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Newborns main panel

Gene: CLPB

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is dominant negative (DN)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 34115842 - 10 cases
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 9, autosomal dominant
OMIM
616254
Clinvar variants
Variants in CLPB
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CLPB was added gene: CLPB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CLPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CLPB were set to Neutropenia, severe congenital, 9, autosomal dominant Mode of pathogenicity for gene: CLPB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments