Genomics England

pleckstrin homology domain interacting protein

Panel	Mode of inheritance	Details
Filter panels4 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 Developmental delay, ID, obesity and dysmorphic features
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Developmental delay, ID, obesity and dysmorphic features
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 INTELLECTUAL DISABILITY, Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Obesity, global developmental delay, intellectual disability, behavioral abnormality, dysmorphic facies