Cerebellar hypoplasiaGene: CA8
Only small numbers reported with CAMRQ. ?No MRI imaging so not known if associated with cerebellar hypoplasia as with other types of CAMRQ
Created: 16 Nov 2016, 10:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Amber List (Moderate Evidence).
CA8 was created by agardham
CA8 was added to Cerebellar hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen,Literature