Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Mendeliome v1.2328 DUOX1 Bryony Thompson Phenotypes for gene: DUOX1 were changed from congenital hypothyroidism, No OMIM # to congenital hypothyroidism MONDO:0018612
Mendeliome v1.2327 DUOX1 Bryony Thompson Publications for gene: DUOX1 were set to 29650690
Mendeliome v1.2326 DUOX1 Bryony Thompson Classified gene: DUOX1 as Red List (low evidence)
Mendeliome v1.2326 DUOX1 Bryony Thompson Gene: duox1 has been classified as Red List (Low Evidence).
Mendeliome v1.2325 DUOX1 Bryony Thompson reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown
Mendeliome v0.6204 DUOX1 Zornitza Stark Marked gene: DUOX1 as ready
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6204 DUOX1 Zornitza Stark Classified gene: DUOX1 as Amber List (moderate evidence)
Mendeliome v0.6204 DUOX1 Zornitza Stark Gene: duox1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6203 DUOX1 Zornitza Stark gene: DUOX1 was added
gene: DUOX1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DUOX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DUOX1 were set to 29650690
Phenotypes for gene: DUOX1 were set to congenital hypothyroidism, No OMIM #
Review for gene: DUOX1 was set to AMBER
Added comment: 11 cases, but digenic model, with variants in other genes.
Sources: Expert Review