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Early onset or syndromic epilepsy v3.30 FASTKD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: FASTKD2.
Early onset or syndromic epilepsy v3.29 FASTKD2 Arina Puzriakova commented on gene: FASTKD2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v3.28 FASTKD2 Arina Puzriakova Source Expert Review Green was added to FASTKD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.588 FASTKD2 Arina Puzriakova Publications for gene: FASTKD2 were set to
Early onset or syndromic epilepsy v2.587 FASTKD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: FASTKD2.
Early onset or syndromic epilepsy v2.587 FASTKD2 Arina Puzriakova reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 35729327; Phenotypes: Combined oxidative phosphorylation deficiency 44, OMIM:618855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.587 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Early onset or syndromic epilepsy v2.586 FASTKD2 Arina Puzriakova Mode of inheritance for gene: FASTKD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.191 FASTKD2 Rebecca Foulger Source Wessex and West Midlands GLH was added to FASTKD2.
Early onset or syndromic epilepsy v1.190 FASTKD2 Rebecca Foulger Source NHS GMS was added to FASTKD2.
Early onset or syndromic epilepsy v1.189 FASTKD2 Rebecca Foulger reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FASTKD2 Tracy Lester reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28499982, 18771761, 25916514 ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Marked gene: FASTKD2 as ready
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1529 FASTKD2 Sarah Leigh Gene: fastkd2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy FASTKD2 Zornitza Stark reviewed gene: FASTKD2
Early onset or syndromic epilepsy FASTKD2 Sarah Leigh Added gene to panel