Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trifunctional protein deficiency, OMIM:609015 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Trifunctional protein deficiency, OMIM:609015, Mitochondrial trifunctional protein deficiency, MONDO:0012172 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Trifunctional protein deficiency 609015 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), Trifunctional protein deficiency 609015, Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism, Mitochondrial Trifunctional Protein deficiency, HCM |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 |