Genomics England

CREBBP

CREB binding protein

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849, CREBBP intellectual disability without typical RTS features
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rubinstein-Taybi syndrome 1 180849
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CREBBP intellectual disability without typical RTS features, RUBINSTEIN-TAYBI SYNDROME TYPE 1
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rubinstein-Taybi syndrome, 180849, RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1)
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rubinstein-Taybi syndrome, 180849 (microcephaly)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Rubinstein-Taybi syndrome 180849, Rubinstein-Taybi syndrome 180849
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Rubinstein-Taybi syndrome 1, OMIM:180849