Genetic epilepsy syndromesGene: CLN5
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
Could neuronal Ceroid-Lipofuscinoses be tested through a different referral pathway? AR neuronal ceroid lipofuscinosis 5 - clinical course does include seizures - but not seen in all cases. Pineda-Trujillo et al, 2005 - consang Colombian family - 2 aff sibs both had seizures amogst other symptoms - hom mutation identified. Xin et al, 2010 -10/47 non-Finnish patients with NCL - 14 mutations in CLN5 - 11 novel, 12/20 premature termination of translation 2/10 had seizures. El Haddad et al, 2012 - hom truncating mutation in CLN5.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ceroid lipofuscinosis, neuronal, 5, 256731
Source Wessex and West Midlands GLH was added to CLN5.
Source NHS GMS was added to CLN5.
Sarah Leigh: Associated with phenotypes in
CLN5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
CLN5 was created by Sarah Leigh