Mitochondrial disorders
Gene: CLPB

CLPB (ClpB homolog, mitochondrial AAA ATPase chaperonin)
EnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 12 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Created: 1 Feb 2023, 12:16 p.m.
Last Modified: 1 Feb 2023, 12:16 p.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease including 3-MGA-uria in all cases. Some functional studies were performed which demonstrated changes in the mitochondrial proteome in patient fibroblasts.
Created: 15 Nov 2021, 4:29 p.m. | Last Modified: 15 Nov 2021, 4:29 p.m.

Panel Version: 2.61

Created: 15 Nov 2021, 4:29 p.m.
Last Modified: 15 Nov 2021, 4:29 p.m.
Panel version: 2.61

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is currently green on the intellectual disability panel, as well as being rated as green by the reviewer who added it. It is a confirmed DD gene for 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.
Created: 15 Feb 2016, 11:03 a.m.

Created: 15 Feb 2016, 11:03 a.m.

Panel version: 0.287

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 10:55 a.m.

Panel version: 0.36

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271
3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835
Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813

OMIM

616254

Clinvar variants

Variants in CLPB

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: CLPB.

1 Feb 2023, Gel status: 3

Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CLPB. Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 Aug 2022, Gel status: 3