Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Acoustic neuroma |
R-numbers: R31 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | 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 |
R-numbers: R221 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NEUROFIBROMATOSIS, TYPE II, NF2 |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes NF2, Neurofibromatosis type 2, NEUROFIBROMATOSIS, TYPE II |