Early onset or syndromic epilepsy
Gene: AMPD2
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 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
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 615809Created: 17 Jul 2018, 9:39 a.m.
Associated with the pontocerebellar hypoplasia,and epilepsy is part of the phenotypeCreated: 5 Jul 2018, 2:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 9 615809
Source Wessex and West Midlands GLH was added to AMPD2.
Source NHS GMS was added to AMPD2.
Arianna Tucci: Associated with the pontocereb
Gene: ampd2 has been classified as Green List (High Evidence).
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9 615809
Mode of inheritance for gene: AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to AMPD2. Panel: Genetic Epilepsy Syndromes
AMPD2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
AMPD2 was created by Sarah Leigh