Immunological disorders_SuperPanel_PanelAppAustralia
Gene: CLPBEnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 12 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 616254
- Clinvar variants
- Variants in CLPB
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: CLPB was added gene: CLPB was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLPB was set to Unknown