Genomics England

PTPN11

protein tyrosine phosphatase, non-receptor type 11

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 Noonan syndrome
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome, 163950
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LEOPARD SYNDROME TYPE 1 151100, NOONAN SYNDROME 1 163950
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes LEOPARD SYNDROME TYPE 1, NOONAN SYNDROME 1
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Class: Ras-opathy, Noonan syndrome, JMML, ALL, Solid tumors
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 Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250, LEOPARD SYNDROME TYPE 1
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes LEOPARD syndrome 1, OMIM:151100, Noonan syndrome 1, OMIM:163950
Green in Mosaic brain disorders - deep sequencing R-numbers: R429 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Focal cortical dysplasia, Mesial temporal sclerosis
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Phakomatosis pigmentovascularis (PPV), MONDO:0017318, LEOPARD syndrome 1, OMIM:151100, Speckled lentiginous naevus syndrome (deletion)
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome 1, LEOPARD syndrome 1 151100, LEOPARD syndrome 1, Noonan syndrome 1 163950, Noonan syndrome, syndromic HCM, LEOPARD syndrome
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome with lentigines (LEOPARD), LEOPARD SYNDROME 1, LPRD1, NOONAN SYNDROME 1, Noonan syndrome, NS1
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome 1 163950, LEOPARD syndrome 1 151100
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome type 1 163950, leopard syndrome 151100
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 Metachondromatosis 156250, LEOPARD syndrome 1 151100, Noonan syndrome 1 163950, LEOPARD syndrome 1 151100