### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARF1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ARF1" "ADP-ribosylation factor 1" "1" "q42.13" "unknown" "NC_000001.10" "UD_136085605339" "" "https://www.LOVD.nl/ARF1" "" "1" "652" "375" "103180" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ARF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-05 10:55:19" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025870" "ARF1" "transcript variant 4" "002" "NM_001658.3" "" "NP_001649.1" "" "" "" "-143" "1745" "546" "228270361" "228286913" "00006" "2023-11-05 09:26:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05470" "PVNH" "periventricular nodular heterotopia" "AR" "" "" "" "" "00006" "2018-08-24 17:01:59" "00006" "2023-11-05 11:30:38" "06044" "PVNH8" "heterotopia, nodular, periventricular, type 8" "AD" "618185" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-04-19 19:01:34" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARF1" "05470" "ARF1" "06044" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00416550" "" "" "" "1" "" "01164" "" "prenatal trio Dx after ultrasound abnormalities" "M" "no" "" "" "0" "" "" "" "205242" "00440608" "" "" "" "1" "" "00006" "{PMID:Ge 2016:28868155}" "" "M" "" "United States" "" "0" "" "" "" "Pat1" "00440609" "" "" "" "1" "" "00006" "{PMID:Ge 2016:28868155}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00440610" "" "" "" "1" "" "00006" "{PMID:Ge 2016:28868155}, {PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat3;-" "00440611" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat1" "00440612" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat2" "00440613" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat3" "00440614" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat4" "00440615" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat5" "00440616" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat6" "00440617" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat7" "00440618" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat8" "00440619" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "" "M" "" "" "" "0" "" "" "" "Pat9" "00440620" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat10" "00440621" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat11" "00440622" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat12" "00440623" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat13" "00440624" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat14" "00440625" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat15" "00440626" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat16" "00440627" "" "" "" "1" "" "00006" "{PMID:de Sainte Agathe 2023:37185208}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00416550" "06044" "00440608" "00198" "00440609" "05470" "00440610" "05470" "00440611" "05470" "00440612" "05470" "00440613" "05470" "00440614" "05470" "00440615" "05470" "00440616" "05470" "00440617" "05470" "00440618" "05470" "00440619" "05470" "00440620" "05470" "00440621" "05470" "00440622" "05470" "00440623" "05470" "00440624" "05470" "00440625" "05470" "00440626" "05470" "00440627" "05470" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05470, 06044 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000308270" "06044" "00416550" "01164" "Isolated (sporadic)" "" "Hydrops fetalis, Fetal akinesia sequence, Elbow flexion contracture, Knee flexion contracture, Talipes equinovarus, Scoliosis" "00y" "" "" "" "" "" "" "" "" "" "" "0000330520" "00198" "00440608" "00006" "Isolated (sporadic)" "09y" "see paper; ..., born at term; developmental disability, attention deficit hyperactivity; weight 70th centile, height 60th centile, OFC 60th centile; otitis media, developmental delay, speech delay, no seizure, EEG normal, MRI brain periventricular heterotopia, diminished white matter" "" "" "" "" "" "" "" "" "PVNH8" "" "" "0000330521" "05470" "00440609" "00006" "Isolated (sporadic)" "15y" "developmental delays, speech delay, seizures; OFC 15y-5th centile, weight 20th centile, height 3th centile, spasticity, regressed in language abilities., MRI brain delay in myelination, cortical thinning, vermis atrophy" "" "" "" "" "" "" "" "" "PVNH8" "periventricular heterotopia" "" "0000330522" "05470" "00440610" "00006" "Isolated (sporadic)" "7y" "no microcephaly; no growth delay; motor delay; not walking; speech delay, 5-6y-first words; severe intellectual disability; normal behaviour; 3y-focal seizures with impaired awareness, absences; hypotonia, spasticity; stereotypies; MRI brain 2m-short dysplastic corpus callosum; Retrocerebellar cyst and possble small vermis; cerebral atrophy; looks microcephalic, low frontal hair line, full eyebrows, high palate, gingival hyperplasia; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; grey hairs, irritated skin on face (because of touching mouth and face continously, dissapears when hands are restricted); normal endocrine system; no sleep disturbance; Scoliosis" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330523" "05470" "00440611" "00006" "Isolated (sporadic)" "3y" "no microcephaly; no growth delay; motor delay; 18m-walk; speech delay, 24m-first words; mild intellectual disability; attention deficit hyperactivity disorder; 3y11m-one tonic-clonic seizure; EEG abnormal due to focal slowing over the right frontoventral temporal region; no hypotonia, no spasticity, no ataxia; MRI brain 3y11m-thin corpus callosum, no splenium; possible focal cortical malformation (L central sulcus and precentral gyrus), no evidence of pachygyria.; morphology normal; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330524" "05470" "00440612" "00006" "Isolated (sporadic)" "16m" "no microcephaly; growth delay; motor delay; no walk yet; speech delay, no speech; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 2y-periventricular nodular heterotopia, thin corpus callosum; prominent forehead, pointed chin; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; bowel constipation; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Sprengel deformity both sides, hypermobility of joints" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330525" "05470" "00440613" "00006" "Isolated (sporadic)" "4y" "no microcephaly; no growth delay; motor delay; 22m-23m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder; 12m-focal seizure; EEG focal epileptic discharges, slow background cerebral activity for age; hypotonia, spasticity; MRI brain 2m-thin corpus callosum; slender nasal bridge, small mouth, bilateral 5th clinodactyly; no hearing loss; mild astigmatism; small patent foramen ovale; rnormal espiratory system; used to be extremely constipated; coronal hypospadias, bilateral small kidneys; mottled skin, cold and red extremities, hyperkeratotic skin on hands, hair unruly, central frontal whorl; normal endocrine system; no sleep disturbance;" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330526" "05470" "00440614" "00006" "Isolated (sporadic)" "" "microcephaly; 2y-walk; speech delay, 1y-first words; moderate intellectual disability; no seizures; mild hypotonia; MRI brain 13m2y-normal; looks microcephalic, no other characteristics noted; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, recurrent infections, eosinophilic esophagitis, uses G-tube for feeds in addition to feeds by mouth" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330527" "05470" "00440615" "00006" "Isolated (sporadic)" "12y6m" "microcephaly; no growth delay; motor delay; 14m-walk; speech delay; moderate intellectual disability; attention deficit hyperactivity disorder, anxiety, occasional aggressive behaviors; 3y-two convulsive seizures; EEG persistent diffuse activity, independent sharp waves in left parietal temporal and right central temporal regions; hypotonia; diminished balance, coordination, and core strength; MRI brain 15m/7y-periventricular nodular heterotopia; flat forehead,left exotropia, mildly upslanting palpebral fissures, Robin sequence without cleft, severe crowding clas II malocclusion of middle mixed dentition, micrognathia; left conductive hearing loss, abundant ear wax; amblyopia, exotropia; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, obstructive sleep apnea spontaneously resolved. Awakenings, poor sleep patterns, improved with klonopin." "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330528" "05470" "00440616" "00006" "Isolated (sporadic)" "10y" "microcephaly; no growth delay; motor delay; 23m-walk; speech delay, 1y-first words; intellectual disability; no seizures; no hypotonia, no spasticity, no ataxia; MRI brain thin corpus callosum, short; palpebral fissures upslanted, low-set posteriorly rotated ears, anteversed nostrils, thin upper lip, micrognathism; sensitivity to noise, normal auditory evoked potential; normal vision; rnormal espiratory system; hypospadias, vesico-renal reflux; urogenital system suction difficulties); no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330529" "05470" "00440617" "00006" "Isolated (sporadic)" "16m" "microcephaly; no growth delay; motor delay; speech delay, noo speech yet; irritability; no seizures; EEG normal; Spasticity; myoclonus; MRI brain normal; bilateral cortical dysplasia; morphology normal; bilateral profound sensorineural hearing loss; cortical vision impairment; history of patent foramen ovale, stenosis of left pulmonary artery; stenosis of left pulmonary artery; G-tube dependent; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330530" "05470" "00440618" "00006" "Isolated (sporadic)" "25m" "no microcephaly; growth delay; motor delay; 23m-walk; speech delay, 18m-first words; moderate intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 16m-thin corpus callosum; slight epicanthal folds, prominent forehead, short nose, anteverted nares, rounded nasal tip, flatter nasal bridge, prominent philtrum; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; persistent elevation of ALT/AST, G-tube nutrition (difficulty swallowing); normal urogenital system; no skin/hair/nail anomalies; small endocrine system; sleep disturbance, severe obstructive sleep apnea, improved by tonsillectomy, adenoidectomy, supraglottaplasty; pectus deformity of chest" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330531" "05470" "00440619" "00006" "Unknown" "2y" "no microcephaly; no growth delay; motor delay; 27m-walk; speech delay, 2y-first words; no seizures; EEG rare bifrontal epileptiform discharges during sleep; no hypotonia, no spasticity, no ataxia; MRI brain normal; mild bilateral ptosis, widely spaced eyes, upslanted palpebral fissures, broad mouth with everted lower lip and full lips, pointed chin, retrognathia, tapered fingers; L sensorineural hearing loss (aided); myopia, prescribed glasses; no cardiac anomalies; rnormal espiratory system; elevated LFTs, 1y-liver biopsy negative cholestasis, sparse patchy lobular necroinflammatory, no sign portal inflamm, no hemochromatosis, negative staining for glycogen storage disease, normal mitochondrial; normal urogenital system; recurrent pernio-like rashes that wax and wane (erythematous papules, macules); normal endocrine system; sleep disturbance, awakenings; WGS negative for Aicardi-Goutierres genes" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330532" "05470" "00440620" "00006" "Isolated (sporadic)" "14y" "microcephaly; no growth delay; motor delay; 36m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; 4y-partial epilepsy; EEG abnormal; hypotonia; motor stereotypie; MRI brain 12y-thin corpus callosum; cerebral and cerebellar atrophy; long palpebral fissures, prominent nose, hight nasal root, short philtrum, dental malposition, microretrognathia; no hearing loss; astygmatism; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; 2 hyperchromic spots; normal endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330533" "05470" "00440621" "00006" "Isolated (sporadic)" "8y" "microcephaly; no growth delay; motor delay; 23m-walk; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder, autism, mild agression when at home; 2m-infantile spasms; EEG 4m-modified hypsarhythmia, 3y-normal; hypotonia; stereotopies; MRI brain 4m-thin corpus callosum; morphology normal; no hearing loss; hyperopia; no cardiac anomalies; rnormal espiratory system; intolerance to dairy and carbohydrates; retractile testes but otherwise Normal; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330534" "05470" "00440622" "00006" "Isolated (sporadic)" "2y" "microcephaly; growth delay; motor delay; 34m-walk; speech delay, no speech; severe intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia, ataxia; myoclonus, stereotypies; MRI brain 2y-thin corpus callosum; cerebelar hypoplasia; blepharophimosis, low-set ears, short philtrum, retroprognatism, clinodactyly; no hearing loss; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330535" "05470" "00440623" "00006" "Isolated (sporadic)" "7y" "microcephaly; no growth delay; motor delay; 4y-walk assisted; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder; 2y-dialeptic/focal seizure right arm, GTC; EEG abnormal; hypotonia, spasticity, ataxia; dyskinesia/dystonia; MRI brain thin corpus callosum; gyration abnormality, polymicrogyria (frontal and parietal), thin myelon, cystic structure frontal right, enlarged ventricles; high palate; previously conductive hearing loss, currently no problems; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; recurrent urinary tract infection since neonate; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, 1-3h awake during night time" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330536" "05470" "00440624" "00006" "Isolated (sporadic)" "3y10m" "microcephaly; growth delay; motor delay; 40m-walk assisted; speech delay, 2y-first words; severe intellectual disability; normal behaviour; no seizures; hypotonia, ataxia; MRI brain periventricular nodular heterotopia; microcephalic; morphology normal; no hearing loss; severe strabismus; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; short endocrine system; no sleep disturbance" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330537" "05470" "00440625" "00006" "Isolated (sporadic)" "13y" "no microcephaly; no growth delay; motor delay; 26m-walk; speech delay; moderate intellectual disability; no seizures; mild hypotonia, ataxia; waddling gait; MRI brain periventricular nodular heterotopia; high forhead, hypertelorism, anteverted nares, narrow downslanted palpebral fissures; hearing loss; normal vision; interventricular communication; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; polyneuropathy" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330538" "05470" "00440626" "00006" "Isolated (sporadic)" "3y2m" "no microcephaly; no growth delay; motor delay; 3y-no walk; speech delay, no speech; intellectual disability; normal behaviour, no aggression, no self-injury; 3m-infantile spasms, later absence, \"drop attacks\"; EEG left sided temporal changes, hypsarrhythmia; mild hypotonia, spasticity; No; MRI brain 2y-normal; mild supratentorial volume loss, significant cerebellar volume loss; long, down-slanting palpebral fissures, epicanthal folds, ectropion bilaterally, long lashes, medially sparse but well- arched eyebrows, depressed nasal bridge, pointed chin, tapered fingers, fetal pads; no hearing loss; nystagmus, cortical visual impairment; no cardiac anomalies; rnormal espiratory system; gastroesophageal reflux disease, G-tube in place, frequent vomiting; cryptorchidism; inverted nipple, sacral dimple; normal endocrine system; <3y-poor sleeper; Parents noted he is quite sweaty, social (laughs, smiles)" "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" "0000330539" "05470" "00440627" "00006" "Isolated (sporadic)" "8y" "no microcephaly; no growth delay; motor delay; 24m-walk; speech delay, 18m-first words; mild intellectual disability; attention deficit hyperactivity disorder, autism, irritability and aggression, impulsive behaviors; 6m-febrile seizure, 7y-nonfebrile seizure; EEG presence of intermittent generalized slowing; no hypotonia, no spasticity, no ataxia; No; MRI brain 8y-normal; significant cerebellar volume loss; 1.9mm pineal region cysts; dental malocclusion, high arched palate, pes planus; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance; Tonsilectomy due to frequest choking episodes." "" "" "" "" "" "" "" "" "PVNH8" "periventricular nodular heterotopia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000417832" "00416550" "1" "01164" "01164" "2022-09-05 12:32:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000442093" "00440608" "1" "00006" "00006" "2023-11-05 10:46:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442094" "00440609" "1" "00006" "00006" "2023-11-05 10:56:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442095" "00440610" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442096" "00440611" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442097" "00440612" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442098" "00440613" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442099" "00440614" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000442100" "00440615" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "GS trio" "0000442101" "00440616" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442102" "00440617" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442103" "00440618" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000442104" "00440619" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS duo" "0000442105" "00440620" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442106" "00440621" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442107" "00440622" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442108" "00440623" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442109" "00440624" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000442110" "00440625" "1" "00006" "00006" "2023-11-05 11:38:45" "00006" "2023-11-05 11:42:42" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000442111" "00440626" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000442112" "00440627" "1" "00006" "00006" "2023-11-05 11:38:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000417832" "ARF1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 27 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000260156" "0" "50" "1" "228285328" "228285328" "subst" "0" "02329" "ARF1_000001" "g.228285328G>A" "" "" "" "ARF1(NM_001024227.1):c.296G>A (p.R99H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228097627G>A" "" "VUS" "" "0000272246" "0" "50" "1" "228290912" "228290912" "subst" "0" "01943" "C1orf35_000001" "g.228290912C>A" "" "" "" "C1orf35(NM_024319.4):c.17G>T (p.R6L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228103211C>A" "" "VUS" "" "0000505752" "0" "50" "1" "228285328" "228285328" "subst" "0" "02327" "ARF1_000001" "g.228285328G>A" "" "" "" "ARF1(NM_001024227.1):c.296G>A (p.R99H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228097627G>A" "" "VUS" "" "0000877564" "0" "50" "1" "228285095" "228285095" "subst" "0" "01164" "ARF1_000002" "g.228285095C>G" "" "" "" "" "ACMG: PS2_MOD, PM2_SUP, PP2, PP3; confirmed de novo in trio exome" "De novo" "-" "" "" "" "" "g.228097394C>G" "" "VUS (!)" "ACMG" "0000923092" "0" "50" "1" "228285553" "228285553" "subst" "0" "02325" "ARF1_000003" "g.228285553G>T" "" "" "" "ARF1(NM_001024226.2):c.385G>T (p.D129Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000940083" "0" "90" "1" "228284918" "228284918" "subst" "0" "00006" "ARF1_000004" "g.228284918T>C" "" "{PMID:Ge 2016:28868155}" "" "" "" "De novo" "" "" "0" "" "" "g.228097217T>C" "" "pathogenic (dominant)" "" "0000940084" "0" "90" "1" "228285411" "228285411" "subst" "0" "00006" "ARF1_000005" "g.228285411A>G" "" "{PMID:Ge 2016:28868155}" "" "" "" "De novo" "" "" "0" "" "" "g.228097710A>G" "" "pathogenic (dominant)" "" "0000940085" "0" "90" "1" "228285328" "228285328" "subst" "0" "00006" "ARF1_000001" "g.228285328G>A" "" "{PMID:Ge 2016:28868155}, {PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097627G>A" "" "pathogenic (dominant)" "" "0000940086" "0" "90" "1" "228284870" "228284870" "subst" "0" "00006" "ARF1_000007" "g.228284870C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097169C>T" "" "pathogenic (dominant)" "" "0000940087" "0" "90" "1" "228284870" "228284870" "subst" "0" "00006" "ARF1_000007" "g.228284870C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097169C>T" "" "pathogenic (dominant)" "" "0000940088" "0" "90" "1" "228284918" "228284918" "subst" "0" "00006" "ARF1_000008" "g.228284918T>G" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097217T>G" "" "pathogenic (dominant)" "" "0000940089" "0" "90" "1" "228284958" "228284958" "subst" "0" "00006" "ARF1_000009" "g.228284958C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097257C>T" "" "pathogenic (dominant)" "" "0000940090" "0" "90" "1" "228285045" "228285045" "subst" "0" "00006" "ARF1_000010" "g.228285045T>C" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097344T>C" "" "pathogenic (dominant)" "" "0000940091" "0" "90" "1" "228285047" "228285047" "subst" "0" "00006" "ARF1_000011" "g.228285047C>A" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097346C>A" "" "pathogenic (dominant)" "" "0000940092" "0" "90" "1" "228285108" "228285108" "del" "0" "00006" "ARF1_000012" "g.228285108del" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097407del" "" "pathogenic (dominant)" "" "0000940093" "0" "90" "1" "228285310" "228285310" "subst" "0" "00006" "ARF1_000013" "g.228285310A>G" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097609A>G" "" "pathogenic (dominant)" "" "0000940094" "0" "90" "1" "228285327" "228285327" "subst" "0" "00006" "ARF1_000014" "g.228285327C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.228097626C>T" "" "pathogenic" "" "0000940095" "0" "90" "1" "228285328" "228285328" "subst" "0" "00006" "ARF1_000001" "g.228285328G>A" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097627G>A" "" "pathogenic (dominant)" "" "0000940096" "0" "90" "1" "228285328" "228285328" "subst" "0" "00006" "ARF1_000001" "g.228285328G>A" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097627G>A" "" "pathogenic (dominant)" "" "0000940097" "0" "90" "1" "228285328" "228285328" "subst" "0" "00006" "ARF1_000001" "g.228285328G>A" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097627G>A" "" "pathogenic (dominant)" "" "0000940098" "0" "90" "1" "228285328" "228285328" "subst" "0" "00006" "ARF1_000001" "g.228285328G>A" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097627G>A" "" "pathogenic (dominant)" "" "0000940099" "0" "90" "1" "228285411" "228285411" "subst" "0" "00006" "ARF1_000005" "g.228285411A>G" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097710A>G" "" "pathogenic (dominant)" "" "0000940100" "0" "90" "1" "228285417" "228285417" "subst" "0" "00006" "ARF1_000006" "g.228285417G>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097716G>T" "" "pathogenic (dominant)" "" "0000940101" "0" "90" "1" "228285560" "228285560" "subst" "0" "00006" "ARF1_000015" "g.228285560C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097859C>T" "" "pathogenic (dominant)" "" "0000940102" "0" "90" "1" "228285560" "228285560" "subst" "0" "00006" "ARF1_000015" "g.228285560C>T" "" "{PMID:de Sainte Agathe 2023:37185208}" "" "" "" "De novo" "" "" "0" "" "" "g.228097859C>T" "" "pathogenic (dominant)" "" "0000990916" "0" "50" "1" "228284834" "228284835" "del" "0" "01804" "C1orf35_000002" "g.228284834_228284835del" "" "" "" "ARF1(NM_001658.3):c.19_20delAA (p.(Asn7fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031771" "0" "30" "1" "228284970" "228284970" "subst" "0" "01804" "C1orf35_000003" "g.228284970T>G" "" "" "" "ARF1(NM_001658.4):c.148+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ARF1 ## Count = 27 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000260156" "00025870" "50" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000272246" "00025870" "50" "5744" "0" "5744" "0" "c.*5198C>A" "r.(=)" "p.(=)" "" "0000505752" "00025870" "50" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000877564" "00025870" "50" "201" "0" "201" "0" "c.201C>G" "r.(?)" "p.(Asp67Glu)" "2" "0000923092" "00025870" "50" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "" "0000940083" "00025870" "90" "103" "0" "103" "0" "c.103T>C" "r.(?)" "p.(Tyr35His)" "" "0000940084" "00025870" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Lys127Glu)" "" "0000940085" "00025870" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000940086" "00025870" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Cys)" "" "0000940087" "00025870" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Cys)" "" "0000940088" "00025870" "90" "103" "0" "103" "0" "c.103T>G" "r.(?)" "p.(Tyr35Asp)" "" "0000940089" "00025870" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Thr48Ile)" "" "0000940090" "00025870" "90" "151" "0" "151" "0" "c.151T>C" "r.(?)" "p.(Phe51Leu)" "" "0000940091" "00025870" "90" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.(Phe51Leu)" "" "0000940092" "00025870" "90" "214" "0" "214" "0" "c.214del" "r.(?)" "p.(Asp72ThrfsTer17)" "" "0000940093" "00025870" "90" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Asp93Gly)" "" "0000940094" "00025870" "90" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Cys)" "" "0000940095" "00025870" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000940096" "00025870" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000940097" "00025870" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000940098" "00025870" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000940099" "00025870" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Lys127Glu)" "" "0000940100" "00025870" "90" "384" "1" "384" "1" "c.384+1G>T" "r.384_385ins[u;384+2_384+27]" "p.Gln128_Asp129insFGARASLGN" "" "0000940101" "00025870" "90" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "" "0000940102" "00025870" "90" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "" "0000990916" "00025870" "50" "19" "0" "20" "0" "c.19_20del" "r.(?)" "p.(Asn7Profs*31)" "" "0001031771" "00025870" "30" "148" "7" "148" "7" "c.148+7T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000417832" "0000877564" "0000442093" "0000940083" "0000442094" "0000940084" "0000442095" "0000940085" "0000442096" "0000940086" "0000442097" "0000940087" "0000442098" "0000940088" "0000442099" "0000940089" "0000442100" "0000940090" "0000442101" "0000940091" "0000442102" "0000940092" "0000442103" "0000940093" "0000442104" "0000940094" "0000442105" "0000940095" "0000442106" "0000940096" "0000442107" "0000940097" "0000442108" "0000940098" "0000442109" "0000940099" "0000442110" "0000940100" "0000442111" "0000940101" "0000442112" "0000940102"