### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GGPS1) # 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}}" "GGPS1" "geranylgeranyl diphosphate synthase 1" "1" "q43" "unknown" "NC_000001.10" "UD_136087214155" "" "https://www.LOVD.nl/GGPS1" "" "1" "4249" "9453" "606982" "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/GGPS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-30 18:33:06" "00006" "2026-03-12 19:29:59" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00008482" "GGPS1" "transcript variant 2" "001" "NM_001037277.1" "" "NP_001032354.1" "" "" "" "-84" "2663" "903" "235491753" "235507847" "" "0000-00-00 00:00:00" "" "" "00026070" "GGPS1" "transcript variant 1 (removed from reference sequence)" "000" "NM_004837.4" "" "NP_004828.1" "" "" "MANE select" "-232" "2663" "903" "1" "1" "00006" "2026-03-11 21:47:23" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "07245" "MDHLO" "muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome" "AR" "619518" "" "" "" "00006" "2026-03-11 21:46:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GGPS1" "07245" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00315946" "" "" "" "2" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, affected sister/brother, unaffected parents" "F" "" "Ireland;Germany;Poland" "" "0" "" "" "" "Fam1Pat1" "00315947" "" "" "00315946" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "brother" "M" "" "Ireland;Germany;Poland" "" "0" "" "" "" "Fam1Pat2" "00315948" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2Pat3" "00315949" "" "" "" "3" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "F" "" "Morocco" "" "0" "" "" "" "Fam3Pat4" "00315950" "" "" "00315949" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "brother" "M" "" "Morocco" "" "0" "" "" "" "Fam3Pat5" "00315951" "" "" "00315949" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "" "Morocco" "" "0" "" "" "" "Fam3Pat6" "00315952" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "China" "" "0" "" "" "Han" "Fam4Pat7" "00315953" "" "" "" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Algeria" "" "0" "" "" "" "Fam5Pat8" "00315954" "" "" "" "3" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat9" "00315955" "" "" "00315954" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat10" "00315956" "" "" "00315954" "1" "" "00006" "{PMID:Reghan Foley 2020:32403198}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6Pat11" "00472225" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "F" "" "France" "" "0" "" "" "" "" "00474160" "" "" "" "1" "" "00006" "{PMID:Rahmuni 2026:41742649}" "patient" "" "" "Morocco" "" "0" "" "" "" "" "00474163" "" "" "" "3" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam1Pat1" "00474164" "" "" "00474163" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "sister" "F" "yes" "Iran" "11m" "0" "" "" "" "Fam1Pat2" "00474165" "" "" "00474163" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "Fam1Pat3" "00474166" "" "" "" "6" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "5-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat4" "00474167" "" "" "00474166" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "relative" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat5" "00474168" "" "" "00474166" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "relative" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat6" "00474169" "" "" "00474166" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "relative" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat7" "00474170" "" "" "00474166" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "relative" "M" "yes" "Egypt" "" "0" "" "" "" "Fam2Pat8" "00474171" "" "" "00474166" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "relative" "F" "yes" "Egypt" "30y" "0" "" "" "" "Fam2Pat9" "00474172" "" "" "" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam3Pat10" "00474173" "" "" "" "1" "" "00006" "{PMID:Kaiyrzhanov 2022:35869884}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam4Pat11" "00474174" "" "" "" "2" "" "00006" "{PMID:Tucker 2020:32399598}, {PMID:Kaiyrzhanov 2022:35869884}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "?;Fam5Pat12" "00474175" "" "" "00474174" "1" "" "00006" "{PMID:Tucker 2020:32399598}, , {PMID:Kaiyrzhanov 2022:35869884}" "brother" "M" "yes" "Australia" "" "0" "" "" "" "?;Fam5Pat13" "00474181" "" "" "" "3" "" "00006" "{PMID:Tucker 2020:32399598}" "2-generation family, 3 affected (brother/2 sisters), unaffected parents" "F" "" "Morocco" "" "0" "" "" "Tuareg" "Fam6Pat6" "00474182" "" "" "00474181" "1" "" "00006" "{PMID:Tucker 2020:32399598}" "sister" "F" "" "Morocco" "" "0" "" "" "Tuareg" "Fam6Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00315946" "00198" "00315947" "00198" "00315948" "00198" "00315949" "00198" "00315950" "00198" "00315951" "00198" "00315952" "00198" "00315953" "00198" "00315954" "00198" "00315955" "00198" "00315956" "00198" "00472225" "00198" "00474160" "05121" "00474163" "05121" "00474164" "05121" "00474165" "05121" "00474166" "05121" "00474167" "05121" "00474168" "05121" "00474169" "05121" "00474170" "05121" "00474171" "05121" "00474172" "05121" "00474173" "05121" "00474174" "05121" "00474175" "05121" "00474181" "00616" "00474182" "00616" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00616, 05121, 07245 ## Count = 28 "{{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}}" "0000239691" "00198" "00315946" "00006" "Familial, autosomal recessive" "31y" "sensorineural hearing loss; 11y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 18,025U/l; primary ovarian failure; failure to thrive" "" "28y" "" "" "" "" "" "" "" "" "" "0000239692" "00198" "00315947" "00006" "Familial, autosomal recessive" "29y" "sensorineural hearing loss; 13y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 11,25U/l; failure to thrive" "" "26y" "" "" "" "" "" "" "" "" "" "0000239693" "00198" "00315948" "00006" "Familial, autosomal recessive" "22y" "sensorineural hearing loss; 15y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 6,641U/l; failure to thrive" "" "21y" "" "" "" "" "" "" "" "" "" "0000239694" "00198" "00315949" "00006" "Familial, autosomal recessive" "46y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 336U/l; primary ovarian failure; no failure to thrive" "" "44y" "" "" "" "" "" "" "" "" "" "0000239695" "00198" "00315950" "00006" "Familial, autosomal recessive" "45y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 4,9U/l; failure to thrive" "" "42y" "" "" "" "" "" "" "" "" "" "0000239696" "00198" "00315951" "00006" "Familial, autosomal recessive" "44y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 281U/l; primary ovarian failure; no failure to thrive" "" "43y" "" "" "" "" "" "" "" "" "" "0000239697" "00198" "00315952" "00006" "Familial, autosomal recessive" "14y" "sensorineural hearing loss; ambulant; respiratory insufficiency; no scoliosis; maximal recorded CK 14,143U/l; primary ovarian failure uncertain due to age; failure to thrive" "" "14y" "" "" "" "" "" "" "" "" "" "0000239698" "00198" "00315953" "00006" "Familial, autosomal recessive" "21y" "sensorineural hearing loss; maximal recorded CK 1,6U/l" "" "14y" "" "" "" "" "" "" "" "" "" "0000239699" "00198" "00315954" "00006" "Familial, autosomal recessive" "22y" "sensorineural hearing loss; 12y-wheelchair bound; respiratory insufficiency; scoliosis; maximal recorded CK 3,633U/l; failure to thrive" "" "18y" "" "" "" "" "" "" "" "" "" "0000239700" "00198" "00315955" "00006" "Familial, autosomal recessive" "11y" "no sensorineural hearing loss; 11y-wheelchair bound; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive" "" "7y" "" "" "" "" "" "" "" "" "" "0000239701" "00198" "00315956" "00006" "Familial, autosomal recessive" "8y" "sensorineural hearing loss; ambulant; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive" "" "4y" "" "" "" "" "" "" "" "" "" "0000357034" "00198" "00472225" "04653" "Familial, autosomal recessive" "" "Hearing impairment, Proximal muscle weakness in lower limbs, Elevated serum creatinine kinase" "" "" "" "" "" "" "" "" "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome" "LGMD" "" "0000358960" "05121" "00474160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy" "" "0000358963" "05121" "00474163" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; respiratory insufficiency; no cardiac involvement; 7y-loss ambulation; no progressive scoliosis; short stature; no hypotonia; muscular atrophy; no ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358964" "05121" "00474164" "00006" "Familial, autosomal recessive" "11m" "see paper; ..., 11m-deceased; slow progressions; sensorineural hearing loss; respiratory insufficiency; no cardiac involvement; no hypotonia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358965" "05121" "00474165" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; respiratory insufficiency; no cardiac involvement; 7y-loss ambulation; progressive scoliosis; short stature; no hypotonia; muscular atrophy; no ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358966" "05121" "00474166" "00006" "Familial, autosomal recessive" "23y6m" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 4y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358967" "05121" "00474167" "00006" "Familial, autosomal recessive" "4y8m" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358968" "05121" "00474168" "00006" "Familial, autosomal recessive" "5y7m" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 1.2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358969" "05121" "00474169" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 1y6m-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358970" "05121" "00474170" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 2y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358971" "05121" "00474171" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., slow progressions; no failure to thrive; no sensorineural hearing loss; 3y-progressive muscle weakness; no cardiac involvement; hypotonia; muscular atrophy; ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358972" "05121" "00474172" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., slow progressions; no failure to thrive; sensorineural hearing loss; 7m-progressive muscle weakness; joint contractures; espiratory insufficiency; primary ovarian insufficiency; no cardiac involvement; progressive scoliosis; short stature; hypotonia; muscular atrophy; no ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358973" "05121" "00474173" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., slow progressions; no failure to thrive; sensorineural hearing loss; 1y6m-progressive muscle weakness; joint contractures; espiratory insufficiency; no cardiac involvement; 9y-loss ambulation; progressive scoliosis; no short stature; hypotonia; muscular atrophy" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358974" "05121" "00474174" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., moderate progressions; no failure to thrive; no sensorineural hearing loss; no progressive muscle weakness; joint contractures; espiratory insufficiency; no primary ovarian insufficiency; no cardiac involvement; 11y-loss ambulation; progressive scoliosis; short stature; hypotonia; muscular atrophy; no ataxia" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358975" "05121" "00474175" "00006" "Familial, autosomal recessive" "8y6m" "see paper; ..., slow progressions; failure to thrive; sensorineural hearing loss; 12y-progressive muscle weakness; joint contractures; no espiratory insufficiency; no cardiac involvement; no-loss ambulation; short stature; hypotonia; muscular atrophy" "" "" "" "" "" "" "" "" "MDHLO" "muscular dystrophy, hearing loss" "" "0000358981" "00616" "00474181" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, 15y-menarche, oligomenorrhea; myopathy, muscle fatigue, difficulty climbing stairs, pain after exertion" "" "" "" "" "" "" "" "" "MDHLO" "Perrault syndrome" "" "0000358982" "00616" "00474182" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., sensorineural hearing loss; premature ovarian insufficiency, late puberty, 15y-thelarche, 17y-menarche, irregular menstrual cycles; myopathy, fatigue, difficulty climbing stairs" "" "" "" "" "" "" "" "" "MDHLO" "Perrault syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000317128" "00315946" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317129" "00315947" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317130" "00315948" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317131" "00315949" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317132" "00315950" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317133" "00315951" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317134" "00315952" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317135" "00315953" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317136" "00315954" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317137" "00315955" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317138" "00315956" "1" "00006" "00006" "2020-10-30 18:31:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473895" "00472225" "1" "04653" "04653" "2026-01-19 14:52:22" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000475838" "00474160" "1" "00006" "00006" "2026-03-12 08:42:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475841" "00474163" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475842" "00474164" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475843" "00474165" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475844" "00474166" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475845" "00474167" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475846" "00474168" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475847" "00474169" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475848" "00474170" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475849" "00474171" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475850" "00474172" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475851" "00474173" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475852" "00474174" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475853" "00474175" "1" "00006" "00006" "2026-03-12 14:52:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475859" "00474181" "1" "00006" "00006" "2026-03-12 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475860" "00474182" "1" "00006" "00006" "2026-03-12 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000317128" "GGPS1" "0000317129" "GGPS1" "0000317130" "GGPS1" "0000317131" "GGPS1" "0000317132" "GGPS1" "0000317133" "GGPS1" "0000317134" "GGPS1" "0000317135" "GGPS1" "0000317136" "GGPS1" "0000317137" "GGPS1" "0000317138" "GGPS1" ## 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 = 35 "{{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}}" "0000699318" "1" "90" "1" "235505960" "235505960" "subst" "0" "00006" "GGPS1_000003" "g.235505960A>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "860A>G" "" "Germline" "" "" "0" "" "" "g.235342645A>G" "" "pathogenic (recessive)" "" "0000699319" "1" "90" "1" "235505960" "235505960" "subst" "0" "00006" "GGPS1_000003" "g.235505960A>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "860A>G" "" "Germline" "" "" "0" "" "" "g.235342645A>G" "" "pathogenic (recessive)" "" "0000699320" "1" "90" "1" "235498622" "235498622" "subst" "0" "00006" "GGPS1_000001" "g.235498622C>T" "" "{PMID:Reghan Foley 2020:32403198}" "" "127C>T" "" "Germline" "" "" "0" "" "" "g.235335307C>T" "" "pathogenic (recessive)" "" "0000699321" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699322" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699323" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699324" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Reghan Foley 2020:32403198}" "" "866G>A" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0000699325" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699326" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699327" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699328" "3" "90" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "854T>G" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "pathogenic (recessive)" "" "0000699329" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000699330" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000699331" "2" "90" "1" "235505965" "235505965" "subst" "4.0622E-6" "00006" "GGPS1_000004" "g.235505965C>G" "" "{PMID:Reghan Foley 2020:32403198}" "" "865C>G" "" "Germline" "" "" "0" "" "" "g.235342650C>G" "" "pathogenic (recessive)" "" "0000857344" "0" "90" "1" "235505954" "235505954" "subst" "0" "01804" "GGPS1_000002" "g.235505954T>G" "" "" "" "GGPS1(NM_001037277.1):c.770T>G (p.(Phe257Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910979" "0" "50" "1" "235505320" "235505320" "dup" "0" "02329" "GGPS1_000006" "g.235505320dup" "" "" "" "GGPS1(NM_001371478.1):c.142-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910980" "0" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "02329" "GGPS1_000005" "g.235505966G>A" "" "" "" "GGPS1(NM_001371478.1):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001062852" "3" "70" "1" "235505966" "235505966" "subst" "2.43742E-5" "04653" "GGPS1_000005" "g.235505966G>A" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.235342651G>A" "" "pathogenic" "ACMG" "0001070550" "3" "70" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Rahmuni 2026:41742649}" "" "" "" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "likely pathogenic (recessive)" "" "0001070558" "3" "70" "1" "235505453" "235505453" "subst" "0" "00006" "chr1_018342" "g.235505453A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342138A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070559" "3" "70" "1" "235505453" "235505453" "subst" "0" "00006" "chr1_018342" "g.235505453A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342138A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070560" "3" "70" "1" "235505453" "235505453" "subst" "0" "00006" "chr1_018342" "g.235505453A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342138A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070561" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070562" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070563" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070564" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070565" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070566" "3" "70" "1" "235505623" "235505623" "subst" "4.06118E-6" "00006" "chr1_018343" "g.235505623A>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342308A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070567" "11" "50" "1" "235505729" "235505729" "subst" "0" "00006" "chr1_018344" "g.235505729T>C" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.235342414T>C" "" "VUS" "ACMG" "0001070568" "3" "50" "1" "235505954" "235505954" "subst" "0" "00006" "GGPS1_000002" "g.235505954T>G" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.235342639T>G" "" "VUS" "ACMG" "0001070569" "3" "70" "1" "235505453" "235505453" "subst" "0" "00006" "GGPS1_000007" "g.235505453A>G" "" "{PMID:Tucker 2020:32399598}, {PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342138A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070570" "3" "70" "1" "235505453" "235505453" "subst" "0" "00006" "chr1_018342" "g.235505453A>G" "" "{PMID:Tucker 2020:32399598}, {PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PS4, PP1_mod, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.235342138A>G" "" "likely pathogenic (recessive)" "ACMG" "0001070571" "21" "50" "1" "235505380" "235505380" "subst" "0" "00006" "chr1_018345" "g.235505380A>C" "" "{PMID:Kaiyrzhanov 2022:35869884}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.235342065A>C" "" "VUS" "ACMG" "0001070577" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Tucker 2020:32399598}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" "0001070578" "3" "90" "1" "235505966" "235505966" "subst" "2.43742E-5" "00006" "GGPS1_000005" "g.235505966G>A" "" "{PMID:Tucker 2020:32399598}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235342651G>A" "" "pathogenic (recessive)" "" ## 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 GGPS1 ## Count = 35 "{{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}}" "0000699318" "00008482" "90" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "" "0000699319" "00008482" "90" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "" "0000699320" "00008482" "90" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Pro15Ser)" "" "0000699321" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699322" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699323" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699324" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000699325" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699326" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699327" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699328" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000699329" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000699330" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000699331" "00008482" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000857344" "00008482" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0000910979" "00008482" "50" "142" "-6" "142" "-6" "c.142-6dup" "r.(=)" "p.(=)" "" "0000910980" "00008482" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0001062852" "00008482" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Pro342Leu)" "4" "0001070550" "00026070" "70" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0001070558" "00026070" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0001070559" "00026070" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0001070560" "00026070" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0001070561" "00026070" "70" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070562" "00026070" "70" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070563" "00026070" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070564" "00026070" "70" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070565" "00026070" "70" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070566" "00026070" "70" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "" "0001070567" "00026070" "50" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Leu182Pro)" "" "0001070568" "00026070" "50" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Phe257Cys)" "" "0001070569" "00026070" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0001070570" "00026070" "70" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Asn90Ser)" "" "0001070571" "00026070" "50" "196" "0" "196" "0" "c.196A>C" "r.(?)" "p.(Ile66Leu)" "" "0001070577" "00026070" "50" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0001070578" "00026070" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000317128" "0000699318" "0000317128" "0000699329" "0000317129" "0000699319" "0000317129" "0000699330" "0000317130" "0000699320" "0000317130" "0000699331" "0000317131" "0000699321" "0000317132" "0000699322" "0000317133" "0000699323" "0000317134" "0000699324" "0000317135" "0000699325" "0000317136" "0000699326" "0000317137" "0000699327" "0000317138" "0000699328" "0000473895" "0001062852" "0000475838" "0001070550" "0000475841" "0001070558" "0000475842" "0001070559" "0000475843" "0001070560" "0000475844" "0001070561" "0000475845" "0001070562" "0000475846" "0001070563" "0000475847" "0001070564" "0000475848" "0001070565" "0000475849" "0001070566" "0000475850" "0001070567" "0000475850" "0001070571" "0000475851" "0001070568" "0000475852" "0001070569" "0000475853" "0001070570" "0000475859" "0001070577" "0000475860" "0001070578"