### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PUS3) # 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}}" "PUS3" "pseudouridylate synthase 3" "11" "q24.2" "unknown" "NG_033067.1" "UD_132319547755" "" "https://www.LOVD.nl/PUS3" "" "1" "25461" "83480" "616283" "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/PUS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-24 12:30:10" "00006" "2025-09-09 10:41:20" ## 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}}" "00017195" "PUS3" "pseudouridylate synthase 3" "001" "NM_031307.3" "" "NP_112597.3" "" "" "" "-98" "1746" "1446" "125773116" "125763380" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06111" "NEDMIGS;MRT55" "neurodevelopmental disorder with microcephaly and gray sclerae" "AR" "617051" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-02-24 12:37:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PUS3" "00139" "PUS3" "06111" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00269892" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00403827" "" "" "" "1" "" "00006" "{PMID:Abdelrahman 2018:30308082}, {PMID:Nostvik 2021:34415064}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Palestine" "" "0" "" "" "" "patient;FamMPat15" "00403828" "" "" "" "2" "" "00006" "{PMID:Froukh 2020:32056211}, {PMID:Nostvik 2021:34415064}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Jordan" "" "0" "" "" "" "FamTF046Pat1;FamNPat16" "00403829" "" "" "" "3" "" "00006" "{PMID:Shaheen 2016:27055666}, {PMID:Nostvik 2021:34415064}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat1;FamPPat19" "00403831" "" "" "" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "FamAPat1" "00403832" "" "" "" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "FamBPat2" "00403833" "" "" "" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "FamCPat3" "00403834" "" "" "" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "FamDPat4" "00403835" "" "" "" "2" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "FamEPat5" "00403836" "" "" "00403835" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "brother" "M" "no" "" "" "0" "" "" "" "FamEPat6" "00403837" "" "" "" "1" "" "00006" "{PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "FamFPat7" "00403838" "" "" "" "2" "" "00006" "Gulkovsky 2015 Biopolym Cell 31:123, {PMID:Nostvik 2021:34415064}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Ukraine" "" "0" "" "" "" "?;FamGPat8" "00403839" "" "" "00403838" "1" "" "00006" "Gulkovsky 2015 Biopolym Cell 31:123, {PMID:Nostvik 2021:34415064}" "brother" "M" "no" "Ukraine" "" "0" "" "" "" "?;FamGPat9" "00403840" "" "" "" "1" "" "00006" "{PMID:Fang 2020:31444731}, {PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "?;FamHPat10" "00403841" "" "" "" "4" "" "00006" "{PMID:Guo 2020:31680349}, {PMID:Nostvik 2021:34415064}" "2-generation family, 4 affected fetuses (2F, 2M), unaffected heterozygous carrier parents" "F;M" "no" "China" "" "0" "" "" "" "Fam10;FamJPat11" "00403842" "" "" "" "1" "" "00006" "{PMID:Aldinger 2019:31474318} , {PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "?;FamKPat12" "00403843" "" "" "" "2" "" "00006" "{PMID:Brandao de Paiva 2019:30697592}, {PMID:Nostvik 2021:34415064}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Brazil" "" "0" "" "" "" "?;FamLPat13" "00403844" "" "" "00403843" "1" "" "00006" "{PMID:Brandao de Paiva 2019:30697592}, {PMID:Nostvik 2021:34415064}" "sister" "F" "no" "Brazil" "" "0" "" "" "" "?;FamLPat14" "00403845" "" "" "00403828" "1" "" "00006" "{PMID:Froukh 2020:32056211}, {PMID:Nostvik 2021:34415064}" "sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamTF046Pat2;FamNPat17" "00403846" "" "" "" "1" "" "00006" "{PMID:Alfares 2017:28454995}, {PMID:Nostvik 2021:34415064}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat121;FamOPat18" "00403847" "" "" "00403829" "1" "" "00006" "{PMID:Shaheen 2016:27055666}, {PMID:Nostvik 2021:34415064}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat2;FamPPat20" "00403848" "" "" "00403829" "1" "" "00006" "{PMID:Shaheen 2016:27055666}, {PMID:Nostvik 2021:34415064}" "sister" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat3;FamPPat21" "00413076" "" "" "" "2" "" "02373" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "2-generation familly, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Poland" ">12y" "0" "" "" "white" "Pat1" "00413230" "" "" "" "1" "" "02373" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "2-generation familly, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Poland" ">11y" "0" "" "" "white" "Pat3" "00413320" "" "" "" "1" "" "02373" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" ">09y" "0" "" "" "" "Pat2" "00466063" "" "" "" "1" "" "00006" "{PMID:Borghesi 2022:34713961}, {DOI:Borghesi 2022:10.1002/ajmg.a.62547}" "5-generation family, 1 affected, unaffected heterozygous carrier second cousins parents/relatives" "F" "yes" "Italy" "00y00m43d" "0" "" "" "Senegal" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00269892" "00198" "00403827" "00139" "00403828" "05611" "00403829" "00139" "00403831" "05611" "00403832" "05611" "00403833" "05611" "00403834" "05611" "00403835" "05611" "00403836" "05611" "00403837" "05611" "00403838" "05611" "00403839" "05611" "00403840" "05611" "00403841" "05611" "00403842" "05611" "00403843" "05611" "00403844" "05611" "00403845" "05611" "00403846" "05611" "00403847" "05611" "00403848" "05611" "00413076" "00198" "00413230" "00198" "00413320" "00198" "00466063" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06111 ## Count = 26 "{{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}}" "0000207688" "00198" "00269892" "01807" "Unknown" "" "Profound global developmental delay (HP:0012736); Seizures (HP:0001250); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Inability to walk (HP:0002540); Abnormal visual fixation (HP:0025404); Dysphagia (HP:0002015); Patent ductus arteriosus (HP:0001643); Scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "" "" "0000296508" "00139" "00403827" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., normal vaginal delivery at term, birth weight 3175g; OFC31.5 cm; weight 13 kg (3rd percentile), height 98 cm (40th percentile), OFC 46.5 cm (<3rd percentile); global developmental delay, failure to thrive; 3y-smiles; 4y-roll; 2y6m-head control; 4y-no sit; not walking; global developmental delay; central, generalized and severe hypotonia; increased deep tendon reflexes (+3); 2y-seizure disorder, tonic episodes, changes to atonic episodes with cyanosis; MRI brain 2y dilated lateral ventricles, multiple areas of brain atrophy, thin corpus callosum; not fixing or following with positive pupillary respons; impaired vision/vision loss; sensorineural hearing loss on left ear; mild dysmorphism, coarse facial features; nystagmus until 1.5y" "" "" "" "" "" "" "" "" "NEDMIGS" "intellectual disability" "" "0000296509" "05611" "00403828" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., short, microcephaly; profound global developmental delay; not walking; severe intellectual disability, profound global developmental delay; muscular hypotonia; epilepsy; abnormal visual fixation; dysmorphism; gray sclera; scoliosis; Patent ductus arteriosus, Dysphagia" "" "" "" "" "" "" "" "" "NEDMIGS" "neurodevelopmental delay" "" "0000296510" "00139" "00403829" "00006" "Familial, autosomal recessive" "15y06m" "see paper; ...,normal birth growth parameters; weight 21 kg (-7.5 SD), height 124 cm (-5.9 SD)50.5 cm (<3rd percentile); global developmental delay, failure to thirve, severe growth deficiency; ambulates with assistance; severe intellectual disability; IQ30; 10m-epilepsy; MRI brain mild ventriculomegaly, multiple arachnoid cysts in the middle cranial fossae bilaterally and the right cerebellopontine angle with the largest in the right middle cranial fossa (5.0 x 3.0 cm, casuses mild mass effect on the right temporal lobe). Volume loss in the frontal lobes anteriorly, multiple T2/FLAIR white matter signal abnormalities in the subcortical white matter.; negative urine organic acids and GAGs, Tandem MS, plasma lactate, uric acid, lipid profile; extensive mongolian spots skin; dysmorphism, coarse facial features; bilateral strabismus, gray sclera" "" "" "" "" "" "" "" "" "NEDMIGS" "syndromic intellectual disability" "" "0000296511" "05611" "00403831" "00006" "Familial, autosomal recessive" "23y" "uchal cord, altered fetal heart rate, bradycardia during fetal delivery (arround 10min), birth 40w, length 48cm, weight 2840g; OFC35 cm; weight 40.7 kg (< 3rd percentile), height 149 cm (< 3rd percentile), OFC 51 cm (< 3rd percentile); delayed motor development; smile to comunicate; never walked; no speech, smile and babble to communicate ; no regression; severe intellectual disability; IQ not assessable; minimally conscious state; axial hypotonia (congenital); 12y-spastic quadriplegia; 1.5m-epilepsy, infantile spasms, tonic seizures (6-10/day, trigger shower, emotive state, discomfort state; EEG generalized spike and slow waves; normal sleep; MRI brain 16y-cerebellar and frontal global atrophy and corpus callosum splenium hypotrophy, CT scan 22y-no obvious change; normal abdominal ultrasound; petechia on legs with 1 hypopigmented spot ; no dysmorphism; osteopenia, severe scoliosis with arthrodesis ; inferior and superior limb and elbow retractions ; Megaloblastic anemia persistent under folate supplementation , Wolf Parkinson white syndrome, COPD, drooling patient under scopoderm, fed by gastrostomia (nothing through per os); Supraventricular tachycardia under cordarone treatment, Disease progression stable" "" "" "" "" "" "" "" "" "NEDMIGS" "neurodevelopmental delay" "" "0000296512" "05611" "00403832" "00006" "Familial, autosomal recessive" "24y" "normal pregnancy and birth, birth 40+2w, length 53 cm, weight 4265 g; weight 40 kg (< 3rd percentile), height 142 cm (< 3rd percentile), OFC 51 cm (< 3rd percentile); delayed motor development; rarely smiles; 9m-roll; 24m-sit; 3y-walk, still short distance; 9m-speech, 3y-lost babling and few words; regression; severe intellectual disability; IQ not assessable; screaming; hypotonia (no improvement with age); no ataxia; normal reflexes; poor balance, idiopatic orofacial dystonia; 4y-epilepsy, focal seizures, atypical absences, GTCS (2-3/m), trigger stress, bright lights; EEG multifocal discharges; normal sleep; MRI brain 20y-central and cortical atrophy, lack of white substans, thin corpus callosum; normal abdominal ultrasound; cerebral visual impairment; mild hearing loss; dysmorphism; hypertelorism; small sharp nose; retrognathia; joint laxity; mild scoliosis, likely due to immobility; normal hands/feet; Increased pain treshold, Unmotivated laughting, Hypersalivatio, Disease progression is stable" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296513" "05611" "00403833" "00006" "Familial, autosomal recessive" "15y" "normal pregnancy and birth, birth 40w, weight 3800g; weight 48.3 kg (25th percentile), height 127 cm (< 3rd percentile), OFC 55 cm (50th percentile); delayed motor development; rarely smiles; roll delayed; 1y5m-sit; 23m-walk; 14m-speech; no regression; intellectual disability; IQ not assessable; mild autism (DSM-IV score 95); sometimes aggressive behavior; mild hypotonia (no improvement with age); no ataxia; normal fine reflexes; balance issue, can not walk without aid; 22-23m-epilepsy, generalized tonic seizures (1/m), trigger headache; EEG normal; normal sleep; MRI brain normal; microcytic anemia; normal vision; no hearing loss; normal skin; mild dysmorphism; normal sclera, mild hypertelorism; normal nose; normal philtrum; normal mouth; normal lips; normal jaw; normal palate; normal chin; low-set ears; unremarkable joint laxity; scoliosis; unremarkable hands/feet; Disease progression is stable" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296514" "05611" "00403834" "00006" "Familial, autosomal recessive" "8y" "normal pregnancy and birth, birth 40w, weight 3400g; weight 20 kg (3rd percentile), height 114 cm (< 3rd percentile), OFC 50 cm (3rd percentile); delayed motor development; 1y-sit; 3y-walk; after 4y-speech, 8y-single words; no regression; moderate intellectual disability; IQ not assessable; autism; fearful; no hypotonia; no ataxia, clumsiness; normal reflexes; 6y5m-epilepsy, 7y-GTCS/seizure fre; EEG normal; normal sleep; MRI brain normal; normal vision; no hearing loss; normal skin; dysmorphism; downslanting, epicanthus; short nose; smooth philtrum; small mouth; no joint laxity; no skeletal problems; normal hands/feet;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296515" "05611" "00403835" "00006" "Familial, autosomal recessive" "16y" "normal pregnancy and birth, birth 37w, weight 2900g; weight 70 kg (75th percentile) , height 170 cm (43th percentile) , OFC 54 cm (25th percentile); delayed motor development; 2m-smile; 3m-head control; 10m-sit; 20m-walk; 18m-speech, 5y-impaired speech; no regression; moderate intellectual disability; IQ58 (WISC-IV); mild autism (CARS); anxiety disorder; mild hypotonia (improved with age); clumsiness, ataxia; Increased reflexes; no epilepsy; EEG normal; normal sleep; normal vision; cholesteatoma right ear; mild dysmorphism; downslanting, epicanthus; low-set ears; no joint laxity; scoliosis; Not reported; Nocturnal enuresis, Disease progression is stable" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296516" "05611" "00403836" "00006" "Familial, autosomal recessive" "14y" "normal pregnancy and birth, birth 40w, weight 3400g; weight 60 kg (75 percentile) , height 165 cm (56th percentile) , OFC 56 cm (75-90th percentile); delayed motor development; 2m-smile; 9m-roll; 4m-head control; 12m-sit; 20m-walk; 24m-speech, 7y-impaired speech; no regression; moderate-severe intellectual disability; IQ49 (WISC-IV); mild autism (CARS); hyperactivity and attention disorder; mild hypotonia (improved with age); no ataxia; normal reflexes; tic and mannerism; no epilepsy; EEG dysrhythmic background and generalized spike-waves; normal sleep; metabolic tests (urine organic acids, lipid profile, aminoacids in blood and urine, plasma lactate); hypermetrophia, astigmatism; no hearing loss; mild dysmorphism; downslanting, epicanthus; low-set ears; no joint laxity; scoliosis; Not reported; Disease progression is stable" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296517" "05611" "00403837" "00006" "Familial, autosomal recessive" "10y" "normal vaginal delivery, birth 38+3w, length 47 cmcm, weight 3070g; OFC31 cm; weight 38.2 kg (39 percentile), height 138 cm (50 percentile), OFC 53 cm (50 percentile); global developmental delay; 6m-roll; 22m-sit; 3y-walk; 3y-speech, three-word sentences; moderate intellectual disability; IQ50 (SON-R); sometimes autoagressive behaviour (bites his hands), enuresis nocturna; 1-2y-pronounced muscle hypotonia noticeable; 6y-muscle normal; last presentation, no marked muscle hypotonia; no epilepsy; EEG normal; normal sleep; MRI brain 2w-unremarkable; normal routine blood tests; strabism; no hearing loss; dysmorphism; mild hypertelorism, blue sclera, line, sparse lateral eyebrow; full lips; no scoliosis; flat-footed; PDA, PFO, multiple aortopulmonary collateral arteries (MAPCAs), Sagittal craniosynostosis, There has been no disease progression in recent years" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296518" "05611" "00403838" "00006" "Familial, autosomal recessive" "5y" "abnormal pregnancy early gestosis, low birth labor activity, birth 40w, length 56cm, weight 4000g; weight 14 kg (3rd percentile), height 110 cm (50th percentile), OFC 49 cm (3rd percentile), brachicephaly; from birth delayed motor development; 1m-head control; not sitting; 2y2m-walk; no speech; regression; moderate-severe developmental delay; IQ43 (WISC); no autism; attention disorder; hypertonia of upper limbs S>D; ataxia; increased reflexes, asymmetry, Babinsky syndrome on both sides; dystonia of leg muscles last year; 22m-epilepsy, myoclonic seizures, seizure free since 1.5m, trigger fever; EEG normal; normal sleep; MRI brain hypoplasia corpus callosum, moderate to severe periventricular leukomalaci as a consequence of hypoxic ischemic brain injury; normal routine blood tests; normal vision; no hearing loss; normal skin; mild dysmorphism; eastern strabismus; normal nose; normal philtrum; normal mouth; normal lips; normal jaw; gotic palate; normal chin; dysmorphic ears; hypermobility joints; flat-footed; Ultrasound of internal organs normal; metabolites blood was not detected, disease slowly worsened until 14y, after which it stabilized without any syndromic disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296519" "05611" "00403839" "00006" "Familial, autosomal recessive" "13y" "18w-19w threat of termination pregnancy, polyhydramnios, immune conflict for AB0, low birth labor activity, meconium, birth 40w, length 58cm, weight 3700g; weight 34.5 kg (10th percentile), height 144.5 cm (10th percentile), OFC 54 cm (25-50th percentile), dolicocephaly; delayed motor development; 4m-head control; 1y2m-sit; 2y2m-walk; 9y-lost babling and few words; regression; moderate developmental delay; IQ50 (WISC-IV); no autism; screaming 1-2 words without any connection, attention disorder; no hypotonia; no ataxia; normal reflexes; epilepsy; EEG normal; normal sleep; MRI brain changes white matter of the frontal and parietal lobes mostly of dysmyelogenous nature; ultrasonic cardiography showed patent foramen ovale; normal blood and urin tests; normal vision; no hearing loss; normal skin; mild dysmorphism; antimongoloid, hypertelorism; high nose spine; normal philtrum; normal mouth; narrow lips; prognathism; gotic palate; normal chin; dysmorphic ears; hypermobility joints; 13y-severe thoracolumbar scoliosis; separated middle and index finger; The content of metabolites in the blood was not detected; Acetonemic syndrome, The disease slowly worsened until 14y, after which it stabilized without any syndromic disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296520" "05611" "00403840" "00006" "Familial, autosomal recessive" "8m" "normal pregnancy, birth full-term with vaginal delivery; weight 11.2 kg (95th percentile), OFC 39.5(< 3rd percentile); mild delayed motor development; 8m-no head control; 13m-sit; 13m-speech; 8m-admitted to hospital recurrent convulsions, epileptic encephalopathy with recurrent episodes convulsion with motion arrest with staring lasting for seconds, 13m-seizures 1/m, trigger often fever; EEG slow background rhythm; MRI brain 1m-dilated cisterna magna and bilateral frontotemporal extracerebral space.; ultrasonic cardiography showed patent foramen ovale; normal blood and urin tests; severe, bilateral hearing loss; dysmorphism; depressed nasal bridge, upturned nose; micrognathia; prominent ears; delayed bone age, middle and index finger seperated; Separated middle and index finger; Patent foramen ovale" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296521" "05611" "00403841" "00006" "Familial, autosomal recessive" "" "polyhydramnions, birth 25w; congenital anencephaly (HP:0002323); Aplasia/hypoplasia of the cerebellum (HP:0007360); Ankle contracture (HP:0006466); Abnormal heart morphology (HP:0001627); Polyhydramnios (HP:0001561)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296522" "05611" "00403842" "00006" "Familial, autosomal recessive" "2y" "intellectual disability; MRI brain Dandy-Walker malformation, hydrocephalus;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296523" "05611" "00403843" "00006" "Familial, autosomal recessive" "44y" "weight on the 10th centile, height 10th centile, OFC 10th centile; motor development independent in basic activity of daily living; impaired gait and balance; profound intellectual disability; pseudobulbar affect, 44y-psychosis with prominent auditory and visual hallucination and episodes of agression; 18y-epilepsy, 2 focal, 18 and 23y dyscognitive seizures with secondary generalization; MRI brain white matter abnormalities, scattered T2/fluid-attenuated incersion recovery (FLAIR) hyperintensities in the cerebral white matter, most prominent in periventricular zones; dysmorphism; genu valgum; Nefropathy, asymptomatic proteinuria, dysarthria," "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296524" "05611" "00403844" "00006" "Familial, autosomal recessive" "<1d" "died at 40w; weight on the 3rd centile, height 3rd centile, OFC 3rd centile; motor development independent in basic activity of daily living; able to walk; neurodevelopmental delay; pseudobulbar affect; epilepsy; MRI brain white matter abnormalities, systemic diffuse T2/FLAIR hyperintensity in the cerebral and celebellar white matter with extension to the subcortical areas, mild T2 hyperintensity in globus pallidus bilat. And brain parenchymal volume loss.; not fixing or following with positive pupillary respons; dysmorphism; gray sclera; genu valgum; Nefropathy, dysarthria, (6m-acute nephritis, 20y-nephronic syndrome due to FSGS (steroid resistant), end-stage renal failure), 5y-coeliac disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000296525" "05611" "00403845" "00006" "Familial, autosomal recessive" "13y" "short, microcephaly; profound global developmental delay; not walking; severe intellectual disability, profound global developmental delay; muscular hypotonia; epilepsy; abnormal visual fixation; dysmorphism; gray sclera; scoliosis; Patent ductus arteriosus, Dysphagia" "" "" "" "" "" "" "" "" "NEDMIGS" "neurodevelopmental delay" "" "0000296526" "05611" "00403846" "00006" "Familial, autosomal recessive" "" "intellectual disability; negative urine organic acids and GAGs, Tandem MS, plasma lactate, uric acid, lipid profile;" "" "" "" "" "" "" "" "" "NEDMIGS" "neurodevelopmental delay" "" "0000296527" "05611" "00403847" "00006" "Familial, autosomal recessive" "12y" "normal birth growth parameters; weight 16.2 kg (-4.1 SD), height 119 cm (-4.3 SD)50 cm (< 3rd percentile); global developmental delay, failure to thirve, severe growth deficiency; severe intellectual disability; no epilepsy; MRI brain signal abnormalities within the globus pallidus, dentate nucleus bilaterally with nonspecific symmetrical hyperintensities in the frontal lobes in subcortical location. Evidence of dysgenesis of corpus callosum, mild diffuse brain atrophy and a prominent cisterna magna; widespread mongolian spots skin; dysmorphism, coarse facial features; strabismus, gray sclera;" "" "" "" "" "" "" "" "" "NEDMIGS" "neurodevelopmental delay" "" "0000296528" "05611" "00403848" "00006" "Familial, autosomal recessive" "3y6m" "weight 13 - 16th centile, height 89.5 cm (3rd percentile) 45.5 cm (< 3rd percentile); global developmental delay, failure to thirve; severe intellectual disability; IQ <20; severe axial and appendicular hypotonia with poor interactions; no epilepsy; MRI brain unremarkable apart from small arachnoid cyst seen along the anterolateral surface of the left cerebellar hemisphere in the posterior fossa; Mongolian spots skin; dysmorphism; strabismus, gray sclera;" "" "" "" "" "" "" "" "" "NEDMIGS" "pyruvate kinase deficiency" "" "0000305057" "00198" "00413076" "02373" "Familial, autosomal recessive" "" "see paper; ..." "" "08y" "" "" "" "" "" "" "NEDMIGS" "psychomotor and intellectual development disorders, speech disorders" "" "0000305211" "00198" "00413230" "02373" "Familial, autosomal recessive" "" "see paper; ..." "" "10y" "" "" "" "" "" "" "NEDMIGS" "psychomotor development delay, speech disorders, hypotony, sensory integration disorders" "" "0000305302" "00198" "00413320" "02373" "Familial, autosomal recessive" "" "see paper; ..., physical examination performed at 8 years of age showed hypotonia, a disturbing aggressive behavioral phenotype and mild facial dysmorphia. He had the first epileptic seizure at the age of 5 years, but the NMR of the brain was normal." "" "" "" "" "" "" "" "" "NEDMIGS" "delayed psychomotor, speech development and moderate degree of intellectual disability" "" "0000351448" "05611" "00466063" "00006" "Familial, autosomal recessive" "" "see paper; ..., 43d-deceased cardiorespiratory arrest related to critical stenosis pulmonary veins; decreased fetal movements, fetal growth restriction starting third trimester; 32wg-microcephaly, right-sided kidney agenesis; birth 36w+5 weight 2114 g (5th percentile), length 44 cm (5th percentile), OFC 29.5 cm (1st percentile); coarse dysmorphic features (high/prominent forehead, bilateral periorbital fullness, wide nasal bridge, large nose, thick lips), hypertelorism, bilateral epicanthal folds, anteverted nares, long philtrum, high-arched palate, low-set ears with large lobules, rocker-bottom feet; axial hypotonia, increased distal muscle tone with normal deep tendon reflexes, depressed neonatal reflexes, poor spontaneous motility; retinal dystrophy, cerebellar hypoplasia, congenital heart defect, right kidney hypoplasia" "" "" "" "" "" "" "" "" "NEDMIGS" "fetal growth restriction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000271045" "00269892" "1" "01807" "01807" "2019-12-10 12:31:53" "" "" "SEQ" "DNA" "" "" "0000405065" "00403827" "1" "00006" "00006" "2022-02-24 12:38:33" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000405066" "00403828" "1" "00006" "00006" "2022-02-24 12:45:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000405067" "00403829" "1" "00006" "00006" "2022-02-24 12:52:26" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000405068" "00403831" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405069" "00403832" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405070" "00403833" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405071" "00403834" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405072" "00403835" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405073" "00403836" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405074" "00403837" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405075" "00403838" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405076" "00403839" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405077" "00403840" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405078" "00403841" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405079" "00403842" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405080" "00403843" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405081" "00403844" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405082" "00403845" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405083" "00403846" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405084" "00403847" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405085" "00403848" "1" "00006" "00006" "2022-02-24 15:46:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414347" "00413076" "1" "02373" "02373" "2022-07-11 12:13:11" "" "" "SEQ-NG-I" "DNA" "peripheral blood (DNA)" "WES (TRIO)" "0000414502" "00413230" "1" "02373" "02373" "2022-07-12 16:04:19" "" "" "SEQ-NG-I" "DNA" "peripheral blood (DNA)" "WES (TRIO)" "0000414593" "00413320" "1" "02373" "02373" "2022-07-15 01:23:41" "" "" "?" "DNA" "" "" "0000467717" "00466063" "1" "00006" "00006" "2025-07-23 10:06:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 58 "{{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}}" "0000297515" "0" "10" "11" "125769354" "125769354" "subst" "0.280245" "02325" "HYLS1_000002" "g.125769354T>C" "" "" "" "HYLS1(NM_001134793.2):c.91T>C (p.C31R), PUS3(NM_031307.4):c.-46-3129A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.125899459T>C" "" "benign" "" "0000542896" "0" "50" "11" "125769318" "125769318" "subst" "8.5282E-5" "01943" "HYLS1_000005" "g.125769318C>T" "" "" "" "HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125899423C>T" "" "VUS" "" "0000542897" "0" "30" "11" "125773062" "125773062" "subst" "0" "01804" "HYLS1_000006" "g.125773062T>C" "" "" "" "PUS3(NM_001271985.1):c.-247+3A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125903167T>C" "" "likely benign" "" "0000542898" "0" "30" "11" "125775498" "125775498" "subst" "2.62809E-5" "01804" "HYLS1_000007" "g.125775498A>G" "" "" "" "DDX25(NM_013264.4):c.175+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125905603A>G" "" "likely benign" "" "0000624893" "3" "70" "11" "125763946" "125763947" "del" "0" "01807" "PUS3_000001" "g.125763946_125763947del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.125894051_125894052del" "" "likely pathogenic" "" "0000656733" "0" "10" "11" "125769731" "125769731" "subst" "0.00227487" "01943" "HYLS1_000008" "g.125769731A>G" "" "" "" "HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.125899836A>G" "" "benign" "" "0000804977" "0" "30" "11" "125761378" "125761378" "subst" "0" "02326" "HYLS1_000009" "g.125761378G>A" "" "" "" "HYLS1(NM_145014.2):c.-81+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804978" "0" "30" "11" "125761394" "125761395" "dup" "0" "02326" "HYLS1_000010" "g.125761394_125761395dup" "" "" "" "HYLS1(NM_145014.2):c.-81+26_-81+27dupAA, HYLS1(NM_145014.2):c.-81+27_-81+28dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804979" "0" "30" "11" "125761395" "125761395" "dup" "0" "02326" "HYLS1_000011" "g.125761395dup" "" "" "" "HYLS1(NM_145014.2):c.-81+28dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841116" "3" "90" "11" "125763946" "125763947" "del" "0" "00006" "PUS3_000001" "g.125763946_125763947del" "" "{PMID:Abdelrahman 2018:30308082}" "" "1181_1182delCT" "" "Germline" "" "" "0" "" "" "g.125894051_125894052del" "" "pathogenic (recessive)" "" "0000841117" "3" "90" "11" "125763946" "125763947" "del" "0" "00006" "PUS3_000001" "g.125763946_125763947del" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125894051_125894052del" "" "pathogenic (recessive)" "" "0000841118" "3" "90" "11" "125763823" "125763823" "subst" "1.2183E-5" "00006" "PUS3_000002" "g.125763823G>A" "" "{PMID:Shaheen 2016:27055666}" "" "" "not in 1500 controls" "Germline" "yes" "" "0" "" "" "g.125893928G>A" "" "pathogenic (recessive)" "" "0000841119" "1" "90" "11" "125773062" "125773062" "subst" "0" "00006" "HYLS1_000006" "g.125773062T>C" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125903167T>C" "" "pathogenic (recessive)" "" "0000841120" "1" "90" "11" "125766177" "125766177" "subst" "8.17942E-6" "00006" "PUS3_000016" "g.125766177C>G" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896282C>G" "" "pathogenic (recessive)" "" "0000841121" "3" "90" "11" "125766118" "125766118" "subst" "0" "00006" "PUS3_000014" "g.125766118A>C" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896223A>C" "" "pathogenic (recessive)" "" "0000841122" "1" "90" "11" "125765968" "125765968" "subst" "6.49757E-5" "00006" "PUS3_000013" "g.125765968T>C" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896073T>C" "" "pathogenic (recessive)" "" "0000841123" "1" "90" "11" "125765624" "125765628" "del" "0" "00006" "PUS3_000011" "g.125765624_125765628del" "" "{PMID:Nostvik 2021:34415064}" "" "c.438_442delTGTAA" "" "Germline" "" "" "0" "" "" "g.125895729_125895733del" "" "pathogenic (recessive)" "" "0000841124" "1" "90" "11" "125765624" "125765628" "del" "0" "00006" "PUS3_000011" "g.125765624_125765628del" "" "{PMID:Nostvik 2021:34415064}" "" "c.438_442delTGTAA" "" "Germline" "" "" "0" "" "" "g.125895729_125895733del" "" "pathogenic (recessive)" "" "0000841125" "1" "90" "11" "125765485" "125765485" "subst" "1.22899E-5" "00006" "PUS3_000007" "g.125765485C>T" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895590C>T" "" "pathogenic (recessive)" "" "0000841126" "3" "90" "11" "125765968" "125765968" "subst" "6.49757E-5" "00006" "PUS3_000013" "g.125765968T>C" "" "Gulkovsky 2015 Biopolym Cell 31:123, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896073T>C" "" "pathogenic (recessive)" "" "0000841127" "3" "90" "11" "125765968" "125765968" "subst" "6.49757E-5" "00006" "PUS3_000013" "g.125765968T>C" "" "Gulkovsky 2015 Biopolym Cell 31:123, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896073T>C" "" "pathogenic (recessive)" "" "0000841128" "1" "90" "11" "125766125" "125766125" "subst" "8.12717E-6" "00006" "PUS3_000015" "g.125766125G>A" "" "{PMID:Fang 2020:31444731}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125896230G>A" "" "pathogenic (recessive)" "" "0000841129" "1" "90" "11" "125765840" "125765840" "subst" "8.1279E-6" "00006" "PUS3_000012" "g.125765840A>G" "" "{PMID:Guo 2020:31680349}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895945A>G" "" "pathogenic (recessive)" "" "0000841130" "1" "90" "11" "125765566" "125765566" "subst" "2.46103E-5" "00006" "PUS3_000009" "g.125765566C>T" "" "{PMID:Aldinger 2019:31474318} , {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895671C>T" "" "pathogenic (recessive)" "" "0000841131" "1" "90" "11" "125765566" "125765566" "subst" "2.46103E-5" "00006" "PUS3_000009" "g.125765566C>T" "" "{PMID:Brandao de Paiva 2019:30697592}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895671C>T" "" "pathogenic (recessive)" "" "0000841132" "1" "90" "11" "125765566" "125765566" "subst" "2.46103E-5" "00006" "PUS3_000009" "g.125765566C>T" "" "{PMID:Brandao de Paiva 2019:30697592}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895671C>T" "" "pathogenic (recessive)" "" "0000841133" "3" "90" "11" "125763946" "125763947" "del" "0" "00006" "PUS3_000001" "g.125763946_125763947del" "" "{PMID:Froukh 2020:32056211}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125894051_125894052del" "" "pathogenic (recessive)" "" "0000841134" "3" "90" "11" "125763823" "125763823" "subst" "1.2183E-5" "00006" "PUS3_000002" "g.125763823G>A" "" "{PMID:Alfares 2017:28454995}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "rs774005569" "0" "" "" "g.125893928G>A" "" "pathogenic (recessive)" "" "0000841135" "3" "90" "11" "125763823" "125763823" "subst" "1.2183E-5" "00006" "PUS3_000002" "g.125763823G>A" "" "{PMID:Shaheen 2016:27055666}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125893928G>A" "" "pathogenic (recessive)" "" "0000841136" "3" "90" "11" "125763823" "125763823" "subst" "1.2183E-5" "00006" "PUS3_000002" "g.125763823G>A" "" "{PMID:Shaheen 2016:27055666}, {PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125893928G>A" "" "pathogenic (recessive)" "" "0000841137" "2" "90" "11" "125765584" "125765584" "dup" "0" "00006" "PUS3_000010" "g.125765584dup" "" "{PMID:Nostvik 2021:34415064}" "" "c.479dupA" "" "Germline" "" "" "0" "" "" "g.125895689dup" "" "pathogenic (recessive)" "" "0000841138" "2" "90" "11" "125765485" "125765485" "subst" "1.22899E-5" "00006" "PUS3_000007" "g.125765485C>T" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895590C>T" "" "pathogenic (recessive)" "" "0000841139" "2" "90" "11" "125765494" "125765494" "subst" "5.73559E-5" "00006" "PUS3_000008" "g.125765494C>T" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895599C>T" "" "pathogenic (recessive)" "" "0000841140" "2" "90" "11" "125765228" "125765228" "subst" "0" "00006" "PUS3_000005" "g.125765228C>A" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895333C>A" "" "pathogenic (recessive)" "" "0000841141" "2" "90" "11" "125765228" "125765228" "subst" "0" "00006" "PUS3_000005" "g.125765228C>A" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895333C>A" "" "pathogenic (recessive)" "" "0000841142" "2" "90" "11" "125765494" "125765494" "subst" "5.73559E-5" "00006" "PUS3_000008" "g.125765494C>T" "" "{PMID:Nostvik 2021:34415064}" "" "" "" "Germline" "" "" "0" "" "" "g.125895599C>T" "" "pathogenic (recessive)" "" "0000841143" "2" "90" "11" "125765443" "125765443" "dup" "0" "00006" "PUS3_000006" "g.125765443dup" "" "{PMID:Fang 2020:31444731}" "" "c.620dupT" "" "Germline" "" "" "0" "" "" "g.125895548dup" "" "pathogenic (recessive)" "" "0000841144" "2" "90" "11" "125765225" "125765225" "subst" "1.62528E-5" "00006" "PUS3_000004" "g.125765225G>A" "" "{PMID:Guo 2020:31680349}" "" "" "" "Germline" "" "" "0" "" "" "g.125895330G>A" "" "pathogenic (recessive)" "" "0000841145" "2" "90" "11" "125765485" "125765485" "subst" "1.22899E-5" "00006" "PUS3_000007" "g.125765485C>T" "" "{PMID:Aldinger 2019:31474318}" "" "" "" "Germline" "" "" "0" "" "" "g.125895590C>T" "" "pathogenic (recessive)" "" "0000841146" "2" "90" "11" "125764029" "125764029" "subst" "8.12262E-6" "00006" "PUS3_000003" "g.125764029A>G" "" "{PMID:Brandao de Paiva 2019:30697592}" "" "" "" "Germline" "" "" "0" "" "" "g.125894134A>G" "" "pathogenic (recessive)" "" "0000841147" "2" "90" "11" "125764029" "125764029" "subst" "8.12262E-6" "00006" "PUS3_000003" "g.125764029A>G" "" "{PMID:Brandao de Paiva 2019:30697592}" "" "" "" "Germline" "" "" "0" "" "" "g.125894134A>G" "" "pathogenic (recessive)" "" "0000852798" "0" "10" "11" "125769536" "125769536" "subst" "0.00210794" "02326" "HYLS1_000012" "g.125769536G>T" "" "" "" "HYLS1(NM_145014.2):c.273G>T (p.K91N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000871998" "3" "70" "11" "125765968" "125765968" "subst" "6.49757E-5" "02373" "PUS3_000013" "g.125765968T>C" "0,0000394" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125896073T>C" "" "VUS" "other" "0000872182" "21" "70" "11" "125765968" "125765968" "subst" "6.49757E-5" "02373" "PUS3_000013" "g.125765968T>C" "0.,0000394" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125896073T>C" "" "VUS" "other" "0000872183" "11" "70" "11" "125765167" "125765167" "subst" "0" "02373" "PUS3_000017" "g.125765167A>G" "0.00000657" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125895272A>G" "" "VUS" "ACMG" "0000872291" "3" "70" "11" "125765968" "125765968" "subst" "6.49757E-5" "02373" "PUS3_000013" "g.125765968T>C" "" "{PMID:Lin 2022:36125428}, {DOI:Lin 2022:10.1002/humu.24471}" "" "" "" "Germline" "yes" "" "0" "" "" "g.125896073-T>C" "" "VUS" "other" "0000889680" "0" "30" "11" "125766022" "125766022" "subst" "0.00291977" "02325" "HYLS1_000013" "g.125766022C>T" "" "" "" "PUS3(NM_031307.4):c.158G>A (p.R53H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889681" "0" "30" "11" "125769731" "125769731" "subst" "0.00227487" "02326" "HYLS1_000008" "g.125769731A>G" "" "" "" "HYLS1(NM_001134793.1):c.468A>G (p.L156=), HYLS1(NM_145014.2):c.468A>G (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929818" "0" "30" "11" "125769564" "125769564" "subst" "0" "02326" "HYLS1_000014" "g.125769564A>C" "" "" "" "HYLS1(NM_145014.2):c.301A>C (p.R101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949609" "0" "90" "11" "125769294" "125769294" "del" "8.12242E-6" "02326" "HYLS1_000015" "g.125769294del" "" "" "" "HYLS1(NM_145014.2):c.31delT (p.W11Gfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979430" "0" "50" "11" "125765546" "125765546" "subst" "1.64002E-5" "01804" "HYLS1_000016" "g.125765546G>A" "" "" "" "PUS3(NM_031307.4):c.517C>T (p.(Arg173Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979431" "0" "70" "11" "125765968" "125765968" "subst" "6.49757E-5" "01804" "PUS3_000013" "g.125765968T>C" "" "" "" "PUS3(NM_031307.4):c.212A>G (p.(Tyr71Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979432" "0" "50" "11" "125769988" "125769988" "subst" "5.27897E-5" "01804" "HYLS1_000017" "g.125769988G>A" "" "" "" "HYLS1(NM_001134793.2):c.725G>A (p.(Arg242Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979433" "0" "50" "11" "125770090" "125770090" "subst" "4.06075E-6" "01804" "HYLS1_000018" "g.125770090G>A" "" "" "" "HYLS1(NM_001134793.2):c.827G>A (p.(Arg276His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979434" "0" "50" "11" "125770159" "125770161" "del" "0" "01804" "HYLS1_000019" "g.125770159_125770161del" "" "" "" "HYLS1(NM_001134793.2):c.896_898del (p.(Ser299del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038309" "0" "50" "11" "125769318" "125769318" "subst" "8.5282E-5" "01804" "HYLS1_000005" "g.125769318C>T" "" "" "" "HYLS1(NM_001134793.1):c.55C>T (p.R19*), HYLS1(NM_001134793.2):c.55C>T (p.(Arg19Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038310" "0" "50" "11" "125770090" "125770090" "subst" "0" "01804" "HYLS1_000020" "g.125770090G>T" "" "" "" "HYLS1(NM_001134793.2):c.827G>T (p.(Arg276Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047002" "3" "90" "11" "125765823" "125765836" "del" "0" "00006" "PUS3_000018" "g.125765823_125765836del" "" "{PMID:Borghesi 2022:34713961}, {DOI:Borghesi 2022:10.1002/ajmg.a.62547}" "" "NM_001271985.1:c.348_361del (Arg116Serfs*2)" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.125895928_125895941del" "" "pathogenic (recessive)" "ACMG" ## 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 PUS3 ## Count = 58 "{{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}}" "0000297515" "00017195" "10" "-46" "-3129" "-46" "-3129" "c.-46-3129A>G" "r.(=)" "p.(=)" "" "0000542896" "00017195" "50" "-46" "-3093" "-46" "-3093" "c.-46-3093G>A" "r.(=)" "p.(=)" "" "0000542897" "00017195" "30" "-47" "3" "-47" "3" "c.-47+3A>G" "r.spl?" "p.?" "" "0000542898" "00017195" "30" "-2480" "0" "-2480" "0" "c.-2480T>C" "r.(?)" "p.(=)" "" "0000624893" "00017195" "70" "1181" "0" "1182" "0" "c.1181_1182del" "r.(?)" "p.(Ser394CysfsTer18)" "" "0000656733" "00017195" "10" "-47" "3334" "-47" "3334" "c.-47+3334T>C" "r.(=)" "p.(=)" "" "0000804977" "00017195" "30" "3748" "0" "3748" "0" "c.*2302C>T" "r.(=)" "p.(=)" "" "0000804978" "00017195" "30" "3746" "0" "3747" "0" "c.*2300_*2301dup" "r.(=)" "p.(=)" "" "0000804979" "00017195" "30" "3747" "0" "3747" "0" "c.*2301dup" "r.(?)" "p.(=)" "" "0000841116" "00017195" "90" "1181" "0" "1182" "0" "c.1181_1182del" "r.(?)" "p.(Ser394Cysfs*18)" "" "0000841117" "00017195" "90" "1181" "0" "1182" "0" "c.1181_1182del" "r.(?)" "p.(Ser394Cysfs*18)" "" "0000841118" "00017195" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000841119" "00017195" "90" "-47" "3" "-47" "3" "c.-47+3A>G" "r.spl" "p.?" "1i" "0000841120" "00017195" "90" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "2" "0000841121" "00017195" "90" "62" "0" "62" "0" "c.62T>G" "r.(?)" "p.(Leu21Arg)" "2" "0000841122" "00017195" "90" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "2" "0000841123" "00017195" "90" "438" "0" "442" "0" "c.438_442del" "r.(?)" "p.(Asn146LysfsTer5)" "3" "0000841124" "00017195" "90" "438" "0" "442" "0" "c.438_442del" "r.(?)" "p.(Asn146LysfsTer5)" "3" "0000841125" "00017195" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Gln)" "3" "0000841126" "00017195" "90" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "2" "0000841127" "00017195" "90" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "2" "0000841128" "00017195" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" "2" "0000841129" "00017195" "90" "340" "0" "340" "0" "c.340T>C" "r.(?)" "p.(Cys114Arg)" "2" "0000841130" "00017195" "90" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "3" "0000841131" "00017195" "90" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "3" "0000841132" "00017195" "90" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "3" "0000841133" "00017195" "90" "1181" "0" "1182" "0" "c.1181_1182del" "r.(?)" "p.(Ser394CysfsTer18)" "4" "0000841134" "00017195" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Ter)" "4" "0000841135" "00017195" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Ter)" "4" "0000841136" "00017195" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Ter)" "4" "0000841137" "00017195" "90" "479" "0" "479" "0" "c.479dup" "r.(?)" "p.(Tyr160Ter)" "3" "0000841138" "00017195" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Gln)" "3" "0000841139" "00017195" "90" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Cys190Tyr)" "3" "0000841140" "00017195" "90" "835" "0" "835" "0" "c.835G>T" "r.(?)" "p.(Val279Phe)" "3" "0000841141" "00017195" "90" "835" "0" "835" "0" "c.835G>T" "r.(?)" "p.(Val279Phe)" "3" "0000841142" "00017195" "90" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Cys190Tyr)" "3" "0000841143" "00017195" "90" "620" "0" "620" "0" "c.620dup" "r.(?)" "p.(Thr208AsnfsTer14)" "3" "0000841144" "00017195" "90" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Ter)" "3" "0000841145" "00017195" "90" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Gln)" "3" "0000841146" "00017195" "90" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "0000841147" "00017195" "90" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "0000852798" "00017195" "10" "-46" "-3311" "-46" "-3311" "c.-46-3311C>A" "r.(=)" "p.(=)" "" "0000871998" "00017195" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "" "0000872182" "00017195" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "" "0000872183" "00017195" "70" "896" "0" "896" "0" "c.896T>C" "r.(?)" "p.(Ile299Thr)" "" "0000872291" "00017195" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "" "0000889680" "00017195" "30" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000889681" "00017195" "30" "-47" "3334" "-47" "3334" "c.-47+3334T>C" "r.(=)" "p.(=)" "" "0000929818" "00017195" "30" "-46" "-3339" "-46" "-3339" "c.-46-3339T>G" "r.(=)" "p.(=)" "" "0000949609" "00017195" "90" "-46" "-3069" "-46" "-3069" "c.-46-3069del" "r.(=)" "p.(=)" "" "0000979430" "00017195" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Cys)" "" "0000979431" "00017195" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "" "0000979432" "00017195" "50" "-47" "3077" "-47" "3077" "c.-47+3077C>T" "r.(=)" "p.(=)" "" "0000979433" "00017195" "50" "-47" "2975" "-47" "2975" "c.-47+2975C>T" "r.(=)" "p.(=)" "" "0000979434" "00017195" "50" "-47" "2907" "-47" "2909" "c.-47+2907_-47+2909del" "r.(=)" "p.(=)" "" "0001038309" "00017195" "50" "-46" "-3093" "-46" "-3093" "c.-46-3093G>A" "r.(=)" "p.(=)" "" "0001038310" "00017195" "50" "-47" "2975" "-47" "2975" "c.-47+2975C>A" "r.(=)" "p.(=)" "" "0001047002" "00017195" "90" "348" "0" "361" "0" "c.348_361del" "r.(?)" "p.(Arg116SerfsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000271045" "0000624893" "0000405065" "0000841116" "0000405066" "0000841117" "0000405067" "0000841118" "0000405068" "0000841119" "0000405068" "0000841137" "0000405069" "0000841120" "0000405069" "0000841138" "0000405070" "0000841121" "0000405071" "0000841122" "0000405071" "0000841139" "0000405072" "0000841123" "0000405072" "0000841140" "0000405073" "0000841124" "0000405073" "0000841141" "0000405074" "0000841125" "0000405074" "0000841142" "0000405075" "0000841126" "0000405076" "0000841127" "0000405077" "0000841128" "0000405077" "0000841143" "0000405078" "0000841129" "0000405078" "0000841144" "0000405079" "0000841130" "0000405079" "0000841145" "0000405080" "0000841131" "0000405080" "0000841146" "0000405081" "0000841132" "0000405081" "0000841147" "0000405082" "0000841133" "0000405083" "0000841134" "0000405084" "0000841135" "0000405085" "0000841136" "0000414347" "0000871998" "0000414502" "0000872182" "0000414502" "0000872183" "0000414593" "0000872291" "0000467717" "0001047002"