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Intellectual disability v3.0 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.688 ABAT Louise Daugherty Phenotypes for gene: ABAT were changed from GABA-transaminase deficiency, 613163 to GABA-transaminase deficiency, 613163; developmental delay
Intellectual disability v2.687 ABAT Louise Daugherty Classified gene: ABAT as Amber List (moderate evidence)
Intellectual disability v2.687 ABAT Louise Daugherty Added comment: Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review there is not enough evidence to support gene-disease association rating of this gene to Green.
Intellectual disability v2.687 ABAT Louise Daugherty Gene: abat has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.686 ABAT Louise Daugherty Publications for gene: ABAT were set to 27596361; 28411234
Intellectual disability v2.685 ABAT Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Intellectual disability v2.685 ABAT Louise Daugherty Publications for gene: ABAT were set to 27596361
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234; Phenotypes: GABA-transaminase deficiency (MIM 613163); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28411234; Phenotypes: GABA-transaminase deficiency (MIM 613163); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability ABAT BRIDGE consortium edited their review of ABAT
Intellectual disability ABAT BRIDGE consortium edited their review of ABAT
Intellectual disability ABAT Louise Daugherty classified ABAT as amber
Intellectual disability ABAT Louise Daugherty commented on ABAT
Intellectual disability ABAT BRIDGE consortium reviewed ABAT