Genomics England

NF1

neurofibromin 1

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurofibromatosis
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes WATSON SYNDROME 193520, NEUROFIBROMATOSIS TYPE 1 162200, NEUROFIBROMATOSIS-NOONAN SYNDROME 601321, FAMILIAL SPINAL NEUROFIBROMATOSIS 162210
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NEUROFIBROMATOSIS-NOONAN SYNDROME, FAMILIAL SPINAL NEUROFIBROMATOSIS, NEUROFIBROMATOSIS TYPE 1, WATSON SYNDROME
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurofibromatosis, type 1, OMIM:162200
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	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)
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neurofibromatosis type I
Green in Neurofibromatosis type 1 (GMS) R-numbers: R222 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NEUROFIBROMATOSIS, TYPE I, NF1, Neurofibromatosis type I
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurofibromatosis-Noonan syndrome 601321, Neurofibromatosis, type 1 162200
Green in Sarcoma susceptibility Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurofibromatosis, type 1 162200
Green in Segmental or atypical neurofibromatosis type 1 testing R-numbers: R376 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	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