Early onset or syndromic epilepsy

Gene: ASPA

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 Canavan disease - onset in early infancy of atonia of neck muscles, hypotonia, hyperextension of legs and felxion of arms, blindness, severe mental defect, megalocephaly and death often by 18 months. Feigelman et al, 1991 - 33 year old women with Canavan - generalised seizures at 8 years of age. Janson et al, 2006 - 2 sisters with a mild form of disease - both had seizures and compund het missense variants identified. Mendes et al, 3/11 patients had epilepsy.

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
Canavan disease, 271900

Publications

• 1643757

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 17 Jul 2018, 10:07 a.m.

Green List (high evidence)

Associated with the relevant phenotype in OMIM, and epilepsy is part of the phenotype

Created: 5 Jul 2018, 10:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Canavan disease 271900