Severe microcephalyGene: TSEN15
PMID 27392077 Reports four individuals from three families with PCH type 2 and different homozygous missense variants, all had progressive microcephaly (between -3SD and -9.7SD). Functional studies indicated that all variants resulted in almost complete lack of in vitro tRNA cleavage activity.
Sources: Expert list
Created: 4 Sep 2020, 10:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia, type 2F MIM#617026
Variants in this GENE are reported as part of current diagnostic practice
gene: TSEN15 was added gene: TSEN15 was added to Severe microcephaly. Sources: Expert list 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 MIM#617026 Review for gene: TSEN15 was set to GREEN gene: TSEN15 was marked as current diagnostic