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Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is a single family and functional evidence available in support of the association of OXA1L to this panel. Hence, this gene should be promoted to amber.
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is a single family and functional evidence available in support of the association of OXA1L to this panel. Hence, this gene should be promoted to amber.
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.147 OXA1L Achchuthan Shanmugasundram Publications for gene: OXA1L were set to
Mitochondrial disorders v4.146 OXA1L Achchuthan Shanmugasundram reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 OXA1L Zornitza Stark reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30201738, 16435202; Phenotypes: encephalopathy, hypotonia, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.468 OXA1L Sarah Leigh Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.116 OXA1L Ellen McDonagh Classified gene: OXA1L as Red List (low evidence)
Mitochondrial disorders v1.116 OXA1L Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene only has a single family report.
Mitochondrial disorders v1.116 OXA1L Ellen McDonagh Gene: oxa1l has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.101 OXA1L Ellen McDonagh reviewed gene: OXA1L: Rating: ; Mode of pathogenicity: None; Publications: 30201738; Phenotypes: ; Mode of inheritance: None