Likely inborn error of metabolism
Gene: CLPBEnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 12 panels
5 reviews
Sarah Leigh (Genomics England Curator)
The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
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.
Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype overlapped with that observed in the recessive disease including neurodevelopmental delay, seizures, 3-MGA-uria, and neutropenia. Some functional studies of heterozygous variants were performed.Created: 15 Nov 2021, 2:36 p.m. | Last Modified: 15 Nov 2021, 2:36 p.m.
Panel Version: 2.198
Zornitza Stark (Australian Genomics)
Association between bi-allelic variants and disease is well established.
Mono-allelic variants: six unrelated individuals reported with de novo variants and neutropaenia, epilepsy, developmental issues, and 3-methylglutaconic aciduria.Created: 8 Jul 2021, 8:14 a.m. | Last Modified: 8 Jul 2021, 8:14 a.m.
Panel Version: 2.150
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Publications
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.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- 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
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_MOI was removed from gene: CLPB.
Added New Source, Set mode of inheritance
Ivone Leong (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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 25595726
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI tag was added to gene: CLPB.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder for gene: CLPB Publications for gene CLPB were changed from PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 to 25597510; 25597511; 25650066; 25595726
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CLPB was added gene: CLPB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 25597510; PMID: 25650066; PMID: 25597511; PMID: 25595726 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder