NF1

PanelMode of inheritanceDetails
13 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200, Noonan syndrome, Neurofibromatosis syndrome 1, Neurofibromatosis-Noonan syndrome 601321, Neurofibromatosis Noonan syndrome, Neurofibromatosis-Noonan Syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WATSON SYNDROME 193520, NEUROFIBROMATOSIS TYPE 1 162200, NEUROFIBROMATOSIS-NOONAN SYNDROME 601321, FAMILIAL SPINAL NEUROFIBROMATOSIS 162210
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEUROFIBROMATOSIS-NOONAN SYNDROME, FAMILIAL SPINAL NEUROFIBROMATOSIS, NEUROFIBROMATOSIS TYPE 1, WATSON SYNDROME
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: Ras-opathy, Neurofibromatosis, JMML, AML, Optic glioma, malignant peripheral nerve sheath tumor
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520, NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS)
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis type I
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NEUROFIBROMATOSIS, TYPE I, NF1, Neurofibromatosis type I
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis-Noonan syndrome 601321, Neurofibromatosis, type 1 162200
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis, type 1 162200
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200, Neurofibromatosis, type 1 162200, Neurofibromatosis, familial spinal 162210, Neurofibromatosis-Noonan syndrome 601321, Neurofibromatosis, familial spinal 162210, Neurofibromatosis-Noonan syndrome 601321
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurofibromatosis-Noonan syndrome, 601321, Leukemia, juvenile myelomonocytic, 607785, Neurofibromatosis, Type I, Neurofibromatosis-Noonan syndrome 601321, Watson syndrome, 193520, Neurofibromatosis, type 1, 162200, Neurofibromatosis, familial spinal, 162210, Neurofibromatosis, Type 1, Melanoma, desmoplastic neurotrophic (2), Neurofibromatosis, type 1 162200