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 epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
Addendum B
Alphabetical Genes and Phenotypic Associations
Gene
Phenotype
ABCC8
Hyperinsulinemic hypoglycemia of infancy
ACY1
ADSL
Aminoacylase-1 deficiency
Codes a protein which functions in an electron-transferring membrane protein complex
in the
espiratory chain
Succinylpurinemic autism, psychomotor retardation, and , in some cases, growth
retardation
associated with muscle wasting and epilepsy
AGA
Aspartylglycosaminuria
AHI1
Joubert syndrome-related disorders
ALDH4A1
Type II hyperprolinemia
ADCK3
ALDH5A1
4-hydroxybutyricaciduria
ALDH7A1
Pyridoxine-dependent epilepsy
ALG1
Congenital disorder of glycosylation type Ik
ALG12
Congenital disorder of glycosylation type Ig
ALG2
Congenital disorder of glycosylation type Ih
ALG3
Congenital disorder of glycosylation type Id
ALG6
Congenital disorders of glycosylation type Ic
ALG8
Congenital disorder of glycosylation type Ih
ALG9
Congenital disorder of glycosylation type Il
AMT
Glycine encephalopathy
APTX
Ataxia-ocular apraxia
ARFGEF2
Periventricular hereotopia & Microephaly
ARG1
Argininemia
ARHGEF9
Startle disease with epilepsy (STHEE)
ARL13B
Joubert syndrome 8
ARSA
Metachromatic leucodystrophy (MLD
ARSB
Mucopolysaccharidosis type VI
ARX
X-linked mental retardation and epilepsy
ASPA
Canavan disease
ASPM
Microcephaly primary type 5
ATIC
AICA-ribosiduria
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Gene
Phenotype
ATP1A2
Familial basilar or hemiplegic migraines
ATP2A2
Darier-White disease
The encoded protein has been found associated with the transmembrane sector of the
V-type ATPases
ATP6AP2
ATP6V0A2
ATPAF2
ATR
Cutis laxa type II and wrinkly skin syndrome
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP
synthase
ATRX
Seckel syndrome
X-linked mental retardation (XLMR) syndrome most often accompanied by
alpha-thalassemia (ATRX) syndrome
B4GALT1
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes
BCS1L
Mitochondrial complex III deficiency and the GRACILE syndrome
BRAF
Cardiofaciocutaneous syndrome
BRD2
Juvenile myoclonic epilepsy
BTD
Multiple carboxylase deficiency
BUB1B
C12ORF65
Cancer
This nuclear gene encodes a mitochondrial matrix protein that appears to
contribute to peptide chain termination in the mitochondrial translation machinery
CACNA1A
Familial hemiplegic migraine and episodic ataxia 2
CACNA1H
Childhood absence epilepsy (CAE)
CACNB4
CASR
Idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME)
FG syndrome 4, mental retardation and microcephaly with pontine and
cerebellar hypoplasia, and a form of X-linked mental retardation
Familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism,
and neonatal severe primary hyperparathyroidism
CBL
Noonan syndrome-like disorder
CC2D2A
Meckel syndrome type 6, Joubert syndrome type 9
CCDC88C
CDKL5
Negative regulator of the canonical Wnt signaling pathway
The protein encoded by this gene binds to p25NCK5A and may be involved
in neuronal differentiation
X-linked infantile spasm syndrome (ISSX), X-linked West syndrome,
Rett syndrome (RTT)
CENPJ
Primary autosomal recessive microcephaly
CEP152
Primary microcephaly (MCPH4)
CEP290
Joubert syndrome and nephronophthisis
CHRNA2
Nocturnal frontal lobe epilepsy type 4
CHRNA4
Nocturnal frontal lobe epilepsy type 1
CHRNB2
Nocturnal frontal lobe epilepsy
CLCN2
CLCNKA
Epilepsies
This gene is thought to function in salt reabsorption in the kidney and potassium
recycling in the inner ear
CLCNKB
Bartter syndrome type 3 (BS3)
CLN3
Batten disease or neuronal ceroid lipofuscinoses (NCLs)
CASK
CDK5RAP2
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Gene
Phenotype
CLN5
Batten disease
CLN6
Batten disease
CLN8
COG1
Progressive epilepsy with mental retardation (EMPR)
Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and
mental retardation
The protein encoded by this gene is one of eight proteins (Cog1-8) which
form a Golgi-localized complex (COG) required for normal Golgi morphology and
function
COG7
Congenital disorder of glycosylation type IIe
COG8
Congenital disorder of glycosylation, type Iih
COL18A1
Knobloch syndrome
COL4A1
This gene encodes the major type IV alpha collagen chain of basement membranes
COQ2
Coenzyme Q10 deficiency, COQ2 nephropathy
COQ9
COX15
Coenzyme Q10 deficiency
CMT1A (Charcot-Marie-Tooth type 1A) duplication and HNPP
(hereditary neuropathy with liability to pressure palsies) deletion
This nuclear gene encodes a protein which is not a structural subunit,
but may be essential for the biogenesis of COX formation and may function in the
hydroxylation of heme O
CPT2
Mitochondrial long-chain fatty-acid (LCFA) oxidation disorders
CSTB
Progressive myoclonic epilepsy (EPM1)
CTSA
Galactosialidosis
CTSD
Breast cancer and possibly Alzheimer disease
The encoded protein forms a complex that functions as an E3 ubiquitin ligase
and catalyzes the polyubiquitination of specific protein substrates
Epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome)
in females and lissencephaly ("smooth brain" syndrome) in males
CNTNAP2
COX10
CUL4B
DCX
DLD
E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency
DOLK
Dolichol kinase deficiency
DPAGT1
DPM3
Congenital disorder of glycosylation type Ij
Serves as a donor of mannosyl residues on the lumenal side of the endoplasmic
reticulum
(ER
Serves as a donor of mannosyl residues on the lumenal side of the endoplasmic
reticulum
(ER
DPYD
Dihydropyrimidine dehydrogenase deficiency
EFHC1
Juvenile myoclonic epilepsy and juvenile absence epilepsy
EIF2B1
Leukoencephalopathy with vanishing white matter
EIF2B2
Leukoencephalopathy with vanishing white matter
EIF2B3
Leukoencephalopathy with vanishing white matter
EIF2B4
Leukoencephalopathy with vanishing white matter
EIF2B5
Leukoencephalopathy with vanishing white matter
EMX2
This gene encodes a homeobox-containing transcription factor
DPM1
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Gene
EOMES
Phenotype
T-box genes encode transcription factors involved in the regulation of developmental
processes
EPM2A
Myoclonic epilepsy of Lafora
ETFA
Type II glutaricaciduria
ETFB
Type II glutaricaciduria
ETFDH
Type II glutaricacidemia
FGD1
FGF8
Faciogenital dysplasia and X-linked mental retardation, syndromatic 16
This protein is known to be a factor that supports androgen and anchorage
independent growth
of mammary tumor cells
FGFR3
Craniosynostosis and multiple types of skeletal dysplasia
FH
Fumarase deficiency and l progressive encephalopathy
FKRP
FLNA
Congenital muscular dystrophy, mental retardation, and cerebellar cysts
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome
(WWS),
limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type
1X (CMD1X)
Periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes
(OPD1, OPD2),
frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked
congenital idiopathic intestinal pseudoobstruction (CIIPX)
FOLR1
Neurodegeneration due to cerebral folate transport deficiency
FOXG1
Rett syndrome
FUCA1
Fucosidosis (FUCA1D)
GABRA1
Juvenile myoclonic epilepsy and childhood absence epilepsy type 4
GABRB3
Angelman syndrome, Prader-Willi syndrome, and autism
GABRD
Generalized epilepsy with febrile seizures, type 5
GABRG2
Epilepsy and febrile seizures
GALC
Krabbe disease
GALNS
Morquio A syndrome
GAMT
Neurologic syndromes and muscular hypotonia
GATM
GCDH
Arginine:glycine amidinotransferase deficiency
The product of this gene catalyzes the oxidative decarboxylation of glutaryl-CoA to
crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and
L-tryptophan metabolism
GCSH
Nonketotic hyperglycinemia (NKH)
GFAP
Alexander disease
GLB1
GM1-gangliosidosis and Morquio B syndrome
GLDC
Nonketotic hyperglycinemia (NKH)
FKTN
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Gene
GLI3
Phenotype
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly
type IV,
postaxial polydactyly types A1 and B
Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly
type IV,
and postaxial polydactyly types A1 and B
GLRA1
Startle disease (STHE)
GLRB
Startle disease
GNE
Sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy
GNPTAB
Mucolipidosis II and mucolipidosis IIIA
GNPTG
Mucolipidosis IIIC
GNS
Mucopolysaccharidosis type IIID (Sanfilippo D syndrome)
GPC3
Simpson-Golabi-Behmel syndrome
GPHN
Hyperplexia and molybdenum cofactor deficiency
GPR56
Bilateral frontoparietal polymicrogyria
GPR98
GRIA3
Usher syndrome 2 and familial febrile seizures
The subunit encoded by this gene belongs to a family of AMPA
(alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate
receptors
GRIN2A
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors
GRIN2B
N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors
GUSB
Mucopolysaccharidosis type VII
HEXA
Tay-Sachs disease (GM2-gangliosidosis type I)
HEXB
Sandhoff disease (GM2-gangliosidosis type II)
HGSNAT
Sanfilippo syndrome C
HPD
Tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK)
HRAS
Costello syndrome
HSD17B10
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD)
HYAL1
Mucopolysaccharidosis type IX, or hyaluronidase deficiency
IDS
Mucopolysaccharidosis Type II, also known as Hunter Syndrome
IDUA
Mucopolysaccharidosis type I (MPS I)
GLI2
INPP5E
Joubert syndrome
KAT6B
Genitopatellar syndrome
KCNA1
Myokymia with periodic ataxia (AEMK)
KCNJ1
Antenatal Bartter syndrome
KCNJ10
Seizure susceptibility of common idiopathic generalized epilepsy syndromes
KCNMA1
KCNQ3
Generalized epilepsy and paroxysmal dyskinesia
Benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy,
benign neonatal type 1 (EBN1)
Benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy,
benign neonatal type 2 (EBN2)
KCTD7
Progressive myoclonic epilepsy-3
KCNQ2
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Gene
Phenotype
KDM5C
X-linked mental retardation
KIAA1279
Goldberg-Shprintzen megacolon syndrome
KRAS
Encodes a protein that is a member of the small GTPase superfamily
L2HGDH
L-2-hydroxyglutaric aciduria
LAMA2
Congenital merosin-deficient muscular dystrophy
LARGE
MDC1D
LBR
HEM/Greenberg skeletal dysplasia
LGI1
Lateral temporal epilepsy
LIG4
LIG4 syndrome
LRPPRC
MAP2K1
French-Canadian Leigh syndrome
This kinase is involved in many cellular processes such as proliferation, differentiation,
transcription regulation and development
MAP2K2
Cardiofaciocutaneous syndrome (CFC syndrome)
MAPK10
This kinase plays regulatory roles in the signaling pathways during neuronal apoptosis
MBD5
Mental retardation autosomal dominant type 1
MCOLN1
MCPH1
Mucolipidosis type IV
Primary autosomal recessive microcephaly 1 and premature chromosome condensation
syndrome
ME2
Increased the for idiopathic generalized epilepsy
MECP2
MED17
Rett syndrome
The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1
activation)
complex, which, along with TFIID, is required for efficient activation by SP1
MFSD8
Variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL)
MGAT2
Carbohydrate-deficient glycoprotein syndrome, type II
MLC1
Megalencephalic leukoencephalopathy with subcortical cysts
MLL2
Kabuki syndrome
MOCS1
Molybdenum cofactor deficiency, type A
MOCS2
Molybdenum
MOGS
Type IIb congenital disorder of glycosylation (CDGIIb)
MPDU1
Congenital disorder of glycosylation type If
MPI
Carbohydrate-deficient glycoprotein syndrome, type Ib
NAGLU
Mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B
NDUFA2
Leigh syndrome,
NDUFAF6
Leigh syndrome
NDUFS1
Leigh syndrome
NDUFS3
Leigh syndrome
NDUFS4
Leigh syndrome
NDUFS7
Leigh syndrome
NDUFS8
Leigh syndrome
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Gene
Phenotype
NDUFV1
Leigh syndrome
NEU1
Sialidosis
NF1
Neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome
NHEJ1
Severe combined immunodeficiency disorders
NHLRC1
Lafora disease or progressive myoclonic epilepsy type 2 (EPM2)
NIPBL
NOTCH3
Cornelia de Lange syndrome
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy
(CADASIL)
NPC1
Niemann-Pick type C disease
NPC2
NRXN1
Niemann-Pick disease, type C2 and frontal lobe atrophy
Familial juvenile nephronophthisis type 1, Senior-Loken syndrome type 1, Joubert
syndrome type 4
Somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative
syndrome,
Noonan syndrome, and juvenile myelomonocytic leukemia
Neurexins function in the vertebrate nervous system as cell adhesion molecules and
receptors
OFD1
Oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2
OPHN1
X-linked mental retardation
PAFAH1B1
Miller-Dieker lissencephaly syndrome
PAK3
Non-syndromic mental retardation X-linked type 30 (MRX30)
PANK2
HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN)
PAX6
Ocular disorders such as aniridia and Peter's anomaly
PC
Pyruvate carboxylase deficiency
PCDH19
Epilepsy female-restricted with mental retardation (EFMR)
PCNT
Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II
PDHA1
Pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome
PDSS1
Coenzyme Q10 deficiency
PDSS2
PEX1
Coenzyme Q10 deficiency
Complementation group 1 peroxisomal disorders such as neonatal
adrenoleukodystrophy,
infantile Refsum disease, and Zellweger syndrome
PEX12
Zellweger syndrome (ZWS)
PEX14
Zellweger syndrome
PEX2
Zellweger syndrome and infantile Refsum disease
Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum
disease (IRD),
and classical rhizomelic chondrodysplasia punctata (RCDP)
NPHP1
NRAS
PEX26
PEX3
PEX5
PEX6
Zellweger syndrome (ZWS)
Neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS)
as well as may be a cause of infantile Refsum disease (IRD)
Peroxisome biogenesis disorders of complementation group 4 and complementation
group 6
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Gene
PGK1
Phenotype
PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia
punctata type 1
(RCDP1), and Refsum disease (RD)
The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion
of
1,3-diphosphoglycerate to 3-phosphoglycerate
PHF6
Borjeson-Forssman-Lehmann syndrome (BFLS)
PIGV
Hyperphosphatasia mental retardation syndrome
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that
catalyzes
the release of fatty acids from phospholipids
PEX7
PLA2G6
PLP1
X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2
PMM2
Carbohydrate-deficient glycoprotein syndrome type I
PNKP
Microcephaly, seizures, and developmental delay
PNPO
Pyridoxamine 5'-phosphate oxidase (PNPO) deficiency
Progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1),
sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO),
Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal
encephalopathy syndrome (MNGIE)
POLG
POMGNT1
POMT1
POMT2
Muscle-eye-brain (MEB) disease
Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K
(LGMD2K)
PPT1
Walker-Warburg syndrome (WWS)
Infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid
lipofuscinosis 4 (CLN4)
PQBP1
Renpenning syndrome 1 and other syndromes with X-linked mental retardation
PRICKLE1
Progressive myoclonus epilepsy
PRICKLE2
Progressive myoclonic epilepsy type 5
PRODH
Hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4)
PSAP
PTCH1
Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy
Basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas,
transitional cell carcinomas of the bladder, and holoprosencephaly
PTPN11
Noonan syndrome and acute myeloid leukemia
QDPR
Atypical phenylketonuria
RAB39B
Rab proteins are small GTPases that are involved in vesicular trafficking
RAB3GAP
Warburg micro syndrome
RAF1
Noonan syndrome 5 and LEOPARD syndrome 2
RAI1
Severity of the phenotype and the response to medication in schizophrenic patients
RARS2
Pontocerebellar hypoplasia type 6 (PCH6)
RBFOX1
Spinocerebellar ataxia type 2 (SCA2)
RELN
Autosomal recessive lissencephaly with cerebellar hypoplasia
RNASEH2A
RNASEH2B
Aicardi-Goutieres Syndrome (AGS)
Aicardi-Goutieres syndrome type 2 (AGS2)
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Gene
Phenotype
RNASEH2C
Aicardi-Goutieres syndrome-3
RPGRIP1L
Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5)
RTF1
Congenital disorder of glycosylation type In
SAMHD1
Aicardi-Goutieres syndrome
SCARB2
Autosomal recessive progressive myoclonic epilepsy-4 (EPM4)
SCN1A
SCN1B
Several epilepsy, convulsion and migraine disorders
Generalized epilepsy with febrile seizure, Brugada syndrome 5, and defects in cardiac
conduction
SCN2A
Several seizure disorders
SCN8A
SCN9A
Mental retardation, pancerebellar atrophy and ataxia
Primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal
extreme pain disorder
SCO2
Fatal infantile encephalocardiomyopathy
SDHA
Leigh Syndrome
SERPINI1
Familial encephalopathy with neuroserpin inclusion bodies (FENIB)
SETBP1
Schinzel-Giedion midface retraction syndrome
SGSH
SHH
SHOC2
Sanfilippo syndrome A
Holoprosencephaly (HPE)
Noonan-like syndrome with loose anagen hair
SIX3
Holoprosencephaly type 2
SLC17A5
Sialic acid storage diseases
SLC25A15
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
SLC25A19
Microcephaly, Amish type
SLC25A22
Early infantile epileptic encephalopathy
SLC2A1
Paroxysmal exertion-induced dyskinesia
SLC35A1
Congenital disorder of glycosylation type 2F (CDG2F)
SLC35C1
Congenital disorder of glycosylation type IIc
SLC46A1
SLC4A10
Autosomal recessive hereditary folate malabsorption (HFM) disease
The protein encoded by this gene was initially identified as a sodium-driven chloride
bicarbonate exchanger (NCBE) though there is now evidence that its
sodium/bicarbonate
cotransport activity is independent of any chloride ion countertransport under
physiological conditions
SLC6A5
Hyperekplexia
SLC9A6
X-linked syndromic mental retardation, Christianson type
SMC1A
SMC3
The encoded protein is thought to be an important part of functional kinetochores
A component of the multimeric cohesin complex that holds together sister chromatids
during mitosis, enabling proper chromosome segregation
SMPD1
Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB)
SMS
X-linked Snyder-Robinson mental retardation syndrome
SNAP29
Encodes a protein involved in multiple membrane trafficking steps
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Gene
Phenotype
SOS1
Gingival fibromatosis 1 and Noonan syndrome type 4
SPRED1
Neurofibromatosis type 1-like syndrome (NFLS)
SPTAN1
STIL
Early infantile epileptic encephalopathy-5
Bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental
retardation
This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle
checkpoint
STXBP1
Infantile epileptic encephalopathy-4
SUMF1
Multiple sulfatase deficiency, a lysosomal storage disorder
SUOX
Sulfite oxidase deficiency
SURF1
Leigh syndrome
SYN1
X-linked disorders with primary neuronal degeneration such as Rett syndrome
SYNGAP1
Mmental retardation autosomal dominant type 5
SYP
X-linked mental retardation (XLMR)
TACO1
Leigh syndrome
TBC1D24
TBX1
Familial infantile myoclonic epilepsy
T-box genes encode transcription factors involved in the regulation of developmental
processes
TCF4
Pitt-Hopkins syndrome
TGIF1
Holoprosencephaly type 4
TMEM216
Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2
TMEM67
Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6)
TMEM70
Neonatal mitochondrial encephalocardiomyopathy
TPP1
TREX1
Late-infantile neuronal ceroid lipofuscinosis
Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases
of the immune system
TSC1
Tuberous sclerosis
TSC2
Tuberous sclerosis complex
TSEN2
Pontocerebellar hypoplasia type 2
TSEN34
Pontocerebellar hypoplasia type 2
TSEN54
Pontocerebellar hypoplasia type 2[
TUBA1A
Lissencephaly type 3 (LIS3)
TUBA8
Polymicrogyria and optic nerve hypoplasia
TUBB2B
Asymmetric polymicrogyria
UBE3A
VDAC1
Angelman Syndrome
The encoded protein facilitates the exchange of metabolites and ions across the outer
mitochondrial membrane and may regulate mitochondrial functions
VPS13A
Cohen syndrome
VPS13B
Cohen syndrome
This gene encodes a member of the vaccinia-related kinase (VRK) family of
serine/threonine
protein kinases
SRPX2
VRK1
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Gene
Phenotype
WDR62
Microencephaly, cortical malformations, and mental retardation
ZEB2
Hirschsprung disease/Mowat-Wilson syndrome
ZIC2
Holoprosencephaly type 5
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