Activity
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11 actions
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| Congenital disorders of glycosylation v6.11 | DHRSX | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #301133). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.11 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.10 | DHRSX | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.10 | DHRSX | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: DHRSX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.10 | DHRSX | Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.9 | DHRSX |
Arina Puzriakova Source Expert Review Green was added to DHRSX. Source NHS GMS was added to DHRSX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v6.7 | DHRSX | Achchuthan Shanmugasundram edited their review of gene: DHRSX: Changed phenotypes to: congenital disorder of glycosylation, MONDO:0015286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.7 | DHRSX | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated families reported with intellectual disability and hence there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.7 | DHRSX | Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.6 | DHRSX | Achchuthan Shanmugasundram Entity copied from Intellectual disability v7.60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.6 | DHRSX |
Achchuthan Shanmugasundram gene: DHRSX was added gene: DHRSX was added to Congenital disorders of glycosylation. 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 Penetrance for gene: DHRSX were set to Complete |
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