List of diseases covered by Microcephaly NGS panel
Gene | Condition |
AP4M1 | Spastic paraplegia 50, autosomal recessive |
ASPM | Microcephaly 5, primary, autosomal recessive |
CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus |
CDK5RAP2 | Microcephaly 3, primary, autosomal recessive |
CENPJ | Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 |
CEP63 | Seckel syndrome 6 |
CEP135 | Microcephaly 8, primary, autosomal recessive |
CEP152 | Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type |
IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome |
KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
KNL1 | Microcephaly 4, primary, autosomal recessive |
MCPH1 | Microcephaly 1, primary, autosomal recessive |
NDE1 | Microhydranencephaly; Lissencephaly 4 (with microcephaly) |
NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
PAFAH1B1 | Lissencephaly 1 |
PCNT | Microcephalic osteodysplastic primordial dwarfism, type II |
PNKP | Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4 |
POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
SLC25A19 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 |
STIL | Microcephaly 7, primary, autosomal recessive |
TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |