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Genetic epilepsy syndromes

Gene: PCCB

Green List (high evidence)

PCCB (propionyl-CoA carboxylase beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000114054
EnsemblGeneIds (GRCh37): ENSG00000114054
OMIM: 232050, Gene2Phenotype
PCCB is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR propionicacidemia - episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental reardation and an intolerance to protein, can also seizures. Gene Reviews - Shchelochkov et al, 2012 - Reported in 13-53% and EEG abnormalities seen in 40-63% of individuals wih PA. Alghamdi et al, 2018 - 14 PA patients from Saudi - 6/14 developed seizures mainly focal 12/14 have hom missese variants in PCCA 10 havre the same change Gly142Asp. 2/14 hom fs variant in PCCB gene (1/2 of these patients had seizures).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidemia, 606054

Publications

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoted to green on the basis that there are sufficient cases of variants in this gene in patients with a relevant phenotype, and that seizures are reported in 12-53% of patients.
Created: 4 Dec 2018, 3:02 p.m.
PCCB, along with PCCA, is associated with Propionicacidemia in OMIM and Gene2phenotype. >3 variants have been reported in PCCB in patients with Propionicacidemia. The incidence of seizures in patients with Propionicacidemia (which could be a result of variants in either gene) is 12-53% (Shchelochkov et al 2012 - GeneReviews - PMID: 22593918)

AlGhamdi et al 2018 (PMID: 30014764) report 2 patients from Saudi Arabia with homozygous duplication in exon 11 of the PCCB gene (c.1050dupT p. E351X) . 1 of these patients had seizures.
Created: 20 Nov 2018, 4:33 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.
Created: 18 Aug 2018, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Propionicacidemia, MIM#606054

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PCCB.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PCCB.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pccb has been classified as Green List (High Evidence).

20 Nov 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PCCB were changed from to Propionicacidemia 606054

20 Nov 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PCCB were set to

20 Nov 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PCCB. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PCCB was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PCCB was created by Sarah Leigh