Genomics England

CBL

Cbl proto-oncogene

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes cerebral arterial disease, MONDO:0006693, Moyamoya disease, MONDO:0016820, early-onset moyamoya angiopathy, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 613563, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Green in Embryonal tumour of possible germline origin R-numbers: R456 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CBL-related disorder, MONDO:0013308, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563, ?Juvenile myelomonocytic leukemia, OMIM:607785
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green in Haematological malignancies cancer susceptibility Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Class: Ras-opathy, Noonan-like, JMML
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NSLL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, Noonan-like disorder
Green in Primary lymphoedema R-numbers: R136 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green in Sarcoma of possible germline origin R-numbers: R457 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563, CBL-related disorder, MONDO:0013308, ?Juvenile myelomonocytic leukemia, OMIM:607785