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