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| Likely inborn error of metabolism - targeted testing not possible v3.6 | STT3A | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: STT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.6 | STT3A | Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v3.5 | STT3A |
Achchuthan Shanmugasundram 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) |
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| Likely inborn error of metabolism - targeted testing not possible v2.262 | STT3A | Arina Puzriakova Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.262 | STT3A | Arina Puzriakova Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.261 | STT3A | Arina Puzriakova Tag Q3_22_rating tag was added to gene: STT3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.261 | STT3A | Arina Puzriakova Publications for gene: STT3A were set to 23842455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.260 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.51 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | STT3A |
Ellen McDonagh 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 |
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