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EDGE All Genes List

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Locus Phenotype
10p12.31 Autism: CNV
10q11.21-21.1 Autism: CNV
15q11.2-q13.1 Autism: CNV
16p11.2 Autism: CNV
16p12.1 Autism: CNV
16p13.1 Autism: CNV
16p13.2 Autism: CNV
22q11.2 Autism: CNV
2q12.1-q13 Autism: CNV
2q24.1-q24.2 Autism: CNV
4q35.2 Autism: CNV
7q11.2 Autism: CNV
7q22.1 Autism: CNV
8q12.3-q13.1 Autism: CNV
9p24.3-p24.2 Autism: CNV
ACD Inherited bone marrow failure
ACD Inherited bone marrow failure syndrome
ADAR Aicardi–Goutie?res syndrome
ADAR CVID,spastic tetraplegia, FTT
AIRE Hypoparathyroidism
ANK3 Autism, ADHD, Anxiety, OCD, sleeping disturbances, seizures, speech regression ~18 months old, severe cognitive deficits, short stature
ANK3 Autism, ADHD, Anxiety, OCD, sleeping disturbances, seizures, speech regression, severe cognitive deficits
ANKRD26 Thrombocytopenia
CACNA1S recurrent paroxysmal dystonia during general anesthesia
CACNA1S Recurrent paroxysmal dystonia, hyperhydrosis, and restless leg syndrome
CACNA1S Paroxysmal dystonia restless legs
CASR FHH with Hypercalciuria
CASR Hypercalcemia
CASR Hypoparathyroidism
CASR FHH with Hypercalciuria
CASR Hypercalcemia
CASR Hypoparathyroidism
CASR Hypoparathyroidism
CASR Hypoparathyroidism
CELSR2 Profound cognitive impairment, self-injurious behaviors, and aggressive behaviors
CLN5 Adult-onset autosomal recessive ataxia
CNTN4 (3p26.3) Autism: CNV
CNTNAP2 (7q35-q36.1) Autism: CNV
COG1/KIF2A Profound cognitive impairment, self-injurious behaviors, and aggressive behaviors
COLQ Congenital myasthenia
COLQ Mitochondrial respiratory chain disorder
CSMD1 (8p23.2) Autism: CNV
CYP24A1 Hypercalcemia, high PTHrP
CYP24A1 Hypercalcemia with high PTHrP
CYP2C19 PGX: TCAs: amitriptiline, clomipramine, imipramine, doxepine, trimipramine; clopidogrel; citalopram, escitalopram; esomeprazol, omeprazol, lansoprazole; sertraline; voriconazol
CYP2C9 PGX: Acenocumarol and phenprocoumon; Phenytoin
CYP2D6 PGX: TCAs: amitriptyline, nortriptyline, clomipramine, imipramine, doxepine, trimipramine; paroxetine; venlafaxine; oxycodone; tramadol; aripiprazol; atomoxetine; flecainide; haloperidol; metoprolol; propafenone; risperidone; tamoxifene; zuclopenthixol
DMP1 Hypophosphatemic rickets
DMP1 Hypophosphatemic rickets
DNMT1 sensorineural hearing loss
DNMT1 and NOD2 h/o headaches, speech delay, neurocognitive dysfunction, and sensorineural hearing loss (SNHL); GI dysmotility with intermittent explosive diarrhea suspected to be ulcerative colitis of the distal colon/rectum
DPP6 (7q36.2) Autism: CNV
DYPD PGX: Fluoropyrimidines: 5-fluorouracil, capecitabine or tegafur
ENPP1 Hypophosphatemic rickets
ENPP1 Hypophosphatemic rickets
ENPP1 Hypophosphatemic rickets
EPHB4 Lymphangiomatosis
EPHB4 Lymphangiomatosis
FAM111A Kenny-caffey syndrome
FAM111A Kenny-Caffey syndrome
FAM111A Kenny-Caffey syndrome
FAM111A Kenny-Caffey syndrome
FANCD2 Fanconi Anaemia
GALNT3 Tumoural calcinosis
GCM2 Hypoparathyroidism
GCM2 Hypoparathyroidism
GNA11 Hypoparathyroidism
GNA11 Hypoparathyroidism
GRIN2D global developmental delay, hypotonia, epilepsy, delayed brain myelination
GRIN2D Global developmental delay, hypotonia, epilepsy, and delayed brain myelination
GRIN2D GDD hypotonia epilepsy
H3F3A 1-2-3 toe syndactyly on the left foot. Agenesis of the corpus callosum, Atrial Septal Defect, micrognathia, broad thumbs, microcephaly, Failure to thrive, developmental delay, very small stature, and craniosynostosis
HLA-B PGX: Abacavir; allopurinol; carbamazepine
IRF2BP2 CVID
ITPKC Lupus nephritis, early onset
ITPKC Lupus nephritis
JPH1 Severe and global developmental regression, non-verbal and largely non-interactive with static encephalopathy, pronounced hypotonia, as well as intractable epilepsy
JPH1 Severe and global developmental regression, non-verbal and largely non-interactive with static encephalopathy, pronounced hypotonia, intractable epilepsy
KAT6A pulmonary hypertension (congenital anomalies of pulmonary artery and congenital stenosis of pulmonary valve), congenital heart disease (PDA s/p surgical closure, ASD closing spontaneously), sagittal craniosynostosis, developmental delay with no speech, dysmorphic features (midline cleft, hypertelorism, large hands and feet, long fingers and toes, etc.), congenital hypotonia, recurrent infections (chronic lymphcytopenia)
KIF1A significant developmental delays, neonatal onset encephalopathy, seizures with multifocal EEG, that activates in sleep; Atrophy of cerebellum, white matter gliosis and volume loss
KIF1A Developmental delay, neonatal onset encephalopathy, seizures with multifocal EEG, and atrophy of cerebellum
KIF1A GDD encephalopathy seizures brain atrophy
KIF2A global developmental delay, mild intellectual disability (IQ 70) functioning at the 1st-2nd grade level, PDD/asperger syndrome, congenital hypotonia, history of one generalized tonic clonic seizure and several dysmorphic features (including macrocephaly, hypertelorism, pes planus)
KRAS Familial Haemophagocytic Lymphohistiocytosis
MAP4K4 pronounced microcephaly, absent speech, severe dysautonomia, hypotonia, FTT requiring TPN and G/J tube feeds, epilepsy, optic nerve hypoplasia/atrophy, peripheral neuropathy, central white matter disease, developmental regression and minor dysmorphic features
MFN2 dysautonomia and neuropathy
MFN2 Dysautonomia and neuropathy
MLL Developmental delay, congenital hypotonia, learning disabilities and multiple dysmorphia
MLL Developmental delay, congenital hypotonia, learning disabilities and multiple dysmorphia
MMP13 Metaphyseal anadysplasia
MMP13 Metaphyseal anadysplasia
MMP13 Metaphyseal dysplasia
MRPS7 Congenital sensorineural deafness, progressive hepatic and renal failure, and lactic acidemia
MRPS7 Mitochondrial respiratory chain disorder
MYH9 Macrothrombocytopenia and cranial synostosis
NARS2 and MCCC2 3 MCC deficiency, ID, seizures, complex brain abnormalities, short stature, microcephaly, scoliosis, contractures, hypertonia, sensorineural hearing loss and blindness
NDUFV1 Mitochondrial respiratory chain disorder – complex I deficiency in muscle, lymphocytes and fibroblasts
NDUFV1 Leigh disease
NDUFV1 Leigh disease
NGLY1 hypotonia, FTT, light twitching, developmental delay, mild hearing loss, chronic liver disease
NGLY1 Hypotonia, FTT, light twitching, developmental delay, mild hearing loss, and chronic liver disease
NOTCH3 Infantile myofibromatosis
NOTCH4 Scleroderma diffuse type, early onset
NOTCH4 Familial systemic sclerosis
NOTCH4 Scleroderma
NRXN1 (2p16.3) Autism: CNV
PDGFRB Infantile myofibromatosis
PDGFRB/ NOTCH3 Infantile Myofibromatosis
PIGN Central Hypotonia, Intellectual disability, Dysmorphic features, Cerebellar hypoplasia and seizures
POLR3B Hypomyelination, hypodontia and hypogonadotropic hypogonadism leukoencephalopathy
POLR3B Leukodystrophy
PORCN Lenz microphthalmia, duplicated thumb, 3,4 syndactyly of one hand and one foot
PORCN Lenz microphthalmia, duplicated thumb, 3,4 syndactyly of one hand and one foot
PRKAR1A Acrodysostosis
PRPS1 Neuropathy, hearing loss and retinopathy
RBCK1 Neuromuscular disorder with cardiac myopathy
RPS19 Diamond Blackfan anaemia
SETBP1 Metabolic myopathy characterized by lifelong muscle soreness with exercise that has progressed significantly over the last 2-3 years to now complete exercise intolerance and severe generalized muscle cramping
SETX Atypical form of Ataxia with Oculomotor Apraxia Type 2 with myoclonus
SHANK2 (11q13.3) Autism: CNV
SHANK3 (22q13.33) Autism: CNV
SLC12A1 Bartter syndrome with hyperparathyroidism
SLC12A1 Bartter syndrome with hyperparathyroidism
SLC12A1 Bartter syndrome
SLC25A12 Developmental delay, congenital hypotonia, mixed epilepsy, delayed myelination
SLC25A12 Developmental delay, hypotonia, mixed epilepsy, delayed myelination
SLC25A12 GDD hypotonia epilepsy
SLC34A3 hypercalcemia; high 1.25(OH)2D
SLC34A3 Hypercalcemia with high 1.25(OH)2D
SLCO1B1 PGX: Simvastatin
SPECC1L Opitz G/BBB syndrome
SPECC1L Opitz G/BBB syndrome
SPECC1L Hypertelorism, cleft lip/palate
STXBP1 Intractable mixed epilepsy since 6 months old; ataxia; resting tremor since late infancy; intermittent right ptosis with fatigue; left leg spasticity; history of language regression at 20 months (prior had 4-6 words) and now non-verbal and largely non-communicative; static encephalopathy; rod-cone retinal dystrophy with mild peripheral mottling
STXBP1 Intractable mixed epilepsy since 6 months old; ataxia; resting tremor since late infancy; intermittent right ptosis with fatigue; left leg spasticity
TBX1 Hypoparathyroidism
TBX1 Hypoparathyroidism
TOP2B Hoffman syndrome/Ablepharon Macrostomia syndrome (Immune Deficiency, No B cells, Severely low NK cells, Low IGG, IGA and IGM, muscle weakness, seizure, etc.)
TPMT PGX: Azathioprine, mercaptopurine and thioguanine
TTC37 TRICHOHEPATOENTERIC SYNDROME - Chronic osteomyelitis, diarrhea, failure to thrive, developmental delay, trichorrhexis nodosa, dysmorphism
TUBB4A Isolated hypomyelination
TUBB4A Leukodystrophy
TULP1 Leber Congenital Amaurosis
TULP1 Leber Congenital Amaurosis
UGT1A1 PGX: Irinotecan
VKORC1 PGX: Acenocumarol and phenprocoumon
VPS13B Cohen syndrome
VPS13B Cohen syndrome
WDR45 Autism, developmental delay and speech regression, poor fine motor coordination, congenital hypotonia
WDR45 Autism, developmental delay and speech regression, poor fine motor coordination, congenital hypotonia
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