Cerebellar hypoplasia

Gene: 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.

Created: 18 May 2021, 1:22 p.m. | Last Modified: 18 May 2021, 1:22 p.m.

Panel Version: 1.45

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: 16 May 2019, 9:21 a.m.

Only reported in three families. Probable DD gene on G2P

Created: 3 Nov 2016, 11:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F 617026

Publications

• 27392077