Cerebellar hypoplasiaGene: EXOSC8
Only one report -mutations found in three families. Not listed on G2P. Not offered as diagnostic test on UKGTN
Created: 3 Nov 2016, 10:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
pontocerebellar hypoplasia type 1C 616081
22/02/2017: Panel revised after internal clinical review and further curation.
EXOSC8 was created by ellenmcdonagh
EXOSC8 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen