CREBBP

CREB binding protein
OMIM: 600140, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green CREBBP in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849

Green CREBBP in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 1 , MIM#180849

Green CREBBP in Glaucoma congenital


Level 2: Ophthalmological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 1, MIM# 180849

Green CREBBP in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rubinstein-Taybi syndrome 1, OMIM #180849

Green CREBBP in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 1, MIM# 180849
  • Menke-Hennekam syndrome 1, MIM# 618332

Green CREBBP in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Menke-Hennekam syndrome 1(MIM#618332)
  • Rubinstein-Taybi syndrome 1(MIM#180849)

Green CREBBP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Menke-Hennekam syndrome 1, MIM# 618332

    Green CREBBP in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CREBBP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Rubinstein-Taybi syndrome 1, MIM# 180849
    • Menke-Hennekam syndrome 1, MIM# 618332

    Green CREBBP in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review 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

    Green CREBBP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Rubinstein-Taybi syndrome

    Green CREBBP in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Menke-Hennekam syndrome 1, MIM# 618332

    Green CREBBP in Growth failure


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Rubinstein-Taybi syndrome 1, MIM# 180849
    • Menke-Hennekam syndrome 1, MIM# 618332

    Green CREBBP in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Rubinstein-Taybi syndrome 180849

    Green CREBBP in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Rubinstein-Taybi syndrome 1, MIM# 180849
    • Menke-Hennekam syndrome 1, MIM# 618332

    Red CREBBP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Rubinstein-Taybi syndrome 1, MIM# 180849
    • Menke-Hennekam syndrome 1, MIM# 618332

    Green ISCA-37406-Loss Region in Common deletion and duplication syndromes


    Version 0.137

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
    Tags
    • SV/CNV