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Intellectual disability v8.128 DHRSX Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #301133).
Intellectual disability v8.128 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071 to Congenital disorder of glycosylation, type 1DD, OMIM:301133
Intellectual disability v8.127 DHRSX Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX.
Intellectual disability v8.97 DHRSX Sarah Leigh Tag Q3_24_promote_green was removed from gene: DHRSX.
Intellectual disability v8.97 DHRSX Sarah Leigh reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.97 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)
Intellectual disability v7.61 DHRSX Achchuthan Shanmugasundram Phenotypes for gene: DHRSX were changed from to congenital disorder of glycosylation, MONDO:0015286; intellectual disability, MONDO:0001071
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.; to: 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.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Classified gene: DHRSX as Amber List (moderate evidence)
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.60 DHRSX Achchuthan Shanmugasundram Gene: dhrsx has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.59 DHRSX Achchuthan Shanmugasundram Publications for gene: DHRSX were set to
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.58 DHRSX Achchuthan Shanmugasundram Mode of inheritance for gene: DHRSX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DHRSX.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram changed review comment from: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:38821050 reported the identification of biallelic missense variants in DHRSX gene in four patients from three unrelated families with a congenital disorder of glycosylation. They displayed distinct facial features, severe neurological involvement including hypotonia, scoliosis, contractures, profound intellectual disability, epilepsy, and sensorineural hearing loss. These patients also experienced severe failure to thrive (requiring tube feeding); variable respiratory insufficiency; and involvement of the eyes, the gastrointestinal system, and other organs.

This gene has not yet been associated with any relevant phenotypes in OMIM or in Gene2Phenotype.
Intellectual disability v7.57 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38821050; Phenotypes: congenital disorder of glycosylation, MONDO:0015286, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.1 DHRSX Miel Theunis reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821050; Phenotypes: CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1406 DHRSX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: DHRSX.
Intellectual disability v2.1101 DHRSX Eleanor Williams Added comment: Comment on mode of inheritance: This gene is in the pseudoautosomal region shared between chromosomes X and Y. The mode of inheritance should therefore be set to Biallelic or Monoallelic once more cases establish the inheritance pattern.
Intellectual disability v2.1101 DHRSX Eleanor Williams Mode of inheritance for gene: DHRSX was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown