### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPRY4) # 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}}" "SPRY4" "sprouty homolog 4 (Drosophila)" "5" "q31.3" "unknown" "NG_034148.1" "UD_136075934176" "" "https://www.LOVD.nl/SPRY4" "" "1" "15533" "81848" "607984" "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/SPRY4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-02-08 17:51:39" "00000" "2025-07-08 13:22:38" ## 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}}" "00025495" "SPRY4" "transcript variant 1" "002" "NM_030964.3" "" "NP_112226.2" "" "" "" "-241" "4751" "969" "141704620" "141689992" "00006" "2020-02-08 17:53:01" "" "" ## 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" "03870" "HH17" "hypogonadism, hypogonadotropic, type 17 with/without anosmia (HH-17)" "AD" "615266" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SPRY4" "03870" ## 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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00285888" "" "" "" "1" "" "00006" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "SAG150" "00293769" "" "" "" "12" "" "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 = 3 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00285888" "04327" "00293769" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03870, 04327 ## Count = 2 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000219730" "04327" "00285888" "00006" "Isolated (sporadic)" "" "sagittal craniosynostosis" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" ## 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}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000287046" "00285888" "1" "00006" "00006" "2020-02-08 17:47:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294937" "00293769" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000287046" "SPRY4" ## 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 = 9 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000344308" "0" "30" "5" "141694117" "141694117" "subst" "0.00217345" "02327" "SPRY4_000002" "g.141694117C>T" "" "" "" "SPRY4(NM_030964.5):c.626G>A (p.C209Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142314552C>T" "" "likely benign" "" "0000348855" "0" "30" "5" "141694021" "141694021" "subst" "0.00448706" "02327" "SPRY4_000001" "g.141694021G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142314456G>T" "" "likely benign" "" "0000524612" "0" "30" "5" "141694008" "141694008" "subst" "0.000191312" "01943" "SPRY4_000003" "g.141694008G>A" "" "" "" "SPRY4(NM_001293289.1):c.666C>T (p.H222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142314443G>A" "" "likely benign" "" "0000642785" "0" "90" "5" "141694196" "141694196" "subst" "0" "00006" "SPRY4_000005" "g.141694196C>A" "" "{PMID:Timberlake 2016:27606499}, {DOI:Timberlake 2016:10.7554/eLife.20125}" "" "G478T (Glu160*)" "" "De novo" "" "" "0" "" "" "g.142314631C>A" "" "pathogenic (dominant)" "" "0000651626" "1" "50" "5" "141694021" "141694021" "subst" "0.00448706" "03575" "SPRY4_000001" "g.141694021G>T" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs139512218}" "Germline" "" "rs139512218" "0" "" "" "g.142314456G>T" "" "VUS" "" "0000859791" "0" "30" "5" "141694467" "141694467" "subst" "1.65681E-5" "01943" "SPRY4_000006" "g.141694467G>A" "" "" "" "SPRY4(NM_001293289.1):c.207C>T (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948500" "0" "30" "5" "141694117" "141694117" "subst" "0.00217345" "02325" "SPRY4_000002" "g.141694117C>T" "" "" "" "SPRY4(NM_030964.5):c.626G>A (p.C209Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976619" "0" "30" "5" "141694213" "141694213" "subst" "0.00161775" "01804" "SPRY4_000004" "g.141694213T>C" "" "" "" "SPRY4(NM_001127496.3):c.461A>G (p.(Lys154Arg))" "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 SPRY4 ## Count = 9 "{{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}}" "0000079500" "00025495" "90" "-4012906" "0" "8388607" "0" "c.-4012906_*17865250dup" "r.0?" "p.0?" "" "0000344308" "00025495" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Cys209Tyr)" "" "0000348855" "00025495" "30" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Ser241Tyr)" "" "0000524612" "00025495" "30" "735" "0" "735" "0" "c.735C>T" "r.(?)" "p.(His245=)" "" "0000642785" "00025495" "90" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Glu183*)" "" "0000651626" "00025495" "50" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Ser241Tyr)" "" "0000859791" "00025495" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Gly92=)" "" "0000948500" "00025495" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Cys209Tyr)" "" "0000976619" "00025495" "30" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Lys177Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000287046" "0000642785" "0000294937" "0000651626"