Early onset or syndromic epilepsy
Gene: TSEN54
AR Pontocerebellar hypoplasia types 2A, 4 & 5. Epilepsy and seizures seem to be a feature of all of these.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
?Pontocerebellar hypoplasia type 5, 610204; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Publications
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
Comment on list classification: Updated rating from Amber to Green. Seizures are a clinical phenotype of both MIM:277470 and MIM:225753. Sufficient (>3) cases of seizures in Pontocerebellar hypoplasia patients with TSEN54 variants for inclusion on panel (PMIDs 20956791,7854532,26701950,20952379).Created: 3 Nov 2018, 11:17 a.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 7:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2A, MIM#277470
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TSEN54 were set to 20956791; 7854532; 26701950; 20952379
Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Source Wessex and West Midlands GLH was added to TSEN54.
Source NHS GMS was added to TSEN54.
Zornitza Stark: Seizures are part of the pheno
Gene: tsen54 has been classified as Green List (High Evidence).
Gene: tsen54 has been classified as Green List (High Evidence).
Publications for gene: TSEN54 were set to 20956791,7854532,26701950,20952379
Publications for gene: TSEN54 were set to
Mode of inheritance for gene: TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204
Expert Review Amber was added to TSEN54. Panel: Genetic Epilepsy Syndromes
TSEN54 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TSEN54 was created by Sarah Leigh