Bone Marrow Failure
Gene: CLPBEnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 12 panels
2 reviews
Santosh Varughese (University of Melbourne)
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)
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 listCreated: 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Fetal anomalies
- Prepair 1000+
- Phagocyte Defects
- Mendeliome
- Bone Marrow Failure
- Mitochondrial disease
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clpb has been classified as Green List (High Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clpb has been classified as Green List (High Evidence).
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