Cerebellar hypoplasiaGene: TSEN15
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
Pontocerebellar hypoplasia, type 2F 617026
Publications for gene: TSEN15 were set to 27392077
22/02/2017: Panel revised after internal clinical review and further curation.
TSEN15 was added to Cerebellar hypoplasiapanel. Sources: Literature
TSEN15 was created by agardham