SH2B3 and cerebellar ataxia: These included: SH2B3 and Ataxin2 (ATXN2), associated with spinocerebellar ataxia 253 on chromosome 12; autophagy/beclin-1 regulator 1 (AMBRA1), important in autophagy and the development of the nervous system54 on chromosome 11; diacylglycerol kinase, zeta (DGKZ), involved in intracellular signalling,55 on chromosome 5; and neuron navigator 1 (NAV1), expressed in the nervous system and thought to have a role in neuronal development and regeneration,56 on chromosome 1.