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| Cardiomyopathy_Paediatric v1.145 | HADHB | Zornitza Stark Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.145 | HADHB | Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.145 | HADHB | Zornitza Stark Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) to mitochondrial trifunctional protein deficiency, MONDO:0012172 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.144 | HADHB | Zornitza Stark Publications for gene: HADHB were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.143 | HADHB | Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 39088276, 28515471; Phenotypes: mitochondrial trifunctional protein deficiency, MONDO:0012172; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | HADHB | Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.134 | HADHB | Zornitza Stark Tag treatable tag was added to gene: HADHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) |
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