### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NUS1) # 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}}" "NUS1" "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)" "6" "q22.1" "unknown" "NG_054913.2" "UD_132610884852" "" "https://www.LOVD.nl/NUS1" "" "1" "21042" "116150" "610463" "1" "1" "1" "1" "Alias C6orf68.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NUS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-14 19:33:31" "00006" "2024-12-27 15:44:58" ## 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}}" "00014952" "NUS1" "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)" "001" "NM_138459.3" "" "NP_612468.1" "" "" "" "-217" "4594" "882" "117996617" "118031890" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05462" "CDG1AA" "glycosylation, congenital disorder of, type Iaa (CDG1AA)" "AR" "617082" "" "" "" "00006" "2018-07-18 22:50:59" "00006" "2021-10-14 19:33:00" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05902" "MRD55" "mental retardation, autosomal dominant, type 55, with seizures" "AD" "617831" "" "" "" "00006" "2021-03-03 09:31:02" "00006" "2023-10-23 15:21:12" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "NUS1" "00139" "NUS1" "05461" "NUS1" "05462" "NUS1" "05532" "NUS1" "05902" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00229646" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00265728" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00307999" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00334867" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "M" "no" "Italy" "" "0" "" "" "" "PME1" "00334873" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Italy" "" "0" "" "" "" "PME2" "00380219" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "182970" "00438672" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0623" "00438673" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0627" "00438759" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "United States" "" "0" "" "" "" "indvKW" "00444098" "" "" "" "1" "" "04613" "2-generation family, affected fetus/boy, unaffected heterozygous carrier parents" "{PMID:Bayam 2024:39609633}" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam3PatII2" "00451702" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00229646" "00198" "00265728" "00198" "00307999" "00198" "00334867" "05532" "00334873" "05532" "00380219" "05902" "00438672" "06906" "00438673" "06906" "00438759" "06906" "00444098" "00198" "00451702" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 05461, 05462, 05532, 05902, 06906 ## Count = 11 "{{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}}" "0000172871" "00198" "00229646" "01807" "Unknown" "" "Ataxia (HP:0001251); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000203513" "00198" "00265728" "01807" "Unknown" "" "Seizures (HP:0001250); Ataxia (HP:0001251); Global developmental delay (HP:0001263); Tremor (HP:0001337); Hypophosphatemia (HP:0002148)" "" "" "" "" "" "" "" "" "" "" "" "0000233422" "00198" "00307999" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Seizures (HP:0001250); Dyskinesia (HP:0100660)" "" "" "" "" "" "" "" "" "" "" "" "0000252757" "05532" "00334867" "03286" "Isolated (sporadic)" "" "Onset age 13 of frequent rest and action myoclonus, on background of mild learning difficulties. No seizures or ataxia. Normal cognition." "" "" "" "" "" "" "" "" "MRD55" "Unverricht-Lundborg disease like" "" "0000252758" "05532" "00334873" "03286" "Isolated (sporadic)" "" "Onset age 4 of febrile seizure and subsequent developmental regression. Daily absence seizures, associated with eyelid myoclonus from 4 years of age and upper limb myoclonus at 8 years of age. Stable ataxia, moderate cognitive decline noted. MRI: cerebellar atrophy." "" "" "" "" "" "" "" "" "MRD55" "progressive myoclonus epilepsy , dementia" "" "0000274074" "05902" "00380219" "01164" "Isolated (sporadic)" "22y" "Ataxia, Muscle weakness, Tremor, Involuntary movements, Abnormality of coordination, Abnormal muscle physiology" "" "" "" "" "" "" "" "" "" "" "" "0000328575" "06906" "00438672" "00006" "Isolated (sporadic)" "15y" "see paper; ..., global developmental delay, moderate intellectual disability, autism spectrum disorder; 10m-seizures; EEG diffuse slowing, bi-frontal predominance or generalized spikes; MRI brain normal; ADHD, tremor, seizures controlled under VPA and CLB" "" "" "" "" "" "" "" "" "MRD55" "developmental and epileptic encephalopathy" "" "0000328576" "06906" "00438673" "00006" "Isolated (sporadic)" "20y" "see paper; ..., motor delay, mild intellectual disability; 2y6m-seizures; EEG generalized spike-wave and poly-spike and wave; MRI brain normal; tremor, dysarthria, seizures controlled on VPA, LTG, and CZP" "" "" "" "" "" "" "" "" "MRD55" "developmental and epileptic encephalopathy" "" "0000328657" "06906" "00438759" "00006" "Isolated (sporadic)" "07y11m" "see paper; ..., global developmental delay, severe intellectual disability; 12m-seizures; EEG bi-frontal predominance epileptiform; MRI brain normal; ataxia with LEV, lack of coordination, seizures controlled with LEV" "" "" "" "" "" "" "" "" "MRD55" "developmental and epileptic encephalopathy" "" "0000337675" "00198" "00444098" "04613" "Familial, autosomal recessive" "03y03m" "see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking; no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures" "" "" "" "" "" "" "" "" "microcephaly" "lissencephaly" "" "0000340364" "00138" "00451702" "03544" "Familial" "" "HP:0000324, HP:0000717, HP:0000750, HP:0001288, HP:0006889, HP:0025502" "" "" "" "" "" "" "" "" "MRD55" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000230739" "00229646" "1" "01807" "01807" "2019-04-08 09:53:40" "" "" "SEQ" "DNA" "" "" "0000266851" "00265728" "1" "01807" "01807" "2019-10-02 10:11:44" "" "" "SEQ" "DNA" "" "" "0000309143" "00307999" "1" "01164" "01164" "2020-08-25 11:29:40" "" "" "SEQ-NG-S" "DNA" "" "" "0000336096" "00334867" "1" "03286" "03286" "2021-03-02 09:00:22" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES trio" "" "0000336102" "00334873" "1" "03286" "03286" "2021-03-02 09:35:09" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES trio" "" "0000381421" "00380219" "1" "01164" "01164" "2021-08-11 17:06:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000440154" "00438672" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440155" "00438673" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440241" "00438759" "1" "00006" "00006" "2023-10-23 15:24:37" "" "" "SEQ-NG" "DNA" "" "WES clinical" "0000445596" "00444098" "1" "04613" "04613" "2023-12-17 17:21:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000453306" "00451702" "1" "03544" "03544" "2024-07-02 06:53:21" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000381421" "NUS1" ## 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 = 32 "{{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}}" "0000222712" "0" "99" "6" "117996640" "118029751" "" "0" "00006" "NUS1_000001" "g.(117996640_118029751dup)" "" "{PMID:Tabata 2008:18392553}, {DOI:Tabata 2008:0.1007/s10038-008-0282-2}" "" "g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA]" "the additional copy of this sequence is inserted in SLC25A13 intron 16 on chromosome 7" "DUPLICATE record" "" "" "0" "" "" "" "" "pathogenic" "" "0000472356" "0" "70" "6" "118015324" "118015325" "del" "0" "01807" "NUS1_000002" "g.118015324_118015325del" "" "" "" "672_673delTA" "" "Unknown" "" "" "0" "" "" "g.117694161_117694162del" "" "likely pathogenic" "" "0000526997" "0" "50" "6" "118024825" "118024829" "del" "0" "01804" "NUS1_000004" "g.118024825_118024829del" "" "" "" "NUS1(NM_138459.3):c.749_753delCATTA (p.(Thr250fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117703662_117703666del" "" "VUS" "" "0000597678" "0" "70" "6" "117996861" "117996862" "dup" "0" "01807" "NUS1_000005" "g.117996861_117996862dup" "" "" "" "28_29dupCG" "" "Unknown" "" "" "0" "" "" "g.117675698_117675699dup" "" "likely pathogenic" "" "0000609954" "0" "70" "6" "117997116" "117997116" "subst" "0" "02329" "NUS1_000006" "g.117997116G>T" "" "" "" "NUS1(NM_138459.5):c.283G>T (p.E95*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117675953G>T" "" "likely pathogenic" "" "0000609955" "0" "70" "6" "118014204" "118014204" "subst" "0" "02327" "NUS1_000007" "g.118014204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117693041G>A" "" "likely pathogenic" "" "0000683621" "0" "70" "6" "118014283" "118014283" "subst" "0" "01164" "NUS1_000008" "g.118014283C>G" "" "" "" "" "ACMG grading: PVS1,PM2\r\nintelligence reduction and epilepsy (or path. EEG with gen. spikes and frontal ETP\'s/attack patterns), discrete dyskinesia, scoliotic posture" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000720649" "0" "70" "6" "118014240" "118014240" "subst" "0" "02327" "NUS1_000009" "g.118014240G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720650" "0" "50" "6" "118028171" "118028171" "subst" "0" "02325" "NUS1_000010" "g.118028171G>A" "" "" "" "NUS1(NM_138459.5):c.875G>A (p.G292E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735112" "0" "90" "6" "118024816" "118024816" "dup" "0" "03286" "NUS1_000011" "g.118024816dup" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "740dupT" "ACMG PVS1, PM2, PM6, PP4; Although the patient has later age at onset, intact cognition and no scoliosis, the electroclinical phenotype shares some features with those previously reported for this gene, with prominent myoclonus. The novel frameshift variant is confirmed de novo and functional studies support the damaging in silico predications. Thus, it is with high confidence we establish NUS1 as a new PME gene." "De novo" "" "" "0" "" "" "g.117703653dup" "" "pathogenic" "ACMG" "0000735131" "0" "90" "6" "117997143" "117997143" "del" "0" "03286" "NUS1_000012" "g.117997143del" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "310delG" "ACMG PVS1, PM2, PM6, PP4; The patient\'s electroclinical phenotype is consistent with previous reports for this gene, with early childhood onset myoclonus, subsequent cognitive decline and cerebellar atrophy. The novel frameshift variant is confirmed de novo and functional studies support the damaging in silico predications. Thus, it is with high confidence we establish NUS1 as a new PME gene." "De novo" "" "" "0" "" "" "g.117675980del" "" "pathogenic" "ACMG" "0000794869" "0" "50" "6" "118015323" "118015323" "subst" "0" "01164" "NUS1_000013" "g.118015323A>G" "" "" "" "" "ACMG: PS2, PM2_SUP" "De novo" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000802279" "0" "90" "6" "117996860" "117996860" "subst" "0" "02325" "NUS1_000014" "g.117996860G>A" "" "" "" "NUS1(NM_138459.5):c.27G>A (p.W9*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802280" "0" "30" "6" "117996901" "117996901" "subst" "3.72773E-5" "01943" "NUS1_000015" "g.117996901C>T" "" "" "" "NUS1(NM_138459.4):c.68C>T (p.T23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802281" "0" "70" "6" "118015323" "118015323" "subst" "0" "02327" "NUS1_000013" "g.118015323A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860128" "0" "10" "6" "117996818" "117996818" "subst" "0.948986" "02327" "NUS1_000016" "g.117996818T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887019" "0" "70" "6" "117996884" "117996884" "subst" "0" "02327" "NUS1_000017" "g.117996884T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887020" "0" "70" "6" "118015263" "118015263" "subst" "0" "02327" "NUS1_000018" "g.118015263C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887021" "0" "70" "6" "118015325" "118015325" "dup" "0" "02327" "NUS1_000019" "g.118015325dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912397" "0" "90" "6" "117996848" "117996848" "subst" "0" "02325" "NUS1_000020" "g.117996848C>G" "" "" "" "NUS1(NM_138459.5):c.15C>G (p.Y5*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924427" "0" "50" "6" "118028138" "118028138" "subst" "0" "02325" "NUS1_000021" "g.118028138T>G" "" "" "" "NUS1(NM_138459.5):c.842T>G (p.L281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929137" "0" "70" "6" "118024871" "118024871" "subst" "0" "02329" "NUS1_000022" "g.118024871A>G" "" "" "" "NUS1(NM_138459.5):c.791+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000936312" "0" "90" "6" "117996961" "117996974" "dup" "0" "00006" "NUS1_000023" "g.117996961_117996974dup" "" "{PMID:Hamdan 2017:29100083}" "" "NM_138459.4:c.128_141dup (V48Pfs*7)" "" "De novo" "" "" "0" "" "" "g.117675798_117675811dup" "" "pathogenic (dominant)" "" "0000936501" "0" "70" "6" "118013073" "118014377" "del" "0" "00006" "NUS1_000024" "g.118013073_118014377del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.117691910_117693214del" "" "likely pathogenic" "" "0000936549" "0" "90" "6" "118024819" "118024819" "del" "0" "00006" "NUS1_000025" "g.118024819del" "" "{PMID:Hamdan 2017:29100083}" "" "743delA" "" "De novo" "" "" "0" "" "" "g.117703656del" "" "likely pathogenic (dominant)" "" "0000976948" "0" "50" "6" "117997033" "117997033" "subst" "1.65939E-5" "01804" "NUS1_000026" "g.117997033G>C" "" "" "" "NUS1(NM_138459.5):c.200G>C (p.(Arg67Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976949" "0" "30" "6" "118024808" "118024808" "subst" "9.7603E-5" "01804" "NUS1_000027" "g.118024808C>T" "" "" "" "NUS1(NM_138459.5):c.732C>T (p.(Phe244=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987893" "0" "70" "6" "118014275" "118014275" "dup" "0" "03544" "NUS1_000028" "g.118014275dup" "" "" "" "" "observed in siblings with similar phenotypic features; not present in mother, father not tested (so far)" "Germline" "yes" "" "0" "" "" "g.117693112dup" "" "likely pathogenic" "ACMG" "0000995292" "0" "50" "6" "117997216" "117997216" "subst" "0" "02325" "NUS1_000029" "g.117997216G>A" "" "" "" "NUS1(NM_138459.5):c.383G>A (p.G128D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995293" "0" "30" "6" "118015326" "118015326" "subst" "1.25503E-5" "01804" "NUS1_000030" "g.118015326C>T" "" "" "" "NUS1(NM_138459.3):c.674C>T (p.(Thr225Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014168" "0" "50" "6" "117997104" "117997104" "subst" "3.49104E-5" "02325" "NUS1_000031" "g.117997104G>A" "" "" "" "NUS1(NM_138459.5):c.271G>A (p.G91S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020118" "3" "30" "6" "117996908" "117996908" "subst" "7.20399E-6" "00006" "NUS1_000032" "g.117996908G>C" "" "{PMID:Bayam 2024:39609633}" "" "" "no match with clinical features homozygous patients (epilepsy, cerebellar ataxia, ID, cortical myoclonus" "Germline" "" "" "0" "" "" "g.117675745G>C" "" "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 NUS1 ## Count = 32 "{{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}}" "0000222712" "00014952" "99" "-194" "0" "2455" "0" "c.(-194_*1573dup)" "-" "-" "1_5" "0000472356" "00014952" "70" "672" "0" "673" "0" "c.672_673del" "r.(?)" "p.(Thr225Valfs*6)" "" "0000526997" "00014952" "50" "749" "0" "753" "0" "c.749_753del" "r.(?)" "p.(Thr250ArgfsTer11)" "" "0000597678" "00014952" "70" "28" "0" "29" "0" "c.28_29dup" "r.(?)" "p.(Val11Glyfs*40)" "" "0000609954" "00014952" "70" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Glu95Ter)" "" "0000609955" "00014952" "70" "416" "-1" "416" "-1" "c.416-1G>A" "r.spl?" "p.?" "" "0000683621" "00014952" "70" "494" "0" "494" "0" "c.494C>G" "r.(?)" "p.(Ser165*)" "" "0000720649" "00014952" "70" "451" "0" "451" "0" "c.451G>T" "r.(?)" "p.(Glu151*)" "" "0000720650" "00014952" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Glu)" "" "0000735112" "00014952" "90" "740" "0" "740" "0" "c.740dup" "r.(?)" "p.(Asp248Glyfs*15)" "" "0000735131" "00014952" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Val104*)" "" "0000794869" "00014952" "50" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asp224Gly)" "3" "0000802279" "00014952" "90" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Trp9*)" "" "0000802280" "00014952" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Thr23Ile)" "" "0000802281" "00014952" "70" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asp224Gly)" "" "0000860128" "00014952" "10" "-16" "0" "-16" "0" "c.-16=" "r.(=)" "p.(=)" "" "0000887019" "00014952" "70" "51" "0" "51" "0" "c.51T>A" "r.(?)" "p.(Cys17*)" "" "0000887020" "00014952" "70" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Ala204Asp)" "" "0000887021" "00014952" "70" "673" "0" "673" "0" "c.673dup" "r.(?)" "p.(Thr225Asnfs*7)" "" "0000912397" "00014952" "90" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Tyr5*)" "" "0000924427" "00014952" "50" "842" "0" "842" "0" "c.842T>G" "r.(?)" "p.(Leu281Arg)" "" "0000929137" "00014952" "70" "791" "4" "791" "4" "c.791+4A>G" "r.spl?" "p.?" "" "0000936312" "00014952" "90" "128" "0" "141" "0" "c.128_141dup" "r.(?)" "p.(Val48Profs*7)" "" "0000936501" "00014952" "70" "416" "-1132" "541" "47" "c.416-1132_541+47del" "r.(?)" "p.(Gly139_Gln180del)" "1i_2i" "0000936549" "00014952" "90" "743" "0" "743" "0" "c.743del" "r.(?)" "p.(Asp248Alafs*4)" "" "0000976948" "00014952" "50" "200" "0" "200" "0" "c.200G>C" "r.(?)" "p.(Arg67Pro)" "" "0000976949" "00014952" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(=)" "" "0000987893" "00014952" "70" "486" "0" "486" "0" "c.486dup" "r.(?)" "p.(Asp163Argfs*12)" "2" "0000995292" "00014952" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Gly128Asp)" "" "0000995293" "00014952" "30" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0001014168" "00014952" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Gly91Ser)" "" "0001020118" "00014952" "30" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Trp25Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000230739" "0000472356" "0000266851" "0000597678" "0000309143" "0000683621" "0000336096" "0000735112" "0000336102" "0000735131" "0000381421" "0000794869" "0000440154" "0000936312" "0000440155" "0000936501" "0000440241" "0000936549" "0000445596" "0001020118" "0000453306" "0000987893"