Cytopenia - NOT Fanconi anaemia
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)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 8:15 a.m. | Last Modified: 1 Feb 2023, 8:15 a.m.

Panel Version: 2.3

Created: 1 Feb 2023, 8:15 a.m.
Last Modified: 1 Feb 2023, 8:15 a.m.
Panel version: 2.3

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber but should be made Green at the next GMS panel update.

Neutropenia is often reported and can be a severe and early feature, sometimes present from birth. Neutropenia was observed in at least 11 biallelic cases and 5 monoallelic cases which is sufficient for a Green rating under the MOI 'Both mono- and biallelic'
Created: 15 Nov 2021, 3:51 p.m. | Last Modified: 15 Nov 2021, 3:51 p.m.

Panel Version: 1.47

Created: 15 Nov 2021, 3:51 p.m.
Last Modified: 15 Nov 2021, 3:51 p.m.
Panel version: 1.47

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

additional evidence in PMID: 34115842
Created: 3 Jun 2022, 3:38 p.m. | Last Modified: 3 Jun 2022, 3:38 p.m.

Panel Version: 1.69

Neutropenia is a common feature among the individuals with CLPB variants
Created: 25 Oct 2021, 6:03 p.m. | Last Modified: 25 Oct 2021, 6:03 p.m.

Panel Version: 1.43

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neutropenia; intellectual disability

Publications

PMID: 34140661, 34115842

Created: 25 Oct 2021, 6:03 p.m.
Last Modified: 25 Oct 2021, 6:03 p.m.
Panel version: 1.69

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: 14 patients in original cohort. Phenotype varies from severe neuropathy to just neutropenia with cataracts, although elevated 3-MGA in urine is diagnostic in all patients; North West GLH: Progressive brain atrophy, intellectual disability, neutropaenia, cataracts & movement disorder; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.

Panel Version: 0.135

Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert review Red
NHS GMS
North West GLH
London South GLH
Yorkshire and North East GLH
Wessex and West Midlands GLH

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

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_rating was removed from gene: CLPB.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CLPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2