Genetic epilepsy syndromesGene: CBL
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
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
?Juvenile myelomonocytic leukemia, 607785; Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
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.
Comment on publications: converted paper name to PMID
Created: 11 Apr 2018, 4:21 p.m.
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.
Source Wessex and West Midlands GLH was added to CBL.
Source NHS GMS was added to CBL.
Ellen McDonagh: Gene added in expert review of
Gene: cbl has been classified as Red List (Low Evidence).
Publications for CBL were set to 24463883
CBL was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert Review
CBL was created by Sarah Leigh