number of of condition inheritance

Transcription

1 OMIM standard name of condition (please provide the conditions that the test is for which may NOT necssarily be the condition that is linked to the gene on OMIM) OMIM symbol of condition OMIM Mode number of of condition inheritance HGNC standard name of gene HGNC symbol of the gene Adenylosuccinase deficiency. not listed AR adenylosuccinate lyase ADSL Epilepsy, pyridoxine dependent EPD AR aldehyde dehydrogenase 7 family member A1 ALDH7A1 Glycine encephalopathy, GCE AR aminomethyltransferase AMT Periventricular heterotopia with microcephaly ARPHM AR ADP ribosylation factor guanine nucleotide exchange factor 2 ARFGEF2 Epileptic encephalopathy, early infantile, 8, EIEE XLR Cdc42 guanine nucleotide exchange factor 9 ARHGEF9 Epileptic encephalopathy, early infantile, 1, EIEE XLR Lissencephaly, X linked 2, LISX X-linked Mental retardation, X linked 29 and others, MRXARX X-linked Proud syndrome, X-linked Partington syndrome, PRTS XLR Hydranencephaly with abnormal genitalia, LISX X-linked Migraine, familial hemiplegic, 2, FHM AD Alternating hemiplegia of childhood AHC AD Migraine, familial basilar FHM AD Mental retardation, X linked, with epilepsy MRXSH XLR ATPase, H+ transporting, lysosomal accessory protein 2 ATP6AP2 Migraine, familial hemiplegic, 1, FHM AD aristaless related homeobox ATPase, Na+/K+ transporting, alpha 2 polypeptide ARX ATP1A2 Episodic ataxia, type 2, EA AD Spinocerebellar ataxia 6, SCA AD Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, FHM AD calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A Epilepsy, idiopathic generalized, susceptibility t EIG AD alcium channel, voltage-dependent, beta 4 subunit CACNB4 Epileptic encephalopathy, early infantile, 2, EIEE XLD cyclin dependent kinase like 5 CDKL5 Epileptic encephalopathy, childhood-onset EEOC AD chromodomain helicase DNA binding protein 2 CHD2 Epilepsy, nocturnal frontal lobe, type 4 ENFL AD cholinergic receptor, nicotinic alpha 2 CHRNA2 Epilepsy, nocturnal frontal lobe, 1 ENFL AD cholinergic receptor, nicotinic alpha 4 CHRNA4

2 Epilepsy, nocturnal frontal lobe, 3 ENFL AD cholinergic receptor, nicotinic beta 2 CHRNB2 Ceroid lipofuscinosis, neuronal, 3, CLN AR ceroid-lipofuscinosis, neuronal 3 CLN3 Ceroid lipofuscinosis, neuronal, 5, CLN AR ceroid-lipofuscinosis, neuronal 5 CLN5 Ceroid lipofuscinosis, neuronal, 6, CLN AR Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, CLN4A AR Ceroid lipofuscinosis, neuronal, 8, CLN AR Ceroid lipofuscinosis, neuronal, 8, rthern epilepsy variant, not listed AR Cortical dysplasia focal epilepsy syndrome, CDFES AR Pitt Hopkins like syndrome 1 CDFES AR Epilepsy, familial temporal lobe, 5, ETL AD Febrile seizures, familial, 11, Feb AR ceroid-lipofuscinosis, neuronal 6, late infantile, variant ceroid-lipofuscinosis, neuronal 8 contactin associated protein-like 2 carboxypeptidase A6 CLN6 CLN8 CNTNAP2 CPA6 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), not listed AR cystatin B CSTB Ceroid lipofuscinosis, neuronal, 10, CLN AR cathepsin D CTSD Ceroid lipofuscinosis, neuronal, 13, Kufs type, CLN AR cathepsin F CTSF Mental retardation, X linked, syndromic 15 (Cabezas type) MRXSC XLR cullin 4B CUL4B Lissencephaly, X linked, LISX X-linked doublecortin DCX Mental retardation, autosomal dominant 7, MRD AD {Epilepsy, juvenile absence, susceptibility to, 1} EJA AD {Myoclonic epilepsy, juvenile, susceptibility to, 1} EJM AD Epilepsy, progressive myoclonic 2A (Lafora), not listed AR Cardiac valvular dysplasia, X-linked CVD XLR Congenital short bowel syndrome not listed XLR FG syndrome 2 FGS XLR Frontometaphyseal dysplasia FMD XLR Heterotopia, periventricular PVNH XLR Intestinal pseudoobstruction, neuronal not listed XLR Melnick-Needles syndrome MNS XLR Otopalatodigital syndrome, type I OPD XLR Otopalatodigital syndrome, type II OPD XLR dual specificity tyrosine-(y)-phosphorylation regulated kinase 1A EF-hand domain (C-terminal) containing 1 epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) filamin A DYRK1A EFHC1 EPM2A FLNA

3 Terminal osseous dysplasia TOD XLR Neurodegeneration due to cerebral folate transport deficiency, not listed AR folate receptor 1 (adult) FOLR1 Rett syndrome, congenital variant not listed AD forkhead box G1 FOXG1 Epileptic encephalopathy, early infantile, 19 EIEE AD Epilepsy, childhood absence, susceptibility to, 4 EIG AD Epilepsy, generalized, with febrile seizures plus, type 3 GEFSP AD {Epilepsy, childhood absence, susceptibility to, 2} ECA AD gamma-aminobutyric acid (GABA) A receptor, alpha 1 gamma-aminobutyric acid (GABA) A receptor, gamma 2 GABRA1 GABRG2 Cerebral creatine deficiency syndrome 2 CCDS AR guanidinoacetate N-methyltransferase GAMT Glycine encephalopathy GCE AR glycine cleavage system protein H (aminomethyl carrier) GCSH Glycine encephalopathy GCE AR glycine dehydrogenase (decarboxylating) GLDC Hyperekplexia, hereditary 1, autosomal dominant or recessive HKPX AD / AR glycine receptor alpha 1 GLRA1 Hyperekplexia 2, autosomal recessive HKPX AR glycine receptor beta GLRB Hyperinsulinism-hyperammonemia syndrome HHF AD glutamate dehydrogenase 1 GLUD1 Polymicrogyria, bilateral frontoparietal BFPP AR Polymicrogyria, bilateral perisylvian BPPR AR Febrile seizures, familial, 4 FEB AD Usher syndrome, type 2C USH2C AR / digenic adhesion G protein-coupled receptor G1 adhesion G protein-coupled receptor V1 ADGRG1 ADGRV1 Epilepsy with neurodevelopmental defects, FESD AD glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2A Epileptic encephalopathy, early infantile, 27 EIEE AD glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIN2B Episodic ataxia/myokymia syndrome EA AD potassium channel, voltage gated shaker related subfamily A, member 1 Enlarged vestibular aqueduct, digenic DFNB AR SESAME syndrome SESAMES AR Generalized epilepsy and paroxysmal dyskinesia GEPD AD Epileptic encephalopathy, early infantile, 7 EIEE AD Seizures, benign neonatal, type 2 BFNS AD Epilespsy, nocturnal forntal lobe, 5 ENFL AD potassium channel, inwardly rectifying subfamily J, member 10 potassium channel, calcium activated large conductance subfamily M alpha, member 1 potassium channel, voltage gated KQT-like subfamily Q, member 2 potassium channel, voltage gated KQT-like subfamily Q, member 3 potassium channel, sodium activated subfamily T, member 1 KCNA1 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1

4 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions EPM AR potassium channel tetramerization domain containing 7 KCTD7 Epilepsy, familial temporal lobe, 1 ETL AD leucine-rich, glioma inactivated 1 LGI1 Mental retardation, autosomal dominant 1 MRD AD methyl-cpg binding domain protein 5 MBD5 Microcephaly 1, primary, autosomal recessive MCPH AR microcephalin 1 MCPH1 Encephalopathy, neonatal severe Mental retardation, X-linked syndromic, Lubs type MRXSL XLR Mental retardation, X-linked, syndromic 13 MRXS XLR Rett syndrome RTT XLR Rett syndrome, preserved speech variant RTT XLR {Autism susceptibility, X-linked 3} AUTSX XLR Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MRD AD myocyte enhancer factor 2C MEF2C Ceroid lipofuscinosis, neuronal, 7 CLN AR major facilitator superfamily domain containing 8 MFSD8 Molybdenum cofactor deficiency A MOCODA AR molybdenum cofactor synthesis 1 MOCS1 Molybdenum cofactor deficiency B MOCODB AR molybdenum cofactor synthesis 2 MOCS2 Epilepsy, progressive myoclonic 2B (Lafora) not listed AR NHL repeat containing E3 ubiquitin protein ligase 1 NHLRC1 Pitt-Hopkins-like syndrome 2 PTHSL AR neurexin 1 NRXN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Lissencephaly 1 LIS AD not listed XLR oligophrenin 1 OPHN1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 PAFAH1B1 Epileptic encephalopathy, early infantile, 9 EIEE X-linked protocadherin 19 PCDH19 Microcephalic osteodysplastic primordial dwarfism, type II MOPD AR pericentrin PCNT Borjeson-Forssman-Lehmann syndrome BFLS XLR PHD finger protein 6 PHF6 Epileptic encephalopathy, early infantile, 12 EIEE AR phospholipase C beta 1 PLCB1 Microcephaly, seizures, and developmental delay Pyridoxamine 5'-phosphate oxidase deficiency not listed AR pyridoxamine 5'-phosphate oxidase PNPO Mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A AR Mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B AR Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) notlisted MCSZ SANDO AR Progressive external ophthalmoplegia, autosomal dominant PEOA AD XLR AR methyl-cpg binding protein 2 polynucleotide kinase 3'-phosphatase polymerase (DNA directed), gamma MECP2 PNKP POLG

5 Progressive external ophthalmoplegia, autosomal recessive PEOB AR Ceroid lipofuscinosis, neuronal, 1 CLN AR palmitoyl-protein thioesterase 1 PPT1 Epilepsy, progressive myoclonic 1B EPM1B AR prickle planar cell polarity protein 1 PRICKLE1 Seizures, benign familial infantil BFIS AD proline-rich transmembrane protein 2 PRRT2 Basal cell carcinoma, somatic BCC somatic Basal cell nevus syndrome BCNS AD patched 1 PTCH1 Holoprosencephaly-7 HPE AD Lissencephaly 2 (rman-roberts type) LIS AR reelin RELN Epilepsy, progressive myoclonic 4, with or without renal failure EPM AR scavenger receptor class B member 2 SCARB2 Dravet syndrome EIEE AD Epilepsy, generalized, with febrile seizures plus, type 2 GEFSP AD Febrile seizures, familial, 3A GEFSP2 AD Migraine, familial hemiplegic, 3 FHM AD Atrial fibrillation, familial, 13 ATFB AD Brugada syndrome 5 BRGDA AD Cardiac conduction defect, nonspecific BRGDA5 AD Epilepsy, generalized, with febrile seizures plus, type 1 GEFSP AD Epileptic encephalopathy, early infantile, 11 EIEE AD Seizures, benign familial infantile, 3 BFIS AD sodium channel, voltage gated, type I alpha subunit sodium channel, voltage gated, type I beta subunit sodium channel, voltage gated, type II alpha subunit SCN1A SCN1B SCN2A Focal epilepsy not listed t listed AD sodium channel, voltage gated, type III alpha subunit SCN3A Cognitive impairment with or without cerebellar ataxia CIAT AD Epileptic encephalopathy, early infantile, 13 EIEE AD Epilepsy, generalized, with febrile seizures plus, type 7 GEFSP AD Erythermalgia, primary not listed AD Febrile seizures, familial, 3B GEFSP AD Insensitivity to pain, congenital CIP AR Paroxysmal extreme pain disorder, not listed AD Small fiber neuropathy not listed AD Holoprosencephaly-3 HPE AD Microphthalmia with coloboma 5 MCOPCB AD sodium channel, voltage gated, type VIII alpha subunit sodium channel, voltage gated, type IX alpha subunit sonic hedgehog SCN8A SCN9A SHH

6 Schizencephaly not listed AD Single median maxillary central incisor SMMCI AD Holoprosencephaly-2 HPE AD, IC Schizencephaly not listed AD Microcephaly, Amish type MCPHA AR Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) THMD AR solute carrier family 25 (mitochondrial carrier: glutamate), Epileptic encephalopathy, early infantile, 3 EIEE AR SLC25A22 member 22 GLUT1 deficiency syndrome 2 GLUT1DS AD Hyperekplexia 3 HKPX AD / AR Mental retardation, X-linked syndromic, Christianson type MRXSCH XLD solute carrier family 2 (facilitated glucose transporter), member 1 solute carrier family 6 (neurotransmitter transporter), member 5 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 Epileptic encephalopathy, early infantile, 5 EIEE AD spectrin alpha, non-erythrocytic 1 SPTAN1 Infantile epileptic encephalopathy not listed t listed AD SLIT-ROBO Rho GTPase activating protein 2 SRGAP2 Amish infantile epilepsy syndrome not listed AR ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL5 Microcephaly 7, primary, autosomal recessive MCPH AR SCL/TAL1 interrupting locus STIL Epileptic encephalopathy, early infantile, 4 EIEE AD syntaxin binding protein 1 STXBP1 Sulfite oxidase deficiency not listed AR sulfite oxidase SUOX Epilepsy, X-linked, with variable learning disabilities and behavior disorders SLC2A1 SLC6A5 SLC9A6 not listed XLD / XLR synapsin I SYN1 Mental retardation, autosomal dominant 5 MRD AD synaptic Ras GTPase activating protein 1 SYNGAP1 Deafness, autosomal recessive 86 DFNB AR Deafness, autosomal dominant 65 DFNA AD DOOR syndrome DOORS AR Epileptic encephalopathy, early infantile, 16 EIEE AR Myoclonic epilepsy, infantile, familial FIME AR Pitt-Hopkins syndrome PTHS AD transcription factor 4 TCF4 Holoprosencephaly-4 HPE AD TGFB-induced factor homeobox 1 TGIF1 Ceroid lipofuscinosis, neuronal, 2 CLN AR Spinocerebellar ataxia, autosomal recessive 7 SCAR AR Focal cortical dysplasia, Taylor balloon cell type FCDT IC sonic hedgehog SIX homeobox 3 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 TBC1 domain family member 24 tripeptidyl peptidase I SHH SIX3 SLC25A19 TBC1D24 TPP1

7 Lymphangioleiomyomatosis LAM sporadic Tuberous sclerosis-1 TSC AD Lymphangioleiomyomatosis, somatic LAM sporadic Tuberous sclerosis-2 TSC AD Pontocerebellar hypoplasia type 2B PCH2B AR trna splicing endonuclease subunit 2 TSEN2 Pontocerebellar hypoplasia type 2C PCH2C AR trna splicing endonuclease subunit 34 TSEN34 Pontocerebellar hypoplasia type 2A PCH2A AR Pontocerebellar hypoplasia type 4 PCH AR Angelman syndrome AS IC ubiquitin protein ligase E3A UBE3A Microcephaly 2, primary, autosomal recessive, with or without cortical malformations tuberous sclerosis 1 tuberous sclerosis 2 trna splicing endonuclease subunit 54 MCPH AR WD repeat domain 62 WDR62 Mowat-Wilson syndrome MOWS AD zinc finger E-box binding homeobox 2 ZEB2 TSC1 TSC2 TSEN54 Holoprosencephaly-5 HPE AD Zic family member 2 ZIC2

8 HGNC OMIM number of number of the gene the gene Evidence of association between gene and condition % of horizontal coverage of the gene at 10x % of horizontal coverage of the gene at 30x MLPA PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 6.8 PubMed: PubMed: PubMed: ± ± PubMed: PubMed: PubMed: PubMed: PubMed: PubMed: ± ± PubMed: ± ± 10.3 PubMed: PubMed: PubMed: ± ± 2.2 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 4.3

9 PubMed: ± ± PubMed: ± ± PubMed: ± ± 0.7 PubMed: ± ± 1.8 PubMed: PubMed: ± ± 3.0 PubMed: PubMed: ± ± 1.9 PubMed: PubMed: ± ± 0.4 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 0.0 PubMed: PubMed: PubMed: PubMed: PubMed: ± ± 18.9 PubMed: PubMed: PubMed: PubMed:

10 PubMed: PubMed: ± ± PubMed: ± ± 3.6 PubMed: ± ± 0.2 PubMed: PubMed: ± ± 0.5 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 0.8 PubMed: ± ± 4.7 PubMed: PubMed: ± ± 1.1 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± 4.8 PubMed: ± ± 5.3 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 4.0

11 PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 2.0 PubMed: PubMed: PubMed: PubMed: , 88.5 ± ± 15.9 PubMed: PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± 3.6 PubMed: PubMed: PubMed: ± ± 1.8 PubMed:

12 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: PubMed: PubMed: PubMed: ± ± PubMed: ± ± 0.8 PubMed: ± ± 4.1 PubMed: ± ± 0.4 PubMed: PubMed: PubMed: PubMed: ± ± 5.0 PubMed: PubMed: PubMed: ± ± 0.6 PubMed: PubMed: ± ± 1.6 PubMed: ± ± 0.9 PubMed: PubMed: PubMed: PubMed: ± ± 0.9 PubMed: PubMed: PubMed: PubMed: PubMed: ± ± 3 2

13 ± ± 3.2 PubMed: PubMed: PubMed: ± ± 3.5 PubMed: PubMed: ± ± 6.4 PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: PubMed: PubMed: PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± 4.0 PubMed: ± ± 3.0 PubMed: PubMed:

14 PubMed: PubMed: PubMed: ± ± ± ± 6.4 PubMed: PubMed: ± ± PubMed: ± ± PubMed: PubMed: ± ± PubMed: ± ± PubMed: ± ± PubMed: , 99.0 ± ± PubMed: ± ± 1.7