CBL

Cbl proto-oncogene
OMIM: 165360, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green CBL in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Phenotypes Class: Ras-opathy Noonan-like JMML
Green CBL in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green CBL in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Other Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 NSLL Noonan syndrome-like disorder associated with JMML Fetal hydrops (in some patients)
Green CBL in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Research Literature 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 CBL in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert List Expert Review Green Expert list Phenotypes 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green CBL in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes NSLL NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Noonan-like disorder
Amber CBL in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Unknown	Sources Expert Review Amber BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Green CBL in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Noonan syndrome CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies
Green CBL in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green CBL in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Phenotypes Class: Ras-opathy Noonan-like JMML
Green CBL in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green CBL in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Red CBL in Early onset or syndromic epilepsy Level 2: Neurology Version 8.123 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert Review
Green CBL in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Green CBL in RASopathies Level 3: RASopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green CBL in Primary lymphoedema Level 2: Cardiology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Amber CBL in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert List South West GLH London South GLH Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Green CBL in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563