Genomics England

E1A binding protein p300

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2)
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Rubinstein-Taybi syndrome 2, OMIM:613684