List of diseases covered by
Neurodegeneration with Brain Iron Accumulation
NGS panel
Gene | Condition |
ATP13A2 | Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive |
COASY | Neurodegeneration with brain iron accumulation 6 |
C19orf12 | Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive |
CP | Cerebellar ataxia |
DCAF17 | Woodhouse-Sakati syndrome |
FA2H | Spastic paraplegia 35, autosomal recessive |
FTL | Neurodegeneration with brain iron accumulation 3; Hyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive |
PANK2 | Neurodegeneration with brain iron accumulation 1; HARP syndrome |
PLA2G6 | Neurodegeneration with brain iron accumulation 2B; Infantile neuroaxonal dystrophy 1; Parkinson disease 14, autosomal recessive |
WDR45 | Neurodegeneration with brain iron accumulation 5 |