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Intellectual disability v8.97 B9D1 Sarah Leigh Tag Q3_24_promote_green was removed from gene: B9D1.
Intellectual disability v8.97 B9D1 Sarah Leigh edited their review of gene: B9D1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v8.97 B9D1 Sarah Leigh Source NHS GMS was added to B9D1.
Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Classified gene: B9D1 as Amber List (moderate evidence)
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated individuals reported with Joubert syndrome, where intellectual disability or global developmental delay is part of the phenotype. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.53 B9D1 Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 21493627; 24886560; 25920555; 32622957
Intellectual disability v6.53 B9D1 Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 24886560; 25920555; 21493627
Intellectual disability v6.52 B9D1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: B9D1.
Intellectual disability v6.52 B9D1 Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622957; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.706 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 614209; Joubert syndrome 27 617120 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Intellectual disability v3.397 B9D1 Ivone Leong Classified gene: B9D1 as Amber List (moderate evidence)
Intellectual disability v3.397 B9D1 Ivone Leong Added comment: Comment on list classification: This gene has been promoted from Red to Amber. Mild ID was only seen in 1 case.
Intellectual disability v3.397 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.395 B9D1 Ivone Leong Publications for gene: B9D1 were set to 24886560; 25920555
Intellectual disability v3.0 B9D1 Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes