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Mitochondrial disorders v4.155 | CRAT | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.155 | CRAT | Achchuthan Shanmugasundram Classified gene: CRAT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.155 | CRAT | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case each with NBIA and Leigh syndrome. Hence, this gene can be promoted to amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.155 | CRAT | Achchuthan Shanmugasundram Gene: crat has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.154 | CRAT | Achchuthan Shanmugasundram Classified gene: CRAT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.154 | CRAT | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with NBIA and Leigh syndrome. Hence, this gene can be promoted to amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.154 | CRAT | Achchuthan Shanmugasundram Gene: crat has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.153 | CRAT | Achchuthan Shanmugasundram edited their review of gene: CRAT: Changed phenotypes to: ?Neurodegeneration with brain iron accumulation 8, OMIM:617917, Leigh syndrome, MONDO:0009723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.153 | CRAT | Achchuthan Shanmugasundram Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, MONDO:0009723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.152 | CRAT | Achchuthan Shanmugasundram Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8 617917 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.151 | CRAT | Achchuthan Shanmugasundram Publications for gene: CRAT were set to 29395073; 29903433; 31448845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.151 | CRAT | Achchuthan Shanmugasundram Publications for gene: CRAT were set to 29903433; 29395073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.150 | CRAT | Achchuthan Shanmugasundram Mode of inheritance for gene: CRAT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.149 | CRAT | Achchuthan Shanmugasundram reviewed gene: CRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Neurodegeneration with brain iron accumulation 8, OMIM:617917, Leigh syndrome, OMIM:MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.5 | CRAT | Zornitza Stark reviewed gene: CRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 29395073, 31448845; Phenotypes: Neurodegeneration with brain iron accumulation 8, MIM# 617917, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.431 | CRAT | Sarah Leigh Phenotypes for gene: CRAT were changed from to ?Neurodegeneration with brain iron accumulation 8 617917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.431 | CRAT | Sarah Leigh Publications for gene: CRAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.423 | CRAT | Sarah Leigh reviewed gene: CRAT: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29395073; Phenotypes: ?Neurodegeneration with brain iron accumulation 8 617917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.422 | CRAT |
Sarah Leigh gene: CRAT was added gene: CRAT was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: CRAT was set to |