### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPIA) # 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}}" "RPIA" "ribose 5-phosphate isomerase A" "2" "p11.2" "unknown" "NG_016710.1" "UD_132118242247" "" "https://www.LOVD.nl/RPIA" "" "1" "10297" "22934" "180430" "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/RPIA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-25 17:22:01" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018074" "RPIA" "ribose 5-phosphate isomerase A" "001" "NM_144563.2" "" "NP_653164.2" "" "" "" "-41" "1793" "936" "88991176" "89050452" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02770" "RPIAD" "ribose-5-phosphate isomerase deficiency (RPIAD)" "AR" "608611" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-25 17:21:16" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RPIA" "02770" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00226142" "" "" "" "1" "" "03219" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "3-generation family, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "FamPatIII1" "00308019" "" "" "" "1" "" "00006" "{PMID:Van Der Knaap 1999:10589548}, {PMID:Huck 2004:14988808}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "" "00308020" "" "" "" "1" "" "00006" "{PMID:Naik 2017:28801340}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "patient" "00308021" "" "" "" "1" "" "00006" "{PMID:Brooks 2018:30088433}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" "00308036" "" "" "" "2" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, several affected, unaffected heterozygous carrier parents" "" "yes" "Germany" "" "0" "" "" "" "Pat15" "00333914" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "F" "" "(United States)" "" "0" "" "" "" "285" "00374826" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4014" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00226142" "02770" "00308019" "00198" "00308020" "00198" "00308021" "00198" "00308036" "00198" "00333914" "04214" "00374826" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02770, 04214 ## Count = 7 "{{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}}" "0000233444" "02770" "00226142" "03219" "Familial, autosomal recessive" "" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity" "" "" "" "" "" "" "" "" "" "" "" "0000233445" "00198" "00308019" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; opic atrophy; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; EEG progressive background slowing and increasing epileptic activity; nerve conduction velocity polyneuropathy" "" "" "" "" "" "" "" "" "RPIAD" "leukoencephalopathy, peripheral neuropathy" "" "0000233446" "00198" "00308020" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; no ataxia; spasticity; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; increased polyol levels magnetic resonance spectroscopy; unilateral sensorineural hearing loss; EEG asymmetric background slowing, independent epileptiform activity; normal nerve conduction velocity" "00y06m" "" "" "" "" "" "" "" "RPIAD" "slowly progressive leukoencephalopathy" "" "0000233447" "00198" "00308021" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., developmental delay; speech delay; no epilepsy; no regression; dysarthria; nystagmus; ataxia; spasticity; normal deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; exotropia; cerebral white matter abnormalities; conductive hearing loss" "" "" "" "" "" "" "" "" "RPIAD" "neonatal onset leukoencephalopathy, psychomotor delays" "" "0000233462" "00198" "00308036" "00006" "Familial, autosomal recessive" "" "severe global developmental delay, tapetoretinal degeneration, coordination disorder" "" "" "" "" "" "" "" "" "RPIAD" "developmental delay" "" "0000252099" "04214" "00333914" "00000" "Familial, autosomal recessive" "21y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270036" "00198" "00374826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, leukodystrophy, intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000227218" "00226142" "1" "03219" "03219" "2019-02-28 07:37:43" "" "" "-" "DNA" "" "" "0000309163" "00308019" "1" "00006" "00006" "2020-08-25 17:27:43" "00006" "2020-08-25 17:34:30" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000309164" "00308020" "1" "00006" "00006" "2020-08-25 17:42:09" "" "" "SEQ" "DNA" "" "" "0000309165" "00308021" "1" "00006" "00006" "2020-08-25 18:33:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309180" "00308036" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000335140" "00333914" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000376020" "00374826" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000309163" "RPIA" "0000309164" "RPIA" "0000309165" "RPIA" "0000309180" "RPIA" "0000335140" "RPIA" "0000376020" "RPIA" ## 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 = 12 "{{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}}" "0000461271" "3" "70" "2" "89037525" "89037525" "subst" "0" "03219" "RPIA_000001" "g.89037525T>C" "" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "" "" "" "Germline" "" "" "0" "" "" "g.88738008T>C" "" "VUS" "" "0000683645" "21" "90" "2" "89037517" "89037517" "del" "0" "00006" "RPIA_000002" "g.89037517del" "" "{PMID:Huck 2004:14988808}" "" "540delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683646" "11" "90" "2" "89028797" "89028797" "subst" "1.62489E-5" "00006" "RPIA_000003" "g.89028797C>T" "" "{PMID:Huck 2004:14988808}" "" "182C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683647" "3" "90" "2" "89035250" "89035250" "subst" "0" "00006" "RPIA_000004" "g.89035250T>C" "" "{PMID:Naik 2017:28801340}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683648" "21" "50" "2" "88991469" "88991469" "subst" "0" "00006" "RPIA_000005" "g.88991469G>A" "" "{PMID:Brooks 2018:30088433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000683649" "11" "90" "2" "88999526" "88999526" "subst" "0" "00006" "RPIA_000006" "g.88999526G>A" "" "{PMID:Brooks 2018:30088433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683680" "3" "90" "2" "89036082" "89036082" "subst" "0" "00006" "RPIA_000007" "g.89036082G>C" "" "{PMID:Mahler 2019:31056085}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000733149" "1" "70" "2" "89037591" "89037591" "del" "0" "00000" "RPIA_000009" "g.89037591del" "" "{PMID:Stone 2017:28559085}" "" "834delC" "" "Germline" "" "" "0" "" "" "g.88738074del" "" "likely pathogenic" "" "0000733593" "2" "70" "2" "89037582" "89037582" "subst" "0" "00000" "RPIA_000008" "g.89037582A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.88738065A>G" "" "likely pathogenic" "" "0000787371" "3" "50" "2" "89035250" "89035250" "subst" "0" "00006" "RPIA_000004" "g.89035250T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.88735733T>C" "" "VUS" "" "0000800844" "0" "50" "2" "88991299" "88991299" "subst" "0" "01943" "RPIA_000010" "g.88991299G>C" "" "" "" "RPIA(NM_144563.2):c.83G>C (p.G28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050727" "0" "50" "2" "89028797" "89028797" "subst" "1.62489E-5" "01804" "RPIA_000003" "g.89028797C>T" "" "" "" "RPIA(NM_144563.3):c.404C>T (p.(Ala135Val))" "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 RPIA ## Count = 12 "{{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}}" "0000461271" "00018074" "70" "770" "0" "770" "0" "c.770T>C" "r.(770u>c)" "p.(Ile257Thr)" "8" "0000683645" "00018074" "90" "762" "0" "762" "0" "c.762del" "r.762del" "p.Asn255Ilefs*17" "" "0000683646" "00018074" "90" "404" "0" "404" "0" "c.404C>T" "r.404c>u" "p.Ala135Val" "" "0000683647" "00018074" "90" "592" "0" "592" "0" "c.592T>C" "r.(?)" "p.(Phe198Leu)" "" "0000683648" "00018074" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "" "0000683649" "00018074" "90" "347" "-1" "347" "-1" "c.347-1G>A" "r.spl" "p.?" "" "0000683680" "00018074" "90" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Trp209Cys)" "" "0000733149" "00018074" "70" "836" "0" "836" "0" "c.836del" "r.(?)" "p.(Pro279Glnfs*25)" "" "0000733593" "00018074" "70" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "0000787371" "00018074" "50" "592" "0" "592" "0" "c.592T>C" "r.(?)" "p.(Phe198Leu)" "6" "0000800844" "00018074" "50" "83" "0" "83" "0" "c.83G>C" "r.(?)" "p.(Gly28Ala)" "" "0001050727" "00018074" "50" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ala135Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000227218" "0000461271" "0000309163" "0000683645" "0000309163" "0000683646" "0000309164" "0000683647" "0000309165" "0000683648" "0000309165" "0000683649" "0000309180" "0000683680" "0000335140" "0000733149" "0000335140" "0000733593" "0000376020" "0000787371"