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EDGE Disease Genes List

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Phenotype Locus
3 MCC deficiency NARS2 and MCCC2 (current link 10p12)
Absent speech MAP4K4
Acrodysostosis PRKAR1A
ADHD, Anxiety ANK3
Adult-onset autosomal recessive ataxia CLN5
Agenesis of the corpus callosum H3F3A
Aggressive behaviors CELSR2COG1/KIF2A
Aicardi–Goutieres syndrome ADAR
Anxiety ANK3
Ataxia STXBP1
Ataxia, atypical with Oculomotor Apraxia Type 2 with myoclonus SETX
Atrial Septal Defect H3F3A
Atrophy of cerebellum KIF1A
Autism ANK3; CNTN4; CNTNAP2; CSMD1; DPP6; NRXN1; SHANK2; SHANK3; WDR45
Autism: CNV CNV loci: 10p12.31; 10q11.21-21.1; 15q11.2-q13.1; 16p11.2; 16p12.1; 16p13.1; 16p13.2; 22q11.2; 2q12.1-q13; 2q24.1-q24.2; 4q35.2; 7q11.2; 7q22.1; 8q12.3-q13.1; 9p24.3-p24.2
Bartter syndrome with hyperparathyroidism SLC12A1
Blindness NARS2 and MCCC2
Central Hypotonia PIGN
Central white matter disease MAP4K4
Cerebellar hypoplasia PIGN
Chronic liver disease NGLY1
Chronic osteomyelitis TTC37
Cohen syndrome VPS13B
Complex brain abnormalities NARS2 and MCCC2
Congenital anomalies of pulmonary artery KAT6A
Congenital heart disease KAT6A
Congenital hypotonia KAT6A; MLL
Congenital hypotonia SLC25A12
Congenital myasthenia COLQ
Congenital sensorineural deafness MRPS7
Congenital stenosis of pulmonary valve KAT6A
Contractures NARS2 and MCCC2
Craniosynostosis H3F3A; MYH9
CVID ADAR; IRF2BP2
Delayed brain myelination GRIN2D
Delayed myelination SLC25A12
Developmental delay KIF1A; MLL; NGLY1; SLC25A12; TTC37; WDR45; KAT6A
Developmental delay with no speech KAT6A
Developmental regression MAP4K4
Diamond Blackfan anaemia RPS19
Duplicated thumb PORCN
Dysautonomia and neuropathy MFN2
Dysmorphic features MAP4K4; PIGN
Dysmorphic features (midline cleft, hypertelorism, large hands and feet, long fingers and toes, etc.), KAT6A
Dysmorphism TTC37
Encephalopathy (neonatal onset) KIF1A
Epilepsy GRIN2D; MAP4K4; SLC25A12
Familial Haemophagocytic Lymphohistiocytosis KRAS
Familial systemic sclerosis NOTCH4
Fanconi Anaemia FANCD2
FHH with Hypercalciuria CASR
FTT ADAR; MAP4K4; NGLY1
GI dysmotility, ulcerative colitis DNMT1 and NOD2
Global developmental delay GRIN2D; SLC25A12
Hearing loss PRPS1
Hoffman syndrome/Ablepharon Macrostomia syndrome (Immune Deficiency, No B cells, Severely low NK cells, Low IGG, IGA and IGM, muscle weakness, seizure) TOP2B
Hypercalcemia CASR; SLC34A3
Hypercalcemia with high PTHrP CYP24A1
Hyperhydrosis CACNA1S
Hypertelorism, cleft lip/palate SPECC1L
Hypertonia NARS2 and MCCC2
Hypodontia POLR3B
Hypogonadotropic hypogonadism POLR3B
Hypomyelination POLR3B
Hypoparathyroidism CASR
Hypoparathyroidism GCM2; GNA11; TBX1; AIRE
Hypophosphatemic rickets DMP1; ENPP1
Hypotonia GRIN2D; JPH1; MAP4K4; MLL; NGLY1; WDR45; SLC25A12
Infantile Myofibromatosis NOTCH3; PDGFRB/ NOTCH3
Inherited bone marrow failure ACD
Intellectual disability NARS2 and MCCC2; PIGN
Intractable epilepsy JPH1
Intractable mixed epilepsy (early onset, 6 months) STXBP1
Isolated hypomyelination TUBB4A
Kenny-caffey syndrome FAM111A
Lactic acidemia MRPS7
Language regression STXBP1
Leber Congenital Amaurosis TULP1
Leg spasticity STXBP1
Leigh disease NDUFV1
Lenz microphthalmia PORCN
Leukodystrophy TUBB4A
Leukoencephalopathy POLR3B
Light twitching NGLY1
Lupus nephritis ITPKC
Lymphangiomatosis EPHB4
Macrothrombocytopenia MYH9
Metabolic myopathy (lifelong muscle soreness with exercise, complete exercise intolerance, severe generalized muscle cramping) SETBP1
Metaphyseal anadysplasia MMP13
Microcephaly H3F3A; MAP4K4; NARS2 and MCCC2
Micrognathia H3F3A
Mild hearing loss NGLY1
Mild peripheral mottling STXBP1
Mitochondrial respiratory chain disorder COLQ; MRPS7
Mitochondrial respiratory chain disorder – complex I deficiency in muscle, lymphocytes and fibroblasts NDUFV1
Mixed epilepsy SLC25A12
Multiple dysmorphia MLL
Neuromuscular disorder with cardiac myopathy RBCK1
Neuropathy PRPS1; MFN2
OCD ANK3
Opitz G/BBB syndrome SPECC1L
Optic nerve hypoplasia/atrophy MAP4K4
Peripheral neuropathy MAP4K4
Profound cognitive impairment, CELSR2; COG1/KIF2A
Progressive hepatic and renal failure MRPS7
Pulmonary hypertension KAT6A
Recurrent infections (chronic lymphcytopenia) KAT6A
Recurrent paroxysmal dystonia during general anesthesia CACNA1S
Resting tremor (early onset, late infancy) STXBP1
Restless leg syndrome CACNA1S
Retinopathy PRPS1
Right ptosis (intermittent) with fatigue STXBP1
Rod-cone retinal dystrophy STXBP1
Sagittal craniosynostosis KAT6A
Scleroderma NOTCH4
Scoliosis NARS2 and MCCC2
Seizures ANK3; NARS2 and MCCC2; PIGN
seizures (multifocal EEG) KIF1A
Self-injurious behaviors CELSR2; COG1/KIF2A
Sensorineural hearing loss NARS2 and MCCC2; DNMT1; DNMT1 and NOD2
Severe and global developmental regression JPH1
Severe dysautonomia MAP4K4
Short stature ANK3
Sleeping disturbances ANK3
Spastic tetraplegia ADAR
Speech regression ANK3; WDR45
Static encephalopathy JPH1; STXBP1
Syndactyly H3F3A; PORCN
Thrombocytopenia ANKRD26
Trichohepatoenteric syndrome TTC37
Trichorrhexis nodosa TTC37
Tumoural calcinosis GALNT3
White matter gliosis and volume loss KIF1A
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