| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 |
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| 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 |
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| 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 |
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