Genomics England

NSD1

nuclear receptor binding SET domain protein 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650, Sotos Syndrome, Weaver Syndrome, Sotos syndrome 1, 117550
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Sotos syndrome, OMIM:117550, Sotos syndrome 1, MONDO:0007299
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes WEAVER SYNDROME 277590, BECKWITH-WIEDEMANN SYNDROME 130650, SOTOS SYNDROME 117550
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 4.134	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Sotos syndrome 1, 117550
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes WEAVER SYNDROME, BECKWITH-WIEDEMANN SYNDROME, SOTOS SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Sotos syndrome 1, OMIM:117550
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650, WEAVER SYNDROME (WES)
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Sotos syndrome 1 117550
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Sotos syndrome 1 117550