Early onset or syndromic epilepsy
Gene: ASPA
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 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
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.
Associated with the relevant phenotype in OMIM, and epilepsy is part of the phenotypeCreated: 5 Jul 2018, 10:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Source Wessex and West Midlands GLH was added to ASPA.
Source NHS GMS was added to ASPA.
Arianna Tucci: Associated with the relevant p
Gene: aspa has been classified as Green List (High Evidence).
Phenotypes for gene: ASPA were set to Canavan disease 271900
Mode of inheritance for gene: ASPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: aspa has been classified as Green List (High Evidence).
Expert Review Amber was added to ASPA. Panel: Genetic Epilepsy Syndromes
ASPA was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ASPA was created by Sarah Leigh