CREBBP

CREB binding protein
OMIM: 600140, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red CREBBP in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	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 1.11	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 1.47	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 1.70	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 1.6	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Rubinstein-Taybi syndrome 1, 180849
Red CREBBP in Ectodermal dysplasia Level 2: Dermatology Version 4.25 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Rubinstein-Taybi syndrome 1, 180849
Green CREBBP in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.84 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Literature Phenotypes Rubinstein-Taybi syndrome 1, OMIM:180849
Red CREBBP in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.26	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 2: Neurology Version 8.34 Latest signed off version: v8.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	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
Green CREBBP in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age
Green CREBBP in DDG2P Version 6.426 Latest signed off version: v6.0 (30 Apr 2025) 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
Green CREBBP in Early onset or syndromic epilepsy Level 2: Neurology Version 8.147 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders 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 Level 2: Developmental disorders Version 9.304 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Rubinstein-Taybi syndrome 1, OMIM:180849
Red CREBBP in Sarcoma susceptibility Level 2: Cancer susceptibility Version 1.82 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
Red CREBBP in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Rubenstein Taybi