CREBBP

CREB binding protein
OMIM: 600140, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green CREBBP in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	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 0.418	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 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rubinstein-Taybi syndrome 1, OMIM #180849
Green CREBBP in Mendeliome Version 1.1902	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 1.269	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 1.33 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 0.522	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 0.6063	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 0.285	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 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 0.74 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 1.255	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 1.114	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