Cerebral Palsy
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional individual reproted with mono-allelic LP variant (frameshift insertion) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 27 May 2024, 4:55 a.m. | Last Modified: 27 May 2024, 4:55 a.m.
Panel Version: 1.193
Phenotypes
Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
3 independent patients in 2 large CP cohort studies describes as having heterozygous de novo mutations in this gene. One mutation (PMID: 34788679) is a frameshift mutation, the two other mutations (PMID: 33528536) are missense mutations, one of which (p.M1872V) was already described twice in patients with Menke-Hennekam syndrome. Possible phenotypic overlap with ID syndrome.
Sources: LiteratureCreated: 28 May 2023, 11:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hyperinsulinism
- Glaucoma congenital
- Clefting disorders
- Microcephaly
- Common deletion and duplication syndromes
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hand and foot malformations
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Callosome
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crebbp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: crebbp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: CREBBP was added gene: CREBBP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to 33528536; 34788679 Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849 Review for gene: CREBBP was set to GREEN