Ketotic hypoglycaemia
Gene: PCCAEnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA is in 12 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a confirmed DD gene for Propionic acidemia and multiple reports for different variants on OMIM.Created: 8 Jun 2016, 11:31 a.m.
Comment on mode of inheritance: Confirmed by G2P and OMIM, as well as review.Created: 20 Apr 2016, 1:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
- Propionicacidemia
- Propionic acidemia
- OMIM
- 232000
- Clinvar variants
- Variants in PCCA
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Ketotic hypoglycaemia
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PCCA was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PCCA were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionicacidemia; Propionic acidemia
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PCCA was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)PCCA was added to Ketotic hypoglycaemiapanel. Sources: Literature