Cerebral Palsy
Gene: CTBP1EnsemblGeneIds (GRCh38): ENSG00000159692
EnsemblGeneIds (GRCh37): ENSG00000159692
OMIM: 602618, Gene2Phenotype
CTBP1 is in 4 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional individual reported with mono-allelic LP missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 27 May 2024, 5 a.m. | Last Modified: 27 May 2024, 5 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
Two independent patients in one large CP cohort studies with the same mutations in this gene (p.R342W), both heterozygous, one of them confirmed de novo.
Another recurrent, possibly dominant negative functioning mutation described as causing an ID syndrome with ataxia, hypotonia and tooth enamel defects. Since there is no phenotype given in the CP cohort study, a possible phenotypic overlap cannot be ruled out.
Sources: LiteratureCreated: 28 May 2023, 11:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915
- OMIM
- 602618
- Clinvar variants
- Variants in CTBP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctbp1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctbp1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: CTBP1 was added gene: CTBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTBP1 were set to 33528536 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 Review for gene: CTBP1 was set to AMBER