Congenital disorders of glycosylation
Gene: STT3AThe mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
Comment on mode of inheritance: Should be updated from biallelic to both mono- and biallelic at the next GMS panel update as per review by Zornitza Stark. Both MOIs are also now recognised in OMIM.Created: 18 Jul 2022, 2:44 p.m. | Last Modified: 18 Jul 2022, 2:44 p.m.
Panel Version: 2.91
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).
At least 7 individuals from 3 unrelated families reported in literature, with 2 different homozygous variants in STT3A, as well as an additional case indicated by expert reviewer.Created: 15 Oct 2020, 3:22 p.m. | Last Modified: 15 Oct 2020, 3:22 p.m.
Panel Version: 2.16
New MOI
PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).Created: 4 Dec 2021, 8:01 a.m. | Last Modified: 4 Dec 2021, 8:01 a.m.
Panel Version: 2.78
Bi-allelic variants: Three families reported to date.Created: 22 Jul 2020, 9:55 a.m. | Last Modified: 4 Dec 2021, 8:01 a.m.
Panel Version: 2.78
Mode of inheritance
BOTH monoallelic and 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
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:11 a.m. | Last Modified: 3 Mar 2022, 11:17 a.m.
Panel Version: 2.80
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One published variant reported and expert reviewer reported an additional variant.Created: 19 Dec 2016, 2:55 p.m.
only one patient described in the literature, but I do know of a second patient being treated in the UK.Created: 12 Dec 2016, 2:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q3_22_MOI 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
Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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 Q3_22_MOI tag was added to gene: STT3A.
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)
Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, 615596
Publications for gene: STT3A were set to 23842455
Gene: stt3a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: STT3A.
Promoted to V1 19th December 2016
This gene has been classified as Amber List (Moderate Evidence).
Publications for STT3A were set to 23842455
This gene has been classified as Amber List (Moderate Evidence).
STT3A was added to Congenital disorders of glycosylationpanel. Source: UKGTN
STT3A was created by sleigh
STT3A was added to Congenital disorders of glycosylationpanel. Sources: Other