NSD1

nuclear receptor binding SET domain protein 1
OMIM: 606681
PanelMode of inheritanceDetails
9 panels
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
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WEAVER SYNDROME 277590, BECKWITH-WIEDEMANN SYNDROME 130650, SOTOS SYNDROME 117550
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sotos syndrome 1, 117550
R-numbers: R21, R412
Signed-off version 4.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650, WEAVER SYNDROME (WES)
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sotos syndrome 1 117550
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sotos syndrome 1 117550