Genomics England

GNB1

G protein subunit beta 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855
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 7.54	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855
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 Mental retardation, autosomal dominant 42 OMIM:616973, intellectual disability, autosomal dominant 42 MONDO:0014855
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.22	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 42, OMIM:616973, cutaneous mastocytosis, MONDO:0019023