Activity
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10 actions
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| Likely inborn error of metabolism v7.13 | DHRSX | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #301133). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.13 | DHRSX | Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286 to Congenital disorder of glycosylation, type 1DD, OMIM:301133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DHRSX | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DHRSX | Sarah Leigh Tag Q3_24_promote_green was removed from gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DHRSX | Sarah Leigh reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.12 | DHRSX |
Sarah Leigh Source NHS GMS was added to DHRSX. Source Expert Review Green was added to DHRSX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v7.9 | DHRSX | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene has already been recommended for promotion to green rating on the Congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/DHRSX/). Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: This gene has already been recommended for promotion to green rating on the Congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/DHRSX/). Hence, this gene should be promoted to green rating on this panel in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.9 | DHRSX | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: This gene has already been recommended for promotion to green rating on the Congenital disorders of glycosylation panel (https://panelapp.genomicsengland.co.uk/panels/25/gene/DHRSX/). Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.9 | DHRSX | Achchuthan Shanmugasundram Entity copied from Congenital disorders of glycosylation v6.8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.9 | DHRSX |
Achchuthan Shanmugasundram gene: DHRSX was added gene: DHRSX was added to Likely inborn error of metabolism. Sources: Expert Review Amber Q3_24_promote_green, Pseudoautosomal region 1 tags were added to gene: DHRSX. Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHRSX were set to 38821050 Phenotypes for gene: DHRSX were set to congenital disorder of glycosylation, MONDO:0015286 Penetrance for gene: DHRSX were set to Complete |
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