Possible mitochondrial disorder - nuclear genes
Gene: CLPBThe mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the MOI update on this panel from biallelic to both based on current evidence.Created: 30 Aug 2022, 9:32 a.m. | Last Modified: 30 Aug 2022, 9:32 a.m.
Panel Version: 1.105
Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.
Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease including 3-MGA-uria in all cases. Some functional studies were performed which demonstrated changes in the mitochondrial proteome in patient fibroblasts.Created: 15 Nov 2021, 4:29 p.m. | Last Modified: 15 Nov 2021, 4:29 p.m.
Panel Version: 1.58
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q4_21_MOI was removed from gene: CLPB. Tag Q3_22_NHS_review was removed from gene: CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 26916670; 28687938; 34140661
Tag Q3_22_NHS_review tag was added to gene: CLPB.
Tag Q4_21_MOI tag was added to gene: CLPB.
Publications for gene: CLPB were set to
Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
gene: CLPB was added gene: CLPB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271