Early onset or syndromic epilepsy
Gene: FIG4
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
familial epilepsy with polymicrogyria reported as autsomal recessive, AR bilateral temporooccipital polymicrogyria (BTOP), AR CMT type 4J, AR Yunis Varon syndrome and AD ALS11. BTOP is the only one with an associated seizure disorder. Ouled Amar Ben Chiekh et al, 2009 & Baulac et al, 2014 - large consang Moroccan family - 6 individuals had a seizure disorder - all were a homogenous phentoype. Hom missense mutation identified - functional expression stidues indicate that the mutation caused a partial LOF.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
Phenotypes
Amyotrophic lateral sclerosis 11, 612577; Charcot-Marie-Tooth disease, type 4J, 611228; ?Polymicrogyria, bilateral temporooccipital, 612691; Yunis-Varon syndrome, 216340
Publications
Comment on list classification: Based on reviewers' comments.Created: 11 Dec 2018, 1:19 p.m.
One consanguineous family reported with bi-allelic variants in this gene and PMG/seizures.Created: 13 Aug 2018, 11:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral temporooccipital, MIM#612691
Publications
Source Wessex and West Midlands GLH was added to FIG4.
Source NHS GMS was added to FIG4.
Zornitza Stark: One consanguineous family repo
Gene: fig4 has been classified as Red List (Low Evidence).
Gene: fig4 has been classified as Red List (Low Evidence).
Expert Review Amber was added to FIG4. Panel: Genetic Epilepsy Syndromes
FIG4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FIG4 was created by Sarah Leigh