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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 |
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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) |
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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 |
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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. |
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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 |