3A. Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_NHS_review tag was added to gene: STT3A.
Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: STT3A.
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
Publications for gene: STT3A were set to 23842455; 28424003; 30701557
Tag for-review was removed from gene: STT3A.
Source Expert Review Green was added to STT3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: stt3a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw, 615596; developmental delay; intellectual disability to Congenital disorder of glycosylation, type Iw, 615596
Publications for gene: STT3A were set to 28424003; 23842455
Tag watchlist was removed from gene: STT3A. Tag for-review tag was added to gene: STT3A.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Expert Review Amber was added to STT3A. Panel: Intellectual disability Publications for gene STT3A was set to ['28424003', ' 23842455']
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
STT3A was created by ellenmcdonagh
STT3A was added to Intellectual disabilitypanel. Sources: Expert Review Red