### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERAL1) # 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}}" "ERAL1" "Era G-protein-like 1 (E. coli)" "17" "q11.2" "unknown" "NC_000017.10" "UD_132463627106" "" "https://www.LOVD.nl/ERAL1" "" "1" "3424" "26284" "607435" "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/ERAL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-08-19 09:25:01" "00000" "2021-09-17 14:40:49" ## 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}}" "00007194" "ERAL1" "Era G-protein-like 1 (E. coli)" "001" "NM_005702.2" "" "NP_005693.1" "" "" "" "-10" "1815" "1314" "27182043" "27188072" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00616" "PRLTS" "Perrault syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-06 10:12:39" "05967" "PRLTS6" "Perrault syndrome, type 6 (PRLTS6)" "AR" "617565" "" "" "" "00006" "2021-08-19 09:05:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ERAL1" "00616" "ERAL1" "05967" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00380581" "" "" "" "1" "" "00006" "{PMID:Chatzispyrou 2017:28449065}" "2-generation family, 1 affected, unaffected parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat1" "00380582" "" "" "" "2" "" "00006" "{PMID:Chatzispyrou 2017:28449065}" "2-generation family, affected daughter/father, unaffected heterozygous mother and affected homozygous father" "F" "" "Netherlands" "" "0" "" "" "" "Pat2" "00380583" "" "" "" "1" "" "00006" "{PMID:Chatzispyrou 2017:28449065}" "2-generation family, 1 affected, unaffected parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00380581" "00616" "00380582" "00616" "00380583" "00616" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00616, 05967 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000274433" "00616" "00380581" "00006" "Familial, autosomal recessive" "66y" "see paper; ..." "" "" "" "" "" "" "" "PRLTS6" "Perrault syndrome" "0000274434" "00616" "00380582" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., 4y-sensorineural hearing loss; more severe in high frequencies, slowly progressive; 18y-primary amenorrhea, underdeveloped secondary sexual characteristics, abdominal ultrasound revealed streak ovaries and small uterus, ovary biopsy showed fibrous tissue without primordial follicles" "04y" "" "sensorineural hearing loss" "" "" "" "" "PRLTS6" "Perrault syndrome" "0000274435" "00616" "00380583" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PRLTS6" "Perrault syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000381794" "00380581" "1" "00006" "00006" "2021-08-19 09:13:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381795" "00380582" "1" "00006" "00006" "2021-08-19 09:13:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381796" "00380583" "1" "00006" "00006" "2021-08-19 09:13:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 13 "{{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}}" "0000325312" "0" "50" "17" "27183519" "27183519" "subst" "6.51338E-5" "01804" "ERAL1_000001" "g.27183519G>T" "" "" "" "ERAL1(NM_005702.2):c.412-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28856501G>T" "" "VUS" "" "0000325313" "0" "50" "17" "27183520" "27183520" "subst" "6.9229E-5" "01804" "ERAL1_000002" "g.27183520C>T" "" "" "" "ERAL1(NM_005702.2):c.412-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28856502C>T" "" "VUS" "" "0000560744" "0" "30" "17" "27184948" "27184948" "subst" "0" "01943" "ERAL1_000003" "g.27184948T>A" "" "" "" "ERAL1(NM_005702.4):c.490-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28857930T>A" "" "likely benign" "" "0000560745" "0" "50" "17" "27185427" "27185427" "subst" "8.12203E-6" "01943" "ERAL1_000004" "g.27185427C>T" "" "" "" "ERAL1(NM_005702.4):c.634C>T (p.R212W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28858409C>T" "" "VUS" "" "0000560746" "0" "90" "17" "27185500" "27185500" "subst" "0" "02327" "ERAL1_000005" "g.27185500A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28858482A>T" "" "pathogenic" "" "0000623639" "0" "30" "17" "27185682" "27185682" "subst" "0" "01943" "ERAL1_000006" "g.27185682G>C" "" "" "" "ERAL1(NM_001317985.1):c.797G>C (p.R266T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28858664G>C" "" "likely benign" "" "0000658072" "0" "50" "17" "27185829" "27185829" "subst" "0.000850811" "01943" "ERAL1_000007" "g.27185829T>C" "" "" "" "ERAL1(NM_001317985.1):c.944T>C (p.V315A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28858811T>C" "" "VUS" "" "0000726255" "0" "30" "17" "27186128" "27186128" "subst" "6.0935E-5" "01943" "ERAL1_000008" "g.27186128G>A" "" "" "" "ERAL1(NM_001317985.1):c.1104G>A (p.Q368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726256" "0" "50" "17" "27187533" "27187533" "subst" "0.000685688" "01943" "ERAL1_000009" "g.27187533G>A" "" "" "" "ERAL1(NM_001317985.1):c.1273G>A (p.D425N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795358" "3" "70" "17" "27185500" "27185500" "subst" "0" "00006" "ERAL1_000005" "g.27185500A>T" "" "{PMID:Chatzispyrou 2017:28449065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000795359" "3" "70" "17" "27185500" "27185500" "subst" "0" "00006" "ERAL1_000005" "g.27185500A>T" "" "{PMID:Chatzispyrou 2017:28449065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000795360" "3" "70" "17" "27185500" "27185500" "subst" "0" "00006" "ERAL1_000005" "g.27185500A>T" "" "{PMID:Chatzispyrou 2017:28449065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000807861" "0" "50" "17" "27182218" "27182218" "subst" "0" "01943" "ERAL1_000010" "g.27182218C>A" "" "" "" "ERAL1(NM_001317985.1):c.166C>A (p.R56S)" "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 ERAL1 ## Count = 13 "{{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}}" "0000325312" "00007194" "50" "412" "-4" "412" "-4" "c.412-4G>T" "r.spl?" "p.?" "" "0000325313" "00007194" "50" "412" "-3" "412" "-3" "c.412-3C>T" "r.spl?" "p.?" "" "0000560744" "00007194" "30" "490" "-9" "490" "-9" "c.490-9T>A" "r.(=)" "p.(=)" "" "0000560745" "00007194" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Trp)" "" "0000560746" "00007194" "90" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Asn236Ile)" "" "0000623639" "00007194" "30" "800" "0" "800" "0" "c.800G>C" "r.(?)" "p.(Arg267Thr)" "" "0000658072" "00007194" "50" "947" "0" "947" "0" "c.947T>C" "r.(?)" "p.(Val316Ala)" "" "0000726255" "00007194" "30" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Gln369=)" "" "0000726256" "00007194" "50" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Asp426Asn)" "" "0000795358" "00007194" "70" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Asn236Ile)" "" "0000795359" "00007194" "70" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Asn236Ile)" "" "0000795360" "00007194" "70" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Asn236Ile)" "" "0000807861" "00007194" "50" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Arg56Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000381794" "0000795358" "0000381795" "0000795359" "0000381796" "0000795360"