Hyperinsulinism
Gene: CREBBPEnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 17 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease association.
Hyperinsulinaemic hypoglycaemia reported in less than 5%.
Sources: LiteratureCreated: 14 May 2024, 5:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rubinstein-Taybi syndrome 1, OMIM #180849
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Rubinstein-Taybi syndrome 1, OMIM #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).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: crebbp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CREBBP was added gene: CREBBP was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588 Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM #180849 Review for gene: CREBBP was set to GREEN gene: CREBBP was marked as current diagnostic