Ketotic hypoglycaemia
Gene: PCCBEnsemblGeneIds (GRCh38): ENSG00000114054
EnsemblGeneIds (GRCh37): ENSG00000114054
OMIM: 232050, Gene2Phenotype
PCCB 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 has multiple cases with different variants reported on OMIM.Created: 8 Jun 2016, 11:44 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, as well as review.Created: 20 Apr 2016, 1:41 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- Propionicacidemia
- Propionic acidemia
- OMIM
- 232050
- Clinvar variants
- Variants in PCCB
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Likely inborn error of metabolism
- Intellectual disability
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Hyperammonaemia
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 Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionicacidemia; Propionic acidemia
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PCCB were set to as PCCA; Propionicacidemia
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PCCB 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)PCCB was added to Ketotic hypoglycaemiapanel. Sources: Literature