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Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: STT3A.
Congenital disorders of glycosylation v3.4 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Congenital disorders of glycosylation v3.3 STT3A Achchuthan Shanmugasundram 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
Congenital disorders of glycosylation v2.91 STT3A Arina Puzriakova Added comment: 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.
Congenital disorders of glycosylation v2.91 STT3A Arina Puzriakova Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.90 STT3A Arina Puzriakova 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
Congenital disorders of glycosylation v2.89 STT3A Arina Puzriakova Publications for gene: STT3A were set to 23842455; 28424003; 30701557
Congenital disorders of glycosylation v2.88 STT3A Arina Puzriakova Tag Q3_22_MOI tag was added to gene: STT3A.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh Tag for-review was removed from gene: STT3A.
Congenital disorders of glycosylation v2.80 STT3A Sarah Leigh commented on gene: STT3A: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.79 STT3A Sarah Leigh Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.78 STT3A Zornitza Stark changed review comment from: Three families reported to date.; to: Bi-allelic variants: Three families reported to date.
Congenital disorders of glycosylation v2.78 STT3A Zornitza Stark edited their review of gene: STT3A: Added comment: 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).; Changed publications to: 23842455, 30701557, 28424003, 34653363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital disorders of glycosylation v2.18 STT3A Arina Puzriakova Phenotypes for gene: STT3A were changed from ?Congenital disorder of glycosylation, type Iw 615596 to Congenital disorder of glycosylation, type Iw, 615596
Congenital disorders of glycosylation v2.17 STT3A Arina Puzriakova Publications for gene: STT3A were set to 23842455
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Classified gene: STT3A as Amber List (moderate evidence)
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Added comment: 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.
Congenital disorders of glycosylation v2.16 STT3A Arina Puzriakova Gene: stt3a has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.15 STT3A Arina Puzriakova Tag for-review tag was added to gene: STT3A.
Congenital disorders of glycosylation v2.14 STT3A Zornitza Stark reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw, OMIM #615596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation STT3A Sarah Leigh marked STT3A as ready
Congenital disorders of glycosylation STT3A Sarah Leigh commented on STT3A
Congenital disorders of glycosylation STT3A Sarah Leigh classified STT3A as amber
Congenital disorders of glycosylation STT3A Daniel Ungar reviewed STT3A