Bone Marrow Failure
Gene: CLPB
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
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
Gene: clpb has been classified as Green List (High Evidence).
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
Gene: clpb has been classified as Green List (High Evidence).
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