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Genetic epilepsy syndromes

Gene: CBL

Red List (low evidence)

CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels

9 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AD Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia. OMIM epilepsy/seizures are not a feature. Ref in panel app - Martin et al, 2014 - WES in cases with severe early onset epilesy 1 patient had a de novo variant in this gene.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Juvenile myelomonocytic leukemia, 607785; Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563

Publications

Sarah Leigh (Genomics England Curator)

Seizures do not appear to be a feature of the phenotypes associated with this gene: ?Juvenile myelomonocytic leukemia 607785; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Created: 16 Oct 2018, 3:44 p.m.

Louise Daugherty (Genomics England Curator)

Comment on publications: converted paper name to PMID
Created: 11 Apr 2018, 4:21 p.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Martin et al (2014) Hum Mol Genet 23(12).3200-3211

Ellen McDonagh (Genomics England Curator)

Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 3:56 p.m.

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CBL.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CBL.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cbl has been classified as Red List (Low Evidence).

11 Apr 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CBL were set to 24463883

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CBL was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert Review

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CBL was created by Sarah Leigh