List of diseases covered by
Autism Spectrum Disorders NGS panel

Gene Condition
ADNP Helsmoortel-van der Aa syndrome
ADSL Adenylosuccinase deficiency
ANKRD11 KBG syndrome
ARX Mental retardation,
X-linked 29 and others; Lissencephaly, X-linked 2;
Epileptic encephalopathy, early infantile, 1;
Partington syndrome; Proud syndrome
BCL11A Dias-Logan syndrome
BRAF Cardiofaciocutaneous syndrome;
LEOPARD syndrome 3; Noonan syndrome 7
CACNA1C Timothy syndrome
CC2D1A Mental retardation, autosomal recessive 3
CDKL5 Epileptic encephalopathy,
early infantile, 2
CHD2 Epileptic encephalopathy,
CHD7 CHARGE syndrome
CNOT3 Intellectual developmental disorder with speech delay,
autism, and dysmorphic facies
CNTNAP2 Autism susceptibility 15;
Pitt-Hopkins like syndrome 1
COL4A3BP Mental retardation, autosomal dominant 34
C12ORF4 Mental retardation, autosomal recessive 66
CREBBP Rubinstein-Taybi syndrome 1
CSNK2A1 Okur-Chung neurodevelopmental syndrome
DHCR7 Smith-Lemli-Opitz syndrome
EHMT1 Kleefstra syndrome 1
FBXO11 Intellectual developmental disorder
with dysmorphic facies and behavioral abnormalities
FOXG1 Rett syndrome, congenital variant
FOXP1 Mental retardation with
language impairment and with or without autistic features;
Epilepsy, childhood absence, susceptibility to, 5
FOXP2 Speech-language disorder-1
GABRB3 Epileptic encephalopathy,
early infantile, 43
HDAC8 Cornelia de Lange syndrome 5
HOXA1 Athabaskan brainstem
dysgenesis syndrome
HPRT1 Lesch-Nyhan syndrome;
HPRT-related gout
KMT5B Mental retardation, autosomal dominant 51
MAGEL2 Schaaf-Yang syndrome
MBOAT7 Mental retardation, autosomal recessive 57
MECP2 Mental retardation, X-linked syndromic,
Lubs type; Mental retardation, X-linked, syndromic 13;
Rett syndrome; Encephalopathy, neonatal severe
MED12 Lujan-Fryns syndrome;
Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome
MID1 Opitz GBBB syndrome, type I
NHS Nance-Horan syndrome
NIPBL Cornelia de Lange syndrome 1
NLGN3 Asperger syndrome susceptibility,
X-linked 1; Autism susceptibility, X-linked 1
NLGN4X Mental retardation, X-linked;
Asperger syndrome susceptibility, X-linked 2;
Autism susceptibility, X-linked 2
NRXN1 Pitt-Hopkins-like syndrome 2;
Schizophrenia, susceptibility to, 17
NSD1 Sotos syndrome 1
PCDH19 Epileptic encephalopathy,
early infantile, 9
PDE8B Striatal degeneration, autosomal dominant;
Pigmented nodular adrenocortical disease, primary, 3
POGZ White-Sutton syndrome
PTCHD1 Autism, susceptibility to, X-linked 4
PTEN Macrocephaly/autism syndrome;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
PTPN11 LEOPARD syndrome 1; Noonan syndrome 1
PQBP1 Renpenning syndrome
RAD21 Cornelia de Lange syndrome 4
RAI1 Smith-Magenis syndrome
RELN Lissencephaly 2;
Epilepsy, familial temporal lobe, 7
RPL10 Autism, susceptibility to, X-linked 5;
Mental retardation, X-linked, syndromic, 35
SCN1A Epilepsy, generalized,
with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6;
Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3
SCN2A Epileptic encephalopathy,
early infantile, 11; Seizures, benign familial infantile, 3
SETD2 Luscan-Lumish syndrome
SHANK2 Autism susceptibility 17
SHANK3 Phelan-McDermid syndrome;
Schizophrenia 15
SLC6A4 Anxiety-related personality traits;
Obsessive-compulsive disorder
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A9 Autism susceptibility 16
SMC3 Cornelia de Lange syndrome 3
SMC1A Cornelia de Lange syndrome 2
SNAP25 Myasthenic syndrome, congenital, 18
TBL1XR1 Mental retardation, autosomal dominant 41;
Pierpont syndrome
TBR1 Intellectual developmental disorder
with autism and speech delay
TCF4 Pitt-Hopkins syndrome
TCF20 Developmental delay with variable intellectual impairment
and behavioral abnormalities
TRIP12 Mental retardation, autosomal dominant 49
TSC1 Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
UBE3A Angelman syndrome
VPS13B Cohen syndrome
WASF1 Neurodevelopmental disorder with absent language
and variable seizures
ZEB2 Mowat-Wilson syndrome