Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Possible mitochondrial disorder - nuclear genes v0.5 | HADHA | Ivone Leong reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LCHAD deficiency, 609016, Trifunctional protein deficiency, 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.4 | HADHA |
Ivone Leong gene: HADHA was added gene: HADHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015; LCHAD deficiency, 609016 |