CREBBP

CREB binding protein
OMIM: 600140, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red CREBBP in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849

Red CREBBP in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome and Hirschsprung disease

Green CREBBP in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Rubenstein Taybi

Red CREBBP in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849

Red CREBBP in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849

Green CREBBP in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.50

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Rubinstein-Taybi syndrome, 180849 (microcephaly)

Green CREBBP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.192

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Rubinstein-Taybi syndrome 180849
  • Rubinstein-Taybi syndrome 180849

Red CREBBP in Cardiomyopathies - including childhood onset


Version 1.31

review Not set
Sources
  • London South GLH

Green CREBBP in Fetal anomalies


Version 0.306

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CREBBP intellectual disability without typical RTS features
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1

Red CREBBP in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.51

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Green CREBBP in DDG2P


Version 1.78

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
  • CREBBP intellectual disability without typical RTS features

Red CREBBP in Growth failure in early childhood


Version 0.62

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Rubenstein Taybi

Green CREBBP in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.171

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 1 180849

Green CREBBP in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.955

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rubinstein-Taybi syndrome, 180849
  • RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)

Green CREBBP in Groopman et al 2019 - Genes with diagnostic variants


Version 0.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • Congenital or cystic renal disease
  • Rubinstein-Taybi syndrome 1
  • Nephropathy of unknown origin
  • MIM 180849
  • Glomerulopathy