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Genetic epilepsy syndromes

Gene: CLPB

Amber List (moderate evidence)

CLPB (ClpB homolog, mitochondrial AAA ATPase chaperonin)
EnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Although there are three cases, most patients don't have seizures. Demoted from Green to Amber.
Created: 25 Nov 2019, 9:12 p.m. | Last Modified: 25 Nov 2019, 9:12 p.m.
Panel Version: 1.462
Added CLPB to panel based on epilepsy/seizure phenotype on the 'Inborn errors of metabolism' panel. There are multiple (>3) cases of patients with CLPB variants and seizures amongst their 3-MGA phenotype.
Created: 21 Oct 2019, 2:18 p.m. | Last Modified: 21 Oct 2019, 2:18 p.m.
Panel Version: 1.370

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: clpb has been classified as Amber List (Moderate Evidence).

21 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CLPB was added gene: CLPB was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Green Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 26916670; 25597510; 25597511 Phenotypes for gene: CLPB were set to Seizures; Generalised epilepsy; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271