Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Mitochondrial disorders v6.4 HADHB Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HADHB.
Mitochondrial disorders v6.4 HADHB Sarah Leigh edited their review of gene: HADHB: Changed rating: GREEN
Mitochondrial disorders v6.3 HADHB Sarah Leigh edited their review of gene: HADHB: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v6.2 HADHB Achchuthan Shanmugasundram Source Expert Review Green was added to HADHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HADHB.
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.133 HADHB Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Mitochondrial disorders v4.132 HADHB Achchuthan Shanmugasundram Publications for gene: HADHB were set to
Mitochondrial disorders v4.131 HADHB Achchuthan Shanmugasundram reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35403730; Phenotypes: Mitochondrial trifunctional protein deficiency 2, OMIM:620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.113 HADHB Dmitrijs Rots reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35403730; Phenotypes: episodic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.113 HADHB Dmitrijs Rots reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35403730; Phenotypes: episodic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.412 HADHB Sarah Leigh reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADHA Sarah Leigh reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADH Sarah Leigh reviewed gene: HADH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 HADHB Sarah Leigh gene: HADHB was added
gene: HADHB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADHA Sarah Leigh gene: HADHA was added
gene: HADHA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADH Sarah Leigh gene: HADH was added
gene: HADH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975