Skeletal dysplasia
Gene: CREBBP
CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association with RTS, deletions reasonably frequent. Menke-Hennekam syndrome-1 (MKHK1) is an allelic disorder caused by heterozygous variants in exon 30 or 31 of the CREBBP gene, and characterised by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment, short stature, and microcephaly are also frequently seen. Over 20 individuals reported.Created: 2 Sep 2020, 9:40 a.m. | Last Modified: 2 Sep 2020, 9:40 a.m.
Panel Version: 0.4125
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Rubinstein-Taybi syndrome 180849
- Rubinstein-Taybi syndrome 180849
- OMIM
- 600140
- Clinvar variants
- Variants in CREBBP
- Penetrance
- None
- 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
17 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CREBBP was added gene: CREBBP was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 180849; Rubinstein-Taybi syndrome 180849