Genomics England

protein phosphatase 2 regulatory subunit B'delta

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 35 OMIM:616355, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mental retardation, autosomal dominant 35, OMIM:616355
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes INTELLECTUAL DISABILITY