List of diseases covered by Microcephaly NGS panel

Gene Condition
ANKLE2 Microcephaly 16, primary
AP4M1 Spastic paraplegia 50, autosomal recessive
ASNS Asparagine synthetase deficiency
ASPM Microcephaly 5, primary, autosomal recessive
ATR Seckel syndrome 1;
Cutaneous telangiectasia and cancer syndrome,
CASK Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CDC45 Meier-Gorlin syndrome 7
CDC6 Meier-Gorlin syndrome 5
CDK6 Microcephaly 12, primary
CDK5RAP2 Microcephaly 3, primary, autosomal recessive
CDT1 Meier-Gorlin syndrome 4
CENPE Microcephaly 13, primary
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
CHD7 CHARGE syndrome;
Hypogonadotropic hypogonadism 5 with or without anosmia
CIT Microcephaly 17, primary
COPB1 Microcephaly 19, primary
CREBBP Rubinstein-Taybi syndrome 1; Menke-Hennekam syndrome 1
CTNNA2 Cortical dysplasia, complex, with other brain malformations 9
DHCR7 Smith-Lemli-Opitz syndrome
DHTKD1 2-aminoadipic 2-oxoadipic aciduria
DNA2 Seckel syndrome 8; Progressive external ophthalmoplegia
with mitochondrial DNA deletions, autosomal dominant 6
DONSON Microcephaly-micromelia syndrome;
Microcephaly, short stature, and limb abnormalities
DYRK1A Mental retardation, 7
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type
EP300 Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2
ERCC6 Cerebrooculofacioskeletal syndrome 1;
Cockayne syndrome, type B; De Sanctis-Cacchione syndrome
EXOSC3 Pontocerebellar hypoplasia, type 1B
FBXO11 Intellectual developmental disorder
with dysmorphic facies and behavioral abnormalities
GMNN Meier-Gorlin syndrome 6
GSX2 Diencephalic-mesencephalic junction dysplasia syndrome 2
HDAC8 Cornelia de Lange syndrome 5;
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
KIF11 Microcephaly with or without chorioretinopathy, lymphedema,
or mental retardation
KIF14 Microcephaly 20, primary
KIF2A Cortical dysplasia, complex, with other brain malformations 3
KIFBP Goldberg-Shprintzen megacolon syndrome
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KMT2A Wiedemann-Steiner syndrome
KNL1 Microcephaly 4, primary, autosomal recessive
LAGE3 Galloway-Mowat syndrome 2
MCM5 Meier-Gorlin syndrome 8
MCPH1 Microcephaly 1, primary, autosomal recessive
MFSD2A Neurodevelopmental disorder with progressive microcephaly,
spasticity, and brain imaging abnormalities
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NCAPD2 Microcephaly 21, primary
NCAPD3 Microcephaly 22, primary
NCAPH Microcephaly 23, primary
NDE1 Microhydranencephaly; Lissencephaly 4 (with microcephaly)
NHEJ1 Severe combined immunodeficiency with microcephaly,
growth retardation, and sensitivity to ionizing radiation
NIN Seckel syndrome 7
NSMCE2 Seckel syndrome 10
NUP107 Galloway-Mowat syndrome 7
NUP133 Galloway-Mowat syndrome 8
NUP37 Microcephaly 24, primary
ORC1 Meier-Gorlin syndrome 1
ORC4 Meier-Gorlin syndrome 2
ORC6 Meier-Gorlin syndrome 3
OSGEP Galloway-Mowat syndrome 3
PAFAH1B1 Lissencephaly 1
PCDH12 Diencephalic-mesencephalic junction dysplasia syndrome 1
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
PHC1 Microcephaly 11, primary
PHGDH Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency
PLK4 Microcephaly and chorioretinopathy, 2
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
PSAT1 Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2
PSPH Phosphoserine phosphatase deficiency
RBBP8 Jawad syndrome; Seckel syndrome 2
RTTN Microcephaly, short stature, and polymicrogyria with seizures
SASS6 Microcephaly 14, primary
SLC25A19 Microcephaly, Amish type;
Thiamine metabolism dysfunction syndrome 4
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
STAMBP Microcephaly-capillary malformation syndrome
STIL Microcephaly 7, primary, autosomal recessive
ZEB2 Mowat-Wilson syndrome
ZNF335 Microcephaly 10, primary
TP53RK Galloway-Mowat syndrome 4
TPRKB Galloway-Mowat syndrome 5
TRAIP Seckel syndrome 9
TRAPPC9 Mental retardation, 13
TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1
TUBA8 Cortical dysplasia, complex, with other brain malformations 8
TUBB Cortical dysplasia, complex, with other brain malformations 6;
Symmetric circumferential skin creases, congenital, 1
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TUBB2B Cortical dysplasia, complex, with other brain malformations 7
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP4 Microcephaly and chorioretinopathy, 3
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1
WDFY3 Microcephaly 18, primary
WDR4 Galloway-Mowat syndrome 6
WDR62 Microcephaly 2, primary, autosomal recessive,
with or without cortical malformations
WDR73 Galloway-Mowat syndrome 1
(spinocerebellar ataxia, autosomal recessive 5)
XRCC4 Short stature, microcephaly, and endocrine dysfunction