Cerebellar hypoplasiaGene: ATP8A2
Only reported in one family with CAMRQ and cerebellar atrophy. Recognised on G2P and on UKGTN hereditary ataxia panel
Created: 16 Nov 2016, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
22/02/2017: Panel revised after internal clinical review and further curation.
This gene has been classified as Amber List (Moderate Evidence).
ATP8A2 was added to Cerebellar hypoplasiapanel. Sources: Literature
ATP8A2 was created by agardham