Ataxia and cerebellar anomalies - narrow panelGene: TSEN15
Comment on list classification: Upgraded from Red to Amber - PMID:27392077 report on 2 families with PCH and biallelic variants in this gene (brain MRI was not available in third family). Additional cases required prior to inclusion as diagnostic-grade (added watchlist tag)
Created: 18 May 2021, 1:21 p.m. | Last Modified: 18 May 2021, 1:21 p.m.
Panel Version: 2.179
Disease confidence rating in DDG2P at time of re-review is still 'probable' for Pontocerebellar Hypoplasia and Progressive Microcephaly. PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families, however for family III, the authors were unable to access the patients to perform an MRI and therefore they could not confirm a PCH phenotype by medical imaging. Note that one of the individuals in family II reported by Breuss et al. (PMID:27392077) was previously included in a study by Alazami et al (PMID:25558065).
Created: 18 May 2021, 10:58 a.m. | Last Modified: 18 May 2021, 10:58 a.m.
Panel Version: 2.177
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia, type 2F, OMIM:617026
Tag watchlist tag was added to gene: 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, OMIM:617026
Rebecca Foulger: Comment on list classification
gene: TSEN15 was added gene: TSEN15 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F 617026