### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNB5) # 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}}" "GNB5" "guanine nucleotide binding protein (G protein), beta 5" "15" "q21.1" "unknown" "NC_000015.9" "UD_136020647177" "" "https://www.LOVD.nl/GNB5" "" "1" "4401" "10681" "604447" "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/GNB5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-18 14:58:17" "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}}" "00025738" "GNB5" "transcript variant 2" "001" "NM_016194.3" "" "NP_057278.2" "" "" "" "-65" "3019" "1188" "52483565" "52413123" "00006" "2022-09-18 14:57:44" "" "" ## 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}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "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" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05263" "LDMLS1;IDDCA" "Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (IDDCA)" "AR" "617173" "" "" "" "00006" "2017-04-22 14:08:10" "00006" "2024-03-07 18:08:49" "05264" "LDMLS2" "Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (LADCI)" "AR" "617182" "" "" "" "00006" "2017-04-22 14:09:16" "00006" "2024-03-07 18:09:40" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GNB5" "05263" "GNB5" "05264" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00103910" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6681_1" "00103911" "" "" "" "2" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "2 affected siblings" "" "" "United States" "" "0" "" "" "" "28327206-PatBG" "00417496" "" "" "" "12" "" "00006" "{PMID:Olivier 2021:32817297}" "4-generation family, 12 affected (8F, 4M)" "F;M" "" "France" "" "0" "" "" "" "FamA" "00438289" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat7" "00444098" "" "" "" "1" "" "04613" "2-generation family, affected fetus/boy, unaffected heterozygous carrier parents" "{PMID:Bayam 2024:39609633}" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam3PatII2" "00448386" "" "" "" "5" "" "00006" "{PMID:Shamseldin 2016:27677260}" "4-generation family, 5 affected, unaffected heterozygous parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatV1" "00448387" "" "" "00448386" "1" "" "00006" "{PMID:Shamseldin 2016:27677260}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatV2" "00448388" "" "" "00448386" "1" "" "00006" "{PMID:Shamseldin 2016:27677260}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatV3" "00448389" "" "" "00448386" "1" "" "00006" "{PMID:Shamseldin 2016:27677260}" "cousin" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIV1" "00448390" "" "" "00448386" "1" "" "00006" "{PMID:Shamseldin 2016:27677260}" "distant cousin" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIV6" "00448391" "" "" "" "2" "" "00006" "{PMID:Lodder 2016:27523599}, {PMID:Poke 2019:31631344}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "no" "Italy" "" "0" "" "" "" "FamAPatII2;Pat6" "00448392" "" "" "00448391" "1" "" "00006" "{PMID:Lodder 2016:27523599}, {PMID:Poke 2019:31631344}" "sister" "F" "no" "Italy" "" "0" "" "" "" "FamAPatII1;Pat7" "00448393" "" "" "" "1" "" "00006" "{PMID:Lodder 2016:27523599}, {PMID:Poke 2019:31631344}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Brazil" "" "0" "" "" "Jordan" "FamBPatII2;Pat9" "00448394" "" "" "" "2" "" "00006" "{PMID:Lodder 2016:27523599}" "2-generation family, 2 affected (sister/brother), unaffected heterozygous parents" "F" "yes" "United States" "" "0" "" "" "Puerto Rico" "FamCPatII3" "00448395" "" "" "00448394" "1" "" "00006" "{PMID:Lodder 2016:27523599}" "brother" "M" "yes" "United States" "" "0" "" "" "Puerto Rico" "FamCPatII2" "00448396" "" "" "" "1" "" "00006" "{PMID:Lodder 2016:27523599}, {PMID:Poke 2019:31631344}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "United States" "" "0" "" "" "India" "FamDPatII1;Pat8" "00448397" "" "" "" "2" "" "00006" "{PMID:Lodder 2016:27523599}" "2-generation family, 2 affected (sister/brother), unaffected heterozygous parents" "F" "no" "Netherlands" "" "0" "" "" "Morocco" "FamEPatII2" "00448398" "" "" "00448397" "1" "" "00006" "{PMID:Lodder 2016:27523599}" "brother" "M" "no" "Netherlands" "" "0" "" "" "Morocco" "FamEPatII1" "00448399" "" "" "" "1" "" "00006" "{PMID:Lodder 2016:27523599}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Brazil" "" "0" "" "" "" "FamF" "00448404" "" "" "" "1" "" "00006" "{PMID:Poke 2019:31631344}" "4-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Cambodia" "" "0" "" "" "" "Pat1" "00448405" "" "" "" "1" "" "00006" "{PMID:Poke 2019:31631344}" "5-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Pat2" "00448406" "" "" "" "2" "" "00006" "{PMID:Poke 2019:31631344}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Algeria" "13y" "0" "" "" "" "FamPat3" "00448407" "" "" "00448406" "1" "" "00006" "{PMID:Poke 2019:31631344}" "sister" "F" "" "Algeria" "" "0" "" "" "" "FamPat4" "00448408" "" "" "" "2" "" "00006" "{PMID:Yazdani 2020:32280589}" "2-generation family, 2 affected brothers, unaffected heterozygous parents (1st cousin)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPat1" "00448409" "" "" "00448408" "1" "" "00006" "{PMID:Yazdani 2020:32280589}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPat2" "00448410" "" "" "" "1" "" "00006" "{PMID:Malerba 2018:30631341}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Italy" "" "0" "" "" "" "patient" "00448411" "" "" "" "6" "" "00006" "{PMID:Turkdogan 2017:28697420}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamPatIV14" "00448412" "" "" "00448411" "1" "" "00006" "{PMID:Turkdogan 2017:28697420}" "sister" "F" "yes" "Turkey" "5m15d" "0" "" "" "" "FamPatIV8" "00448413" "" "" "00448411" "1" "" "00006" "{PMID:Turkdogan 2017:28697420}" "brother" "M" "yes" "Turkey" "7m" "0" "" "" "" "FamPatIV11" "00448414" "" "" "00448411" "1" "" "00006" "{PMID:Turkdogan 2017:28697420}" "twin sister" "F" "yes" "Turkey" "8m" "0" "" "" "" "FamPatIV13" "00448415" "" "" "00448411" "1" "" "00006" "{PMID:Turkdogan 2017:28697420}" "brother" "F" "yes" "Turkey" "7y" "0" "" "" "" "FamPatIV12" "00448416" "" "" "00448411" "1" "" "00006" "{PMID:Turkdogan 2017:28697420}" "2nd degree cousin" "M" "yes" "Turkey" "" "0" "" "" "" "FamPatV1" "00448418" "" "" "" "1" "" "00006" "{PMID:Vernon 2018:29368331}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "" "" "0" "" "" "white" "patient" "00448419" "" "" "" "1" "" "00006" "{PMID:Shao 2020:31720979}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Canada" "" "0" "" "" "Asia-S" "patient" "00448420" "" "" "" "1" "" "00006" "{PMID:Tang 2020:32203251}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "Han" "patient" "00460919" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00103910" "00198" "00103911" "00198" "00417496" "00112" "00438289" "04270" "00444098" "00198" "00448386" "05611" "00448387" "05611" "00448388" "05611" "00448389" "05611" "00448390" "05611" "00448391" "00198" "00448392" "00198" "00448393" "00198" "00448394" "00198" "00448395" "00198" "00448396" "00198" "00448397" "00198" "00448398" "00198" "00448399" "00198" "00448404" "00198" "00448405" "00198" "00448406" "00198" "00448407" "00198" "00448408" "00198" "00448409" "00198" "00448410" "00198" "00448411" "00841" "00448412" "00841" "00448413" "00841" "00448414" "00841" "00448415" "00841" "00448416" "00841" "00448418" "00139" "00448419" "00198" "00448420" "00139" "00460919" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00841, 04270, 05263, 05264, 05611 ## Count = 35 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081837" "00198" "00103910" "00006" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, hypotonia, retinal dystrophy, arrhythmia (Mobitz type I atrioventricular block)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081838" "00198" "00103911" "00006" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, speech delay, nystagmus, sinus node dysfunction" "" "" "" "" "" "" "" "" "" "" "" "" "0000308978" "00112" "00417496" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "RP91" "retinitis pigmentosa" "" "0000328193" "04270" "00438289" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0004387 enterocolitis" "16d" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000337574" "05611" "00448386" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); no motor delay (-HP:0001270); IQ110; no facial dysmorphism (-HP:0001999); OFC 50th centile; MRI brain normal" "" "" "" "" "" "" "" "" "" "" "neuropsychiatric disorder" "" "0000337575" "05611" "00448387" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); no motor delay (-HP:0001270); no intellectual disability (HP:0001249); no facial dysmorphism (-HP:0001999); OFC 50th centile" "" "" "" "" "" "" "" "" "" "" "neuropsychiatric disorder" "" "0000337576" "05611" "00448388" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., attention deficit hyperactivity disorder? (?HP:0007018) (too young) ; speech delay (HP:0000750); motor delay (HP:0001270); no intellectual disability (HP:0001249); no facial dysmorphism (-HP:0001999)" "" "" "" "" "" "" "" "" "" "" "neuropsychiatric disorder" "" "0000337577" "05611" "00448389" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., no attention deficit hyperactivity disorder (-HP:0007018); speech delay (HP:0000750); motor delay (HP:0001270); IQ80; no facial dysmorphism (-HP:0001999); OFC 50th centile; MRI brain normal" "" "" "" "" "" "" "" "" "" "" "neuropsychiatric disorder" "" "0000337578" "05611" "00448390" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., attention deficit hyperactivity disorder (HP:0007018); speech delay (HP:0000750); motor delay (HP:0001270); no facial dysmorphism (-HP:0001999); MRI brain normal" "" "" "" "" "" "" "" "" "" "" "neuropsychiatric disorder" "" "0000337579" "00198" "00448391" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., birth weight 3,580 g (50th); speech delay (HP:0000750); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; escape beats; no pacemaker; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337580" "00198" "00448392" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., speech delay (HP:0000750); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; escape beats; no pacemaker; patent foramen ovale; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337581" "00198" "00448393" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., birth weight 2,980 g (15th); speech delay (HP:0000750), nonverbal (HP:0001344); intellectual disability (HP:0001249); epilepsy (HP:0001250); sinus sick syndrome; no pacemaker; hypotonia (HP:0001252); normal gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337582" "00198" "00448394" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., birth weight 2,751 g (15th); speech delay (HP:0000750), normal verbal understanding, delayed lexical production; intellectual disability (HP:0001249); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response; paced escape beats; pacemaker implantated; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337583" "00198" "00448395" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., see paper; ..., speech delay (HP:0000750), normal verbal understanding, delayed lexical production; intellectual disability (HP:0001249); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response; paced escape beats; pacemaker implantated; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337584" "00198" "00448396" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., birth weight 2,845 g (15th); speech delay (HP:0000750), nonverbal (HP:0001344); intellectual disability (HP:0001249); epilepsy (HP:0001250); increased PR interval (intermittent Weckenbach); no pacemaker; no structural heart anomalies; hypotonia (HP:0001252); pathological gastric reflux; nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS1" "severe multisystem syndrome" "" "0000337585" "00198" "00448397" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., speech delay (HP:0000750), delayed lexical production; mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response unremarkable; escape beats; no pacemaker; no structural heart anomalies; no hypotonia (-HP:0001252); normal gastric reflux" "" "" "" "" "" "" "" "" "" "LDMLS2" "milder multisystem syndrome" "" "0000337586" "00198" "00448398" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., speech delay (HP:0000750), delayed lexical production; mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; chronotropic response unremarkable; escape beats; pacemaker implantated; no structural heart anomalies; impaired fine motor skills; normal gastric reflux; no nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "LDMLS2" "milder multisystem syndrome" "" "0000337587" "00198" "00448399" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., mild intellectual disability (HP:0001249)(HP:0001256); no epilepsy (-HP:0001250); sinus sick syndrome; no hypotonia (-HP:0001252)" "" "" "" "" "" "" "" "" "" "LDMLS2" "milder multisystem syndrome" "" "0000337592" "00198" "00448404" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., 1d-delay noted; 11d-onset seizures, focal hemiclonic seizure, 3m-epileptic spasms, 21m-focal to bilateral tonic-clonic seizure/focal tonic seizure; EEG 1m-multifocal epileptiform discharges, 3m-burst suppression; hypotonia, contractures; profound intellectual disability; nonverbal; nonambulatory; sinus bradycardia with 4.2 s pauses (1d-cyanosis); cortical visual impairment, optic atrophy; no ERG; pyloric stenosis, G-tube, scoliosis" "" "" "" "" "" "" "" "" "" "LDMLS1" "" "" "0000337593" "00198" "00448405" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., 2m-delay noted; 3m-onset epileptic spasms, 18m-tonic-clonic seizure, 23m-epileptic spasms; EEG 1m-normal, 3m-burst suppression, 4m-normal; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain 2y-mild cerebellar atrophy; junctional rhythm with 6.9 s pauses (3d-apnea); vertical nystagmus; no ERG; microcephaly" "" "" "" "" "" "" "" "" "" "LDMLS1" "" "" "0000337594" "00198" "00448406" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 13y-deceased; 1d-delay noted; 4m-onset clonic seizure, 6m-epileptic spasms, 11m-generalized tonic-clonic seizure, 3y-epileptic spasms; EEG 42d-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain normal; ECG normal; nystagmus; no ERG" "" "" "" "" "" "" "" "" "" "LDMLS1" "" "" "0000337595" "00198" "00448407" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 1d-delay noted; 6m-onset clonic seizure, 2y-focal impaired awareness seizure, 2y-focal clonic seizure; EEG 7m/2y-multifocal epileptiform discharges, ...; hypotonia; profound intellectual disability; nonverbal; nonambulatory; MRI brain mild ventricular asymmetry; sinus bradycardia (2y-asymptomatic; vertical nystagmus, retinopathy on ERG" "" "" "" "" "" "" "" "" "" "LDMLS1" "" "" "0000337596" "00198" "00448408" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome" "" "" "" "" "" "" "" "" "" "LDMLS1" "neurodevelopmental disorder" "" "0000337597" "00198" "00448409" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome" "" "" "" "" "" "" "" "" "" "LDMLS1" "neurodevelopmental disorder" "" "0000337598" "00198" "00448410" "00006" "Familial, autosomal recessive" "02y06m" "see paper; ..., hypotonia, severe sick sinus syndrome, mild intellectual disability" "" "" "" "" "" "" "" "" "" "LDMLS2" "" "" "0000337599" "00841" "00448411" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337600" "00841" "00448412" "00006" "Familial, autosomal recessive" "5m15d" "see paper; ..., 5m15d died severe acute gastroenteritis); early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337601" "00841" "00448413" "00006" "Familial, autosomal recessive" "7m" "see paper; ..., 7m-died during sleep; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337602" "00841" "00448414" "00006" "Familial, autosomal recessive" "8m" "see paper; ..., 8m-died during sleep; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337603" "00841" "00448415" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., 7y-died multiple organ failure (had sinus bradycardia and sinus arrhythmia); early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337604" "00841" "00448416" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., ; early infantile epileptic encephalopathy, severe neurologic developmental delay, nystagmus, retinal degeneration, cardiac conduction disorder (sinus arrhythmia, normal PR/QTc intervals and sinus bradycardia with frequent sinus pauses up to 3.3sec without structural abnormalities)" "" "" "" "" "" "" "" "" "" "LDMLS1" "early infantile epileptic encephalopathy" "" "0000337606" "00139" "00448418" "00006" "Familial, autosomal recessive" "01y05m" "see paper; ..., NICU respiratory distress, periodic breathing, bradycardia; laryngomalacia hypertonia, clenched hands 3m-upbeat nystagmus; ERG severe reduction cone/rod function" "" "" "" "" "" "" "" "" "" "LDMLS1" "intellectual disability" "" "0000337607" "00198" "00448419" "00006" "Familial, autosomal recessive" "03y" "see paper;. ..., 4m-nystagmus, 6m-status epilepticus, severe bradycardia; global developmental delay, hypotonia, central sleep apnea" "" "" "" "" "" "" "" "" "" "LDMLS1" "nystagmus" "" "0000337608" "00139" "00448420" "00006" "Familial, autosomal recessive" "00y06m" "see paper; ..., early-onset intellectual developmental disorder, cardiac arrhythmia syndrome; 6m-convulsions, paroxysmal cyanosis (1d); neurodevelopmental delay; frequent seizures, ECG severe cardiac arrhythmia" "" "" "" "" "" "" "" "" "" "LDMLS1" "intellectual disability" "" "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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104368" "00103910" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104369" "00103911" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000418789" "00417496" "1" "00006" "00006" "2022-09-18 14:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439771" "00438289" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445596" "00444098" "1" "04613" "04613" "2023-12-17 17:21:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000449962" "00448386" "1" "00006" "00006" "2024-03-07 16:22:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449963" "00448387" "1" "00006" "00006" "2024-03-07 16:22:53" "" "" "SEQ" "DNA" "" "" "0000449964" "00448388" "1" "00006" "00006" "2024-03-07 16:22:53" "" "" "SEQ" "DNA" "" "" "0000449965" "00448389" "1" "00006" "00006" "2024-03-07 16:22:53" "" "" "SEQ" "DNA" "" "" "0000449966" "00448390" "1" "00006" "00006" "2024-03-07 16:22:53" "" "" "SEQ" "DNA" "" "" "0000449967" "00448391" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000449968" "00448392" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000449969" "00448393" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449970" "00448394" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449971" "00448395" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449972" "00448396" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449973" "00448397" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449974" "00448398" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449975" "00448399" "1" "00006" "00006" "2024-03-07 18:34:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449980" "00448404" "1" "00006" "00006" "2024-03-07 19:45:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449981" "00448405" "1" "00006" "00006" "2024-03-07 19:45:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449982" "00448406" "1" "00006" "00006" "2024-03-07 19:45:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449983" "00448407" "1" "00006" "00006" "2024-03-07 19:45:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449984" "00448408" "1" "00006" "00006" "2024-03-07 19:57:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449985" "00448409" "1" "00006" "00006" "2024-03-07 19:57:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449986" "00448410" "1" "00006" "00006" "2024-03-07 20:15:17" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000449987" "00448411" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449988" "00448412" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449989" "00448413" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449990" "00448414" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449991" "00448415" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449992" "00448416" "1" "00006" "00006" "2024-03-07 21:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449994" "00448418" "1" "00006" "00006" "2024-03-08 18:26:20" "" "" "SEQ" "DNA" "" "" "0000449995" "00448419" "1" "00006" "00006" "2024-03-08 18:37:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449996" "00448420" "1" "00006" "00006" "2024-03-08 18:44:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462551" "00460919" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000104368" "GNB5" "0000104369" "GNB5" "0000449963" "GNB5" "0000449964" "GNB5" "0000449965" "GNB5" "0000449966" "GNB5" "0000449994" "GNB5" "0000462551" "GNB5" ## 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 = 51 "{{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}}" "0000169048" "3" "90" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.52124617G>C" "" "pathogenic" "" "0000169049" "3" "90" "15" "52446134" "52446134" "subst" "8.15089E-6" "00006" "GNB5_000002" "g.52446134T>C" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.52153937T>C" "" "pathogenic" "" "0000554778" "0" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "02327" "GNB5_000003" "g.52446144G>A" "" "" "" "GNB5(NM_016194.4):c.368C>T (p.S123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52153947G>A" "" "pathogenic" "" "0000554779" "0" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "02329" "GNB5_000003" "g.52446144G>A" "" "" "" "GNB5(NM_016194.4):c.368C>T (p.S123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52153947G>A" "" "pathogenic" "" "0000554780" "0" "70" "15" "52446144" "52446144" "subst" "0" "02327" "GNB5_000004" "g.52446144G>C" "" "" "" "GNB5(NM_016194.3):c.368C>G (p.S123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52153947G>C" "" "likely pathogenic" "" "0000554781" "0" "70" "15" "52471964" "52471964" "subst" "0" "01943" "GNB5_000005" "g.52471964C>G" "" "" "" "GNB5(NM_016194.3):c.238+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52179767C>G" "" "likely pathogenic" "" "0000554782" "0" "70" "15" "52476873" "52476873" "subst" "0" "01943" "GNB5_000006" "g.52476873T>C" "" "" "" "GNB5(NM_016194.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52184676T>C" "" "likely pathogenic" "" "0000623258" "0" "50" "15" "52416790" "52416790" "subst" "0" "01943" "GNB5_000007" "g.52416790C>A" "" "" "" "GNB5(NM_016194.3):c.1056G>T (p.W352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52124593C>A" "" "VUS" "" "0000806763" "0" "50" "15" "52427826" "52427826" "subst" "0.00023998" "02329" "GNB5_000008" "g.52427826T>C" "" "" "" "GNB5(NM_006578.4):c.629A>G (p.N210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863897" "0" "50" "15" "52446144" "52446144" "subst" "0" "01943" "GNB5_000004" "g.52446144G>C" "" "" "" "GNB5(NM_016194.3):c.368C>G (p.S123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878653" "1" "50" "15" "52446151" "52446151" "subst" "2.03358E-5" "00006" "GNB5_000009" "g.52446151C>T" "" "{PMID:Olivier 2021:32817297}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000935900" "3" "90" "15" "52471964" "52472077" "del" "0" "00006" "GNB5_000010" "g.(52446274_52471964)_(52472077_52476747)del" "" "{PMID:Chuan 2022:35571021}" "" "del ex3" "ACMG PVS1,PM2" "Germline" "" "" "0" "" "" "g.(52154077_52179767)_(52179880_52184550)del" "" "likely pathogenic" "ACMG" "0000971568" "3" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Shamseldin 2016:27677260}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "pathogenic (recessive)" "" "0000971569" "3" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Shamseldin 2016:27677260}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "pathogenic (recessive)" "" "0000971570" "3" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Shamseldin 2016:27677260}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "pathogenic (recessive)" "" "0000971571" "3" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Shamseldin 2016:27677260}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "pathogenic (recessive)" "" "0000971572" "3" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Shamseldin 2016:27677260}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "pathogenic (recessive)" "" "0000971578" "11" "90" "15" "52446137" "52446137" "subst" "0" "00006" "GNB5_000018" "g.52446137C>T" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.249G>A" "" "Germline" "yes" "" "0" "" "" "g.52153940C>T" "" "pathogenic (recessive)" "" "0000971579" "11" "90" "15" "52446137" "52446137" "subst" "0" "00006" "GNB5_000018" "g.52446137C>T" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.249G>A" "" "Germline" "yes" "" "0" "" "" "g.52153940C>T" "" "pathogenic (recessive)" "" "0000971580" "3" "90" "15" "52446136" "52446136" "subst" "0" "00006" "GNB5_000017" "g.52446136C>A" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.249+1G>T" "" "Germline" "" "" "0" "" "" "g.52153939C>A" "" "pathogenic (recessive)" "" "0000971581" "3" "90" "15" "52446134" "52446134" "subst" "8.15089E-6" "00006" "GNB5_000002" "g.52446134T>C" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.249+3A>G" "" "Germline" "yes" "" "0" "" "" "g.52153937T>C" "" "pathogenic (recessive)" "" "0000971582" "3" "90" "15" "52446134" "52446134" "subst" "8.15089E-6" "00006" "GNB5_000002" "g.52446134T>C" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.249+3A>G" "" "Germline" "yes" "" "0" "" "" "g.52153937T>C" "" "pathogenic (recessive)" "" "0000971583" "3" "90" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.906C>G" "" "Germline" "" "" "0" "" "" "g.52124617G>C" "" "pathogenic (recessive)" "" "0000971584" "3" "70" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.906C>G" "" "Germline" "yes" "" "0" "" "" "g.52124617G>C" "" "pathogenic (recessive)" "" "0000971585" "3" "70" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.242C>T" "" "Germline" "yes" "" "0" "" "" "g.52153947G>A" "" "likely pathogenic (recessive)" "" "0000971586" "3" "70" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.242C>T" "" "Germline" "" "" "0" "" "" "g.52153947G>A" "" "likely pathogenic (recessive)" "" "0000971587" "21" "90" "15" "52416726" "52416726" "subst" "8.12163E-6" "00006" "GNB5_000016" "g.52416726G>A" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.994C>T" "" "Germline" "yes" "" "0" "" "" "g.52124529G>A" "" "pathogenic (recessive)" "" "0000971588" "21" "90" "15" "52416726" "52416726" "subst" "8.12163E-6" "00006" "GNB5_000016" "g.52416726G>A" "" "{PMID:Lodder 2016:27523599}" "" "NM_006578.3:c.994C>T" "" "Germline" "yes" "" "0" "" "" "g.52124529G>A" "" "pathogenic (recessive)" "" "0000971594" "3" "90" "15" "52446251" "52446251" "del" "0" "00006" "GNB5_000020" "g.52446251del" "" "{PMID:Poke 2019:31631344}" "" "NM_006578.3:c.136delG" "" "Germline" "yes" "" "0" "" "" "g.52154054del" "" "pathogenic (recessive)" "" "0000971595" "3" "90" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Poke 2019:31631344}" "" "NM_006578.3:c.906C>G" "" "Germline" "yes" "" "0" "" "" "g.52124617G>C" "" "pathogenic (recessive)" "" "0000971596" "3" "90" "15" "52446144" "52446144" "subst" "0" "00006" "GNB5_000019" "g.52446144G>T" "" "{PMID:Poke 2019:31631344}" "" "NM_006578.3:c.242C>A" "" "Germline" "" "" "0" "" "" "g.52153947G>T" "" "pathogenic (recessive)" "" "0000971597" "3" "90" "15" "52446144" "52446144" "subst" "0" "00006" "GNB5_000019" "g.52446144G>T" "" "{PMID:Poke 2019:31631344}" "" "NM_006578.3:c.242C>A" "" "Germline" "" "" "0" "" "" "g.52153947G>T" "" "pathogenic (recessive)" "" "0000971598" "3" "90" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Yazdani 2020:32280589}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52124617G>C" "" "pathogenic (recessive)" "" "0000971603" "3" "90" "15" "52416814" "52416814" "subst" "1.22001E-5" "00006" "GNB5_000001" "g.52416814G>C" "" "{PMID:Yazdani 2020:32280589}" "" "" "" "Germline" "yes" "" "0" "" "" "g.52124617G>C" "" "pathogenic (recessive)" "" "0000971608" "11" "90" "15" "52446164" "52446168" "del" "0" "00006" "GNB5_000011" "g.52446164_52446168del" "" "{PMID:Malerba 2018:30631341}" "" "NM_006578.3:c.222_226delTAAGA" "" "Germline" "" "" "0" "" "" "g.52153967_52153971del" "" "pathogenic (recessive)" "" "0000971609" "21" "90" "15" "52446144" "52446144" "subst" "5.6993E-5" "00006" "GNB5_000003" "g.52446144G>A" "" "{PMID:Malerba 2018:30631341}" "" "NM_006578.3:c.242C>T" "" "Germline" "" "" "0" "" "" "NC_000015.10:g.52153947G>A" "" "pathogenic (recessive)" "" "0000971610" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971611" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971612" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971613" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971614" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971615" "3" "90" "15" "52439669" "52439669" "del" "0" "00006" "GNB5_000012" "g.52439669del" "" "{PMID:Turkdogan 2017:28697420}" "" "NM_006578:355delG" "" "Germline" "yes" "" "0" "" "" "g.52147472del" "" "pathogenic (recessive)" "" "0000971619" "21" "90" "15" "52446164" "52446168" "del" "0" "00006" "GNB5_000011" "g.52446164_52446168del" "" "{PMID:Vernon 2018:29368331}" "" "NM_006578.3:c.222_226delTAAGA" "" "Germline" "" "" "0" "" "" "g.52153967_52153971del" "" "pathogenic (recessive)" "" "0000971620" "11" "90" "15" "52425575" "52425575" "subst" "8.13094E-6" "00006" "GNB5_000013" "g.52425575C>T" "" "{PMID:Vernon 2018:29368331}" "" "NM_006578.3:c.737G>A" "" "Germline" "" "" "0" "" "" "g.52133378C>T" "" "pathogenic (recessive)" "" "0000971621" "3" "90" "15" "52416814" "52416814" "subst" "4.06669E-6" "00006" "GNB5_000014" "g.52416814G>T" "" "{PMID:Shao 2020:31720979}" "" "NM_006578.3:c.906C>A" "" "Germline" "" "" "0" "" "" "g.52124617G>T" "" "pathogenic (recessive)" "" "0000971622" "21" "90" "15" "52439692" "52439692" "subst" "0" "00006" "GNB5_000015" "g.52439692C>T" "" "{PMID:Tang 2020:32203251}" "" "" "" "Germline" "" "" "0" "" "" "g.52147495C>T" "" "pathogenic (recessive)" "" "0000971623" "11" "90" "15" "52416814" "52416814" "subst" "4.06669E-6" "00006" "GNB5_000014" "g.52416814G>T" "" "{PMID:Tang 2020:32203251}" "" "" "" "Germline" "" "" "0" "" "" "g.52124617G>T" "" "pathogenic (recessive)" "" "0000981293" "0" "30" "15" "52442128" "52442128" "subst" "0" "01804" "GNB5_000021" "g.52442128G>A" "" "" "" "GNB5(NM_016194.4):c.376-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020112" "3" "30" "15" "52427826" "52427826" "subst" "0.00023998" "00006" "GNB5_000008" "g.52427826T>C" "" "{PMID:Bayam 2024:39609633}" "" "" "no match with the clinical features homozygous patients" "Germline" "" "" "0" "" "" "g.52135629T>C" "" "likely benign" "" "0001022078" "0" "90" "15" "52471964" "52471964" "subst" "0" "04796" "GNB5_000005" "g.52471964C>G" "" "" "" "NM_006578.3:c.112+1G>C" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.52179767C>G" "" "pathogenic" "" "0001040439" "0" "50" "15" "52442108" "52442108" "subst" "0" "01804" "GNB5_000022" "g.52442108G>C" "" "" "" "GNB5(NM_016194.4):c.390C>G (p.(Ile130Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 GNB5 ## Count = 51 "{{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}}" "0000169048" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344*)" "" "0000169049" "00025738" "90" "375" "3" "375" "3" "c.375+3A>G" "r.spl?" "p.?" "" "0000554778" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000554779" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000554780" "00025738" "70" "368" "0" "368" "0" "c.368C>G" "r.(?)" "p.(Ser123Trp)" "" "0000554781" "00025738" "70" "238" "1" "238" "1" "c.238+1G>C" "r.spl?" "p.?" "" "0000554782" "00025738" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000623258" "00025738" "50" "1056" "0" "1056" "0" "c.1056G>T" "r.(?)" "p.(Trp352Cys)" "" "0000806763" "00025738" "50" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0000863897" "00025738" "50" "368" "0" "368" "0" "c.368C>G" "r.(?)" "p.(Ser123Trp)" "" "0000878653" "00025738" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Met)" "" "0000935900" "00025738" "90" "127" "-1" "238" "1" "c.(126+1_127-1)_(238+1_239-1)del" "r.?" "p.?" "2i_3i" "0000971568" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971569" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971570" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971571" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971572" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971578" "00025738" "90" "375" "0" "375" "0" "c.375G>A" "r.375_376ins375+1_375+25" "p.Asp126ValfsTer52" "" "0000971579" "00025738" "90" "375" "0" "375" "0" "c.375G>A" "r.375_376ins375+1_375+25" "pAsp126ValfsTer52)" "" "0000971580" "00025738" "90" "375" "1" "375" "1" "c.375+1G>T" "r.spl" "p.(Asp126LeufsTer31)" "" "0000971581" "00025738" "90" "375" "3" "375" "3" "c.375+3A>G" "r.spl" "p.(Asp126LeufsTer31)" "" "0000971582" "00025738" "90" "375" "3" "375" "3" "c.375+3A>G" "r.spl" "p.(Asp126LeufsTer31)" "" "0000971583" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.spl" "p.(Tyr344Ter)" "" "0000971584" "00025738" "70" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344Ter)" "" "0000971585" "00025738" "70" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971586" "00025738" "70" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971587" "00025738" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Ter)" "" "0000971588" "00025738" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Ter)" "" "0000971594" "00025738" "90" "262" "0" "262" "0" "c.262del" "r.(?)" "p.(Glu88ArgfsTer8)" "" "0000971595" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344Ter)" "" "0000971596" "00025738" "90" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ser123Ter)" "" "0000971597" "00025738" "90" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ser123Ter)" "" "0000971598" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344*)" "" "0000971603" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344*)" "" "0000971608" "00025738" "90" "348" "0" "352" "0" "c.348_352del" "r.(?)" "p.(Asp116Glufs*52)" "" "0000971609" "00025738" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "0000971610" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971611" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971612" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971613" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971614" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971615" "00025738" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "p.(Ala161Profs*16)" "" "0000971619" "00025738" "90" "348" "0" "352" "0" "c.348_352del" "r.(?)" "p.(Asp116Glufs*52)" "" "0000971620" "00025738" "90" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Arg288Gln)" "" "0000971621" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>A" "r.(?)" "p.(Tyr344*)" "" "0000971622" "00025738" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Cys153Tyr)" "" "0000971623" "00025738" "90" "1032" "0" "1032" "0" "c.1032C>A" "r.(?)" "p.(Tyr344*)" "" "0000981293" "00025738" "30" "376" "-6" "376" "-6" "c.376-6C>T" "r.(=)" "p.(=)" "" "0001020112" "00025738" "30" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asn252Ser)" "" "0001022078" "00025738" "90" "238" "1" "238" "1" "c.238+1G>C" "r.[238_239insCTGA,=]" "p.[Leu79ProfsTer39,=]" "3i" "0001040439" "00025738" "50" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Ile130Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000104368" "0000169048" "0000104369" "0000169049" "0000418789" "0000878653" "0000439771" "0000935900" "0000445596" "0001020112" "0000449962" "0000971568" "0000449963" "0000971569" "0000449964" "0000971570" "0000449965" "0000971571" "0000449966" "0000971572" "0000449967" "0000971578" "0000449967" "0000971587" "0000449968" "0000971579" "0000449968" "0000971588" "0000449969" "0000971580" "0000449970" "0000971581" "0000449971" "0000971582" "0000449972" "0000971583" "0000449973" "0000971584" "0000449974" "0000971585" "0000449975" "0000971586" "0000449980" "0000971594" "0000449981" "0000971595" "0000449982" "0000971596" "0000449983" "0000971597" "0000449984" "0000971598" "0000449985" "0000971603" "0000449986" "0000971608" "0000449986" "0000971609" "0000449987" "0000971610" "0000449988" "0000971611" "0000449989" "0000971612" "0000449990" "0000971613" "0000449991" "0000971614" "0000449992" "0000971615" "0000449994" "0000971619" "0000449994" "0000971620" "0000449995" "0000971621" "0000449996" "0000971622" "0000449996" "0000971623" "0000462551" "0001022078"