Early onset or syndromic epilepsy
Gene: TSEN15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2F, 617026
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.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: Kept rating as Amber: Although Zornitza correctly notes that seizures are amongst the phenotypes of MIM:617026, there are currently insufficient published cases to support a Green rating: PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families with ID and progressive microcephaly. Epilepsy is reported in 2 of the 4 cases (families I and II) only. Added 'watchlist' tag.Created: 14 May 2019, 3:07 p.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 7:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2F, MIM#617026
Variants in this GENE are reported as part of current diagnostic practice
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 homozygous variants reported in 3 unrelated cases, of which 2 display seizures.Created: 31 Jul 2018, 4:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2F 617026
Publications
Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F, 617026; seizures to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Source Wessex and West Midlands GLH was added to TSEN15.
Source NHS GMS was added to TSEN15.
Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F 617026 to Pontocerebellar hypoplasia, type 2F, 617026; seizures
Sarah Leigh: Associated with relevant pheno
Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Gene: tsen15 has been classified as Amber List (Moderate Evidence).
TSEN15 was added to Genetic Epilepsy Syndromes panel. Sources: Literature
TSEN15 was created by Sarah Leigh