### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GDNF) # 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}}" "GDNF" "glial cell derived neurotrophic factor" "5" "p13.1-p12" "unknown" "NG_011675.2" "UD_132119126699" "" "http://www.LOVD.nl/GDNF" "" "1" "4232" "2668" "600837" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GDNF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-16 11:42:36" "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}}" "00008442" "GDNF" "transcript variant 1" "001" "NM_000514.3" "" "NP_000505.1" "" "" "" "-200" "3610" "636" "37839782" "37812779" "" "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" "00900" "CCHS" "hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)" "AD" "209880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03401" "HSCR3" "Hirschsprung disease, type 3 (HSCR-3)" "AD" "613711" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GDNF" "03401" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00081482" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00293868" "" "" "" "65" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293869" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305033" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00081482" "00900" "00293868" "00198" "00293869" "00198" "00305033" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00900, 03401 ## Count = 1 "{{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}}" "0000061084" "00900" "00081482" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); no Hirschsprung disease (-HP:0002251); no tumour" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081612" "00081482" "1" "00006" "00006" "2016-10-16 10:43:07" "00006" "2016-10-17 08:41:40" "PCR" "DNA" "" "" "0000295036" "00293868" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295037" "00293869" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306162" "00305033" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081612" "PHOX2B" ## 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 = 11 "{{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}}" "0000132305" "1" "50" "5" "37816112" "37816112" "subst" "0.00224213" "00006" "GDNF_000001" "g.37816112G>A" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "R83W" "" "Germline" "" "" "0" "" "" "g.37816010G>A" "" "VUS" "" "0000525690" "0" "50" "5" "37815756" "37815756" "subst" "0.000109666" "01943" "GDNF_000002" "g.37815756G>C" "" "" "" "GDNF(NM_000514.3):c.633C>G (p.(Ile211Met)), GDNF(NM_001190468.1):c.684C>G (p.I228M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37815654G>C" "" "VUS" "" "0000525691" "0" "30" "5" "37816112" "37816112" "subst" "0.00224213" "01943" "GDNF_000001" "g.37816112G>A" "" "" "" "GDNF(NM_000514.4):c.277C>T (p.(Arg93Trp), p.R93W), GDNF(NM_001190468.1):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37816010G>A" "" "likely benign" "" "0000651725" "1" "30" "5" "37814364" "37814364" "subst" "0" "03575" "GDNF_000003" "g.37814364T>C" "65/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "65 heterozygous; {DB:CLININrs78613670}" "Germline" "" "rs78613670" "0" "" "" "g.37814262T>C" "" "likely benign" "" "0000651726" "1" "30" "5" "37816112" "37816112" "subst" "0.00224213" "03575" "GDNF_000001" "g.37816112G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs36119840}" "Germline" "" "rs36119840" "0" "" "" "g.37816010G>A" "" "likely benign" "" "0000669850" "3" "30" "5" "37814364" "37814364" "subst" "0" "03575" "GDNF_000003" "g.37814364T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs78613670}" "Germline" "" "rs78613670" "0" "" "" "g.37814262T>C" "" "likely benign" "" "0000886837" "0" "30" "5" "37815941" "37815941" "subst" "0.00241224" "02326" "GDNF_000004" "g.37815941C>T" "" "" "" "GDNF(NM_000514.4):c.448G>A (p.D150N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886838" "0" "30" "5" "37816112" "37816112" "subst" "0.00224213" "02326" "GDNF_000001" "g.37816112G>A" "" "" "" "GDNF(NM_000514.4):c.277C>T (p.(Arg93Trp), p.R93W), GDNF(NM_001190468.1):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976795" "0" "30" "5" "37816097" "37816097" "subst" "0.000402135" "01804" "GDNF_000005" "g.37816097C>A" "" "" "" "GDNF(NM_000514.4):c.292G>T (p.(Ala98Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995048" "0" "30" "5" "37815756" "37815756" "subst" "0.000109666" "01804" "GDNF_000002" "g.37815756G>C" "" "" "" "GDNF(NM_000514.3):c.633C>G (p.(Ile211Met)), GDNF(NM_001190468.1):c.684C>G (p.I228M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051957" "0" "30" "5" "37816112" "37816112" "subst" "0.00224213" "01804" "GDNF_000001" "g.37816112G>A" "" "" "" "GDNF(NM_000514.4):c.277C>T (p.(Arg93Trp), p.R93W), GDNF(NM_001190468.1):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GDNF ## Count = 11 "{{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}}" "0000132305" "00008442" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "3" "0000525690" "00008442" "50" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Ile211Met)" "" "0000525691" "00008442" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000651725" "00008442" "30" "2025" "0" "2025" "0" "c.*1389A>G" "r.(=)" "p.(=)" "" "0000651726" "00008442" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000669850" "00008442" "30" "2025" "0" "2025" "0" "c.*1389A>G" "r.(=)" "p.(=)" "" "0000886837" "00008442" "30" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Asp150Asn)" "" "0000886838" "00008442" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000976795" "00008442" "30" "292" "0" "292" "0" "c.292G>T" "r.(?)" "p.(Ala98Ser)" "" "0000995048" "00008442" "30" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Ile211Met)" "" "0001051957" "00008442" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000081612" "0000132305" "0000295036" "0000651725" "0000295037" "0000651726" "0000306162" "0000669850"