CBL

Cbl proto-oncogene
OMIM: 165360, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green CBL in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

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 1.38

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 1.35

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)

Amber CBL in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • Expert Review Amber
  • NHS GMS
  • Research
  • Literature
Phenotypes
  • early-onset moyamoya angiopathy
  • moyamoya disease, MONDO:0016820
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Tags
  • Q3_21_rating

Green CBL in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.23
Latest signed off version: v2.5 (4 Mar 2020)

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


Version 1.16
Latest signed off version: v1.4 (15 Oct 2020)

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 1.88

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 1.15

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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.14
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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

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


Version 1.730
Latest signed off version: v1.92 (21 Aug 2020)

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 2.49
Latest signed off version: v2.2 (13 Feb 2020)

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

    Green CBL in Growth failure in early childhood


    Version 1.86
    Latest signed off version: v1.4 (3 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
    • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA

    Red CBL in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Expert Review

    Green CBL in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1370
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563

    Green CBL in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.18
    Latest signed off version: v2.2 (2 Mar 2020)

    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

    Green CBL in Cardiomyopathies - including childhood onset


    Version 1.57
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert List
    • South West GLH
    • London South GLH
    • Expert Review Green
    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 Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563