| Subtype | Gene (HGNC symbol) | Example pathogenic variants mentioned in evidence (HGVS c./p.) | Variant class | Molecular mechanism summary | Key pathway/process (with suggested GO terms) | Evidence type | Key citation |
|---|---|---|---|---|---|---|---|
| CAMRQ1 / VLDLR-associated dysequilibrium syndrome | VLDLR | c.1561G>C p.(Asp521His); c.1711_1712dupT p.(Tyr571Leufs*7) | Missense; frameshift | Biallelic VLDLR loss impairs receptor function in the Reelin pathway, disrupting neuronal migration and producing inferior cerebellar hypoplasia, small pons, and simplified gyration | Reelin signaling; neuronal migration; cerebellar development (GO:0001764 neuron migration, GO:0021549 cerebellum development, GO:0030335 positive regulation of cell migration) | Human case-series; neuroimaging; molecular genetics | (pqac-00000004, pqac-00000008, pqac-00000017) |
| CAMRQ1 / VLDLR-associated dysequilibrium syndrome | VLDLR | c.658_743del p.(Asp220Trpfs*6) | Frameshift | Predicted loss-of-function/truncation causing VLDLR deficiency; associated with classic DES plus broadened phenotype including varied locomotor patterns, truncal hypotonia, focal dystonia, and ocular telangiectasia in one large family | Reelin signaling; neuronal migration; synaptogenesis/synaptic plasticity (GO:0001764, GO:0048167 regulation of synaptic plasticity, GO:0050808 synapse organization) | Human family study / case-series | (pqac-00000007) |
| CAMRQ4 | ATP8A2 | c.1741C>T p.(Arg581*); c.2158C>T p.(Arg720*) | Nonsense; nonsense | Truncating ATP8A2 variants cause loss of a neuronal P4-ATPase phospholipid flippase required for membrane lipid asymmetry; linked to severe early-onset neuromotor disorder, sensory impairment, and profound developmental disability | Aminophospholipid translocation; membrane lipid asymmetry; neuron survival (GO:0140148 phospholipid transport, GO:0006869 lipid transport, GO:0048678 response to axon injury/neuronal maintenance related) | Human case report / family genetics | (pqac-00000010, pqac-00000025) |
| CAMRQ4 | ATP8A2 | p.(Leu538Pro) | Missense | Missense change in the nucleotide-binding/ATPase domain causing near-complete loss of protein expression, consistent with protein misfolding and ATPase loss-of-function; associated with ataxia, spasticity, nystagmus, and thin corpus callosum | Phospholipid translocation; protein folding quality control; vesicle trafficking (GO:0140148, GO:0006457 protein folding, GO:0016192 vesicle-mediated transport) | Human family study with functional interpretation | (pqac-00000014) |
| CAMRQ4 | ATP8A2 | p.(Gly447Arg); p.(Ala772Pro); p.(Glu459Gln); p.(Arg1147Trp) | Missense | Functional cell studies showed Gly447Arg and Ala772Pro are low-expression/mislocalized misfolding variants causing CAMRQ4; Glu459Gln had wild-type behavior and is likely non-causative; Arg1147Trp retained partial function and may confer a milder phenotype | Protein folding; Golgi/endosome localization; ATPase activity; membrane trafficking (GO:0006457, GO:0006886 intracellular protein transport, GO:0140148) | Functional cell assay / in vitro | (pqac-00000016) |
| CAMRQ3 | CA8 | c.232C>T p.(Arg78*) | Nonsense | Truncating CA8 variant is predicted to undergo nonsense-mediated decay, causing loss of carbonic anhydrase VIII/CARP8 function; model data support disrupted granule-cell proliferation and Purkinje-cell circuit patterning as the basis of ataxia | Cerebellar Purkinje cell development; regulation of intracellular calcium signaling; cerebellar circuit patterning (GO:0021549 cerebellum development, GO:0051480 regulation of cytosolic calcium ion concentration, GO:0061564 axon development/circuit organization related) | Human case report; model organism support (wdl mouse) | (pqac-00000021) |
| CAMRQ2 | WDR81 | c.2567C>T p.(Pro856Leu) | Missense | Homozygous WDR81 missense variant associated with CAMRQ2; human phenotype includes cerebellar ataxia, hypotonia, mild nystagmus, and cerebellar atrophy. Broader functional literature implicates WDR81 in neuronal development, endosomal maturation, and autophagic clearance of aggregates | Autophagy; endosome maturation; neuronal viability (GO:0006914 autophagy, GO:0006897 endocytosis, GO:0043524 negative regulation of neuron apoptotic process / cell viability related) | Human case report; supporting functional/model literature | (pqac-00000001, pqac-00000024) |


*Table: This table summarizes representative CAMRQ subtype genes, example pathogenic variants, and the main mechanistic themes supported by human and functional evidence. It is useful for linking subtype-specific variants to shared and distinct neurodevelopmental pathways relevant to diagnosis and interpretation.*