Genomics England

neurofibromin 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Acoustic neuroma
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Meningioma, NF2-related, somatic, 607174, Schwannomatosis, 162091, Neurofibromatosis, Type 2, Neurofibromatosis, Type II, loss of heterozygosity Neurofibromatosis, type 2, 101000, Acoustic neuroma
Green in Familial tumours of the nervous system R-numbers: R221 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Schwannomatosis, vestibular, OMIM:101000, NF2-related schwannomatosis, MONDO:0007039
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NEUROFIBROMATOSIS, TYPE II, NF2
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NF2, Neurofibromatosis type 2, NEUROFIBROMATOSIS, TYPE II