Mitochondrial disorders
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, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
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: 2.61
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.
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
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
Tag Q4_21_MOI tag was added to gene: CLPB.
Publications for gene: CLPB were set to PMID: 25595726; PMID: 25597510; PMID: 25597511; PMID: 25650066
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 with the following: cataract, renal cysts and nephrocalcinosis; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Victorian Clinical Genetics Services was added to CLPB. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CLPB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
CLPB was created by [email protected]