Bone Marrow Failure

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

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIB; 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIA; NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT

Publications

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

Pasquale Barbaro (University of Sydney)

Green List (high evidence)

Biallelic variants identified have been loss of function, and cause a severe syndrome associated with 3-MGA, cataracts, developmental delay, epilepsy. Heterozygous variants have been found in one paper (Warren et al) in 10 patients with non-syndromic congenital neutropenia and appear to cause a dominant negative effect.
Sources: Expert list
Created: 30 Jul 2023, 11:24 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
  • 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271
  • congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy
OMIM
616254
Clinvar variants
Variants in CLPB
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLPB were changed from congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy

1 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jul 2023, Gel status: 0

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

Pasquale Barbaro (University of Sydney)

gene: CLPB was added gene: CLPB was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: CLPB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 34115842, 25597510, 25597511 Phenotypes for gene: CLPB were set to congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy Penetrance for gene: CLPB were set to unknown Mode of pathogenicity for gene: CLPB was set to Other Review for gene: CLPB was set to GREEN