Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Propionicacidemia 606054 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PROPIONIC ACIDEMIA 606054 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Propionicacidemia 606054 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PROPIONIC ACIDEMIA |
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 as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections), Propionic acidemia, Propionicacidemia 606054, Propionicacidemia, Propionic aciduria (Organic acidurias) |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections), DCM, Hypertrophic-hypocontractile cardiomyopathy, Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap, Propionicacidemia, Propionic aciduria, Propionicacidemia 606054, Propionic acidemia, Propionic aciduria (Organic acidurias) |