Early onset or syndromic epilepsy

Gene: GALC

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: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR Krabbe disease - lysosomal disorder - most patients present with infantile/classic disease within first 6 months, approx 10-15% later onset. Tappino et al, 2010 - 2/21 patients with the infantile form had seizures. 3/4 patients with juvenille onset - no mention of seizures. Fiumara et al, 2011 - 9/26 had the inantile form - 4/9 had seizures. 17/26 late onset form - no mention of seizures. Bascou et al, 2018 35 patients - 10/32 symtomatic children had a history of clinical seizures, EEG results available for 18 patients - 11 were abnormal (1 of these was asymptom,atic at time of evaluation), genetic results available from 20 patients.

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
Krabbe disease, 245200

Publications

• 25260228

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association

Created: 21 Nov 2018, 5:47 p.m.

Comment on publications: Added publications to support upgrading of the gene to Green

Created: 21 Nov 2018, 5:39 p.m.

Comment on mode of inheritance: changed MOI from external clinical review and publications

Created: 21 Nov 2018, 4:29 p.m.

Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel

Created: 21 Nov 2018, 4:26 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.

Created: 14 Aug 2018, 12:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease, MIM#245200

Variants in this GENE are reported as part of current diagnostic practice