1. Genes and Genomic Entities
  2. CREBBP

CREBBP

CREB binding protein
OMIM: 600140, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red CREBBP in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

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 1.10

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome and Hirschsprung disease
Green CREBBP in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 1, OMIM:180849
Green CREBBP in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59

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 1.5

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


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
No list CREBBP in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Rubinstein-Taybi Syndrome
  • Hypogammaglobulinemia
  • short stature
  • Intellectual disability
  • broad thumbs and first toes
  • highly arched eyebrows
  • long eyelashes
  • downslanting palpebral fissures
  • convex nasal ridge
  • low hanging columella
  • highly arched palate
  • micrognathia
Red CREBBP in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.25

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 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Rubinstein-Taybi syndrome, 180849 (microcephaly)
Green CREBBP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age
    Green CREBBP in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 3.88
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Rubenstein Taybi
    Green CREBBP in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rubinstein-Taybi syndrome 1 180849
    Green CREBBP in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rubinstein-Taybi syndrome 1, OMIM:180849
    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
    Red CREBBP in Sarcoma susceptibility


    Version 1.81
    Latest signed off version: v1.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review Red
    • Literature
    Phenotypes
    • Rubinstein-Taybi syndrome 1, OMIM:180849
    • Rhabdomyosarcoma (disease), MONDO:0005212
    Green CREBBP in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rubinstein-Taybi syndrome 1, 180849
    • Menke-Hennekam syndrome 1, 618332