Early onset or syndromic epilepsy
Gene: FUCA1
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: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR fucosidosis - lysosomal storage disease - clinical features include angiokeratoma, progressive psychomotor retardation, neurological signs, coarse facial features and dysostosis multiplex. Willems et al, 1999 - spectrum of mutations reported - no specific phenotypic information. In the Willems et al paper, 1991 - they review 77 patients - 38% had seizures. Saleh-Gohari et al, 2018 - girl born to consang parents - seizures during the neonatal period - hom fs variant. Panmontha et al, 2016 - Thai boy non-consang parents - two diff novel variants - 1 fs and 1 whole exon del.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
Fucosidosis, 230000
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 29 Nov 2018, 11:28 a.m.
Comment on publications: added publication to support gene-disease associationCreated: 29 Nov 2018, 11:26 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 28 Nov 2018, 5:30 p.m.
Comment on mode of inheritance: changed MOI from external clinical review and publicationsCreated: 28 Nov 2018, 5:29 p.m.
Seizures are part of this multi-system metabolic disorder.Created: 14 Aug 2018, 12:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fucosidosis, MIM#230000
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to FUCA1.
Source NHS GMS was added to FUCA1.
Zornitza Stark: Seizures are part of this mult
Gene: fuca1 has been classified as Green List (High Evidence).
Gene: fuca1 has been classified as Green List (High Evidence).
Publications for gene: FUCA1 were set to
Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000; seizures
Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to FUCA1. Panel: Genetic Epilepsy Syndromes
FUCA1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FUCA1 was created by Sarah Leigh