Early onset or syndromic epilepsy

Gene: AMPD2

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 pontocerebellar hypoplasia type 9 - characterised by severely delayed psychomotor development , progressive microcephaly, spasticity, seizures and brain abnormalities. Akizu et al, 2013 - 8 patients from 5 families with pontocerebllar hypoplasia - most patients diaginsed at birth or in first year of life. All except 2 had seizures.5 diff hom mut detected - functional studies done. Marsh et al, 2015 - 5 sibs born of consang parents of Middle Eastern descent - additionl features incl early-onset seizures. Hom truncating mutation. W blot analysis showed complete absence of protein.

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
?Spastic paraplegia 63 615686; Pontocerebellar hypoplasia, 615809

Publications

• 28815207
• 23911318

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

Created: 17 Jul 2018, 9:39 a.m.

Comment on phenotypes: Pontocerebellar hypoplasia, type 9 615809

Created: 17 Jul 2018, 9:39 a.m.

Green List (high evidence)

Associated with the pontocerebellar hypoplasia,and epilepsy is part of the phenotype

Created: 5 Jul 2018, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 9 615809