### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RSPRY1) # 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}}" "RSPRY1" "ring finger and SPRY domain containing 1" "16" "q13" "unknown" "NC_000016.9" "UD_132378520192" "" "https://www.LOVD.nl/RSPRY1" "" "1" "29420" "89970" "616585" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/RSPRY1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-06 19:52:53" "00000" "2025-05-05 21:14:00" ## 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}}" "00018276" "RSPRY1" "ring finger and SPRY domain containing 1" "001" "NM_133368.1" "" "NP_588609.1" "" "" "" "-278" "1794" "1731" "57220241" "57272950" "" "0000-00-00 00:00:00" "" "" ## 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" "05193" "SEMDFA" "dysplasia, spondylopeimetaphyseal, Faden-Alkuraya type (SEMDFA)" "AR" "616723" "" "" "" "00006" "2016-10-11 10:19:22" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RSPRY1" "05193" ## 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}}" "00065289" "" "" "" "4" "" "01606" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "2-generation family, 4 affecteds (3F, M), unaffected heterozygous carrier parents, patientIV1" "F" "yes" "Saudi Arabia" ">18y" "0" "" "" "" "26365341-Fam1PatIV1" "00065290" "" "" "00065289" "1" "" "01606" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "patient IV2" "F" "yes" "Saudi Arabia" ">16y" "0" "" "" "" "26365341-Fam1PatIV2" "00065291" "" "" "00065289" "1" "" "01606" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "patient IV3" "F" "yes" "Saudi Arabia" ">13y" "0" "" "" "" "26365341-Fam1PatIV3" "00065292" "" "" "00065289" "1" "" "01606" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "patient IV6" "M" "yes" "Saudi Arabia" ">09y06m" "0" "" "" "" "26365341-Fam1PatIV6" "00065293" "" "" "" "1" "" "01606" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Canada" ">07y06m" "0" "" "" "Peruvian" "26365341-Fam2PatII1" "00331557" "" "" "" "4" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 4 affected (4F)" "F" "yes" "" "" "0" "" "" "Arab" "12DG1385 ,12DG1386, 12DG1387,12DG1400" "00444508" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00065289" "00198" "00065290" "00198" "00065291" "00198" "00065292" "00198" "00065293" "05193" "00331557" "05517" "00444508" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05193, 05517, 05611 ## 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}}" "0000051402" "00198" "00065289" "01606" "Familial, autosomal recessive" "18y" "Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273)" "" "" "" "" "" "" "" "" "" "Progressive Skeletal Dysplasia" "" "0000051403" "00198" "00065290" "01606" "Familial, autosomal recessive" "16y" "Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273)" "" "" "" "" "" "" "" "" "" "Progressive Skeletal Dysplasia" "" "0000051406" "00198" "00065291" "01606" "Familial, autosomal recessive" "13y" "Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273)" "" "" "" "" "" "" "" "" "" "Progressive Skeletal Dysplasia" "" "0000051407" "00198" "00065292" "01606" "Familial, autosomal recessive" "09y06m" "Short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), Craniosynostosis (HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273)" "" "" "" "" "" "" "" "" "" "Progressive Skeletal Dysplasia" "" "0000073557" "05193" "00065293" "01606" "Familial, autosomal recessive" "07y06m" "diagnosed as Progressive Skeletal Dysplasia; short stature (HP:0004322), Intellectual disability (HP:0001249), Motor delay (HP:0001270), Delayed skeletal maturation (HP:0002750), Microcephaly (HP:0000252), Abnormal facial shape (HP:0001999), Overlapping toe (HP:0001845), Scoliosis (HP:0002650), no craniosynostosis (-HP:0001363), Carpal bone hypoplasia (HP:0001498), Platyspondyly (HP:0000926), Short femoral neck (HP:0100864), Short fourth metatarsal (HP:0004689), Cupped metaphyses of hand bones (HP:0004273)" "" "" "" "" "" "" "" "" "" "" "" "0000249749" "05517" "00331557" "00000" "Familial, autosomal recessive" "" "Short stature, Plagiocephaly, Oxycephaly, Low-set ears, Frontal bossing, Hypertolerism, EpNo" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000333761" "05611" "00444508" "00006" "Familial, autosomal recessive" "10y-20y" "Craniosynostosis, mild global developmental delay, bilateral microtia, strabismus, choanal stenosis, short stature (-2 SD)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" ## 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}}" "0000065442" "00065289" "1" "01606" "01606" "2016-05-26 16:36:09" "00006" "2016-10-11 12:35:01" "arraySNP;SEQ" "DNA" "" "" "0000065443" "00065290" "1" "01606" "01606" "2016-05-26 16:46:14" "" "" "SEQ" "DNA" "" "" "0000065444" "00065291" "1" "01606" "01606" "2016-05-27 09:05:40" "" "" "SEQ" "DNA" "" "" "0000065445" "00065292" "1" "01606" "01606" "2016-05-27 09:14:18" "" "" "SEQ" "DNA" "" "" "0000065446" "00065293" "1" "01606" "01606" "2016-05-27 09:26:07" "" "" "SEQ" "DNA" "" "" "0000332776" "00331557" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446076" "00444508" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000065442" "RSPRY1" "0000065443" "RSPRY1" "0000065444" "RSPRY1" "0000065445" "RSPRY1" "0000065446" "RSPRY1" "0000332776" "RSPRY1" ## 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}}" "0000097130" "3" "90" "16" "57264628" "57264628" "dup" "0" "01606" "RSPRY1_000001" "g.57264628dup" "" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}, {OMIM616585:0001}" "" "" "" "Germline" "yes" "rs864309651" "0" "" "" "g.57230716dup" "" "pathogenic" "" "0000097131" "3" "90" "16" "57264628" "57264628" "dup" "0" "01606" "RSPRY1_000001" "g.57264628dup" "" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57230716dup" "" "pathogenic" "" "0000097132" "3" "90" "16" "57264628" "57264628" "dup" "0" "01606" "RSPRY1_000001" "g.57264628dup" "" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57230716dup" "" "pathogenic" "" "0000097133" "3" "90" "16" "57264628" "57264628" "dup" "0" "01606" "RSPRY1_000001" "g.57264628dup" "" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57230716dup" "" "pathogenic" "" "0000097134" "3" "90" "16" "57238691" "57238691" "subst" "0" "01606" "RSPRY1_000002" "g.57238691G>T" "" "{PMID:Faden 2015:26365341}, {DOI:Faden 2015:10.1016/j.ajhg.2015.08.007}, {OMIM616585:0002}" "" "" "" "Germline" "yes" "rs864309652" "0" "" "" "g.57204779G>T" "" "pathogenic" "" "0000558592" "0" "30" "16" "57250016" "57250016" "subst" "0" "01804" "RSPRY1_000003" "g.57250016C>T" "" "" "" "RSPRY1(NM_133368.1):c.703-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57216104C>T" "" "likely benign" "" "0000558593" "0" "30" "16" "57250016" "57250021" "del" "0" "01804" "RSPRY1_000004" "g.57250016_57250021del" "" "" "" "RSPRY1(NM_133368.1):c.703-3_705del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57216104_57216109del" "" "likely benign" "" "0000730058" "3" "90" "16" "57264628" "57264628" "dup" "0" "00000" "RSPRY1_000001" "g.57264628dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_133368.1:c.1279dupA:p.(Thr427Asnfs*10)" "" "Germline" "" "" "0" "" "" "g.57230716dup" "" "pathogenic (recessive)" "" "0000954334" "3" "90" "16" "57230856" "57252612" "del" "0" "00006" "RSPRY1_000006" "g.57230856_57252612del" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PVS1, PM2, PM3; not detected by WES" "Germline" "" "" "0" "" "" "g.57196944_57218700del" "" "pathogenic" "ACMG" "0000981961" "0" "30" "16" "57269148" "57269148" "subst" "0" "01804" "RSPRY1_000007" "g.57269148G>T" "" "" "" "RSPRY1(NM_133368.3):c.1634+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041212" "0" "50" "16" "57238719" "57238719" "subst" "4.06068E-6" "01804" "RSPRY1_000008" "g.57238719G>A" "" "" "" "RSPRY1(NM_133368.3):c.149G>A (p.(Ser50Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041213" "0" "50" "16" "57238814" "57238814" "subst" "4.06171E-6" "01804" "RSPRY1_000009" "g.57238814C>T" "" "" "" "RSPRY1(NM_133368.3):c.244C>T (p.(Arg82Trp))" "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 RSPRY1 ## 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}}" "0000097130" "00018276" "90" "1279" "0" "1279" "0" "c.1279dup" "r.(?)" "p.(Thr427Asnfs*10)" "12" "0000097131" "00018276" "90" "1279" "0" "1279" "0" "c.1279dup" "r.(?)" "p.(Thr427Asnfs*10)" "12" "0000097132" "00018276" "90" "1279" "0" "1279" "0" "c.1279dup" "r.(?)" "p.(Thr427Asnfs*10)" "12" "0000097133" "00018276" "90" "1279" "0" "1279" "0" "c.1279dup" "r.(?)" "p.(Thr427Asnfs*10)" "12" "0000097134" "00018276" "90" "121" "0" "121" "0" "c.121G>T" "r.(?)" "p.(Gly41Cys)" "2" "0000558592" "00018276" "30" "703" "-3" "703" "-3" "c.703-3C>T" "r.spl?" "p.?" "" "0000558593" "00018276" "30" "703" "-3" "705" "0" "c.703-3_705del" "r.spl?" "p.?" "" "0000730058" "00018276" "90" "1279" "0" "1279" "0" "c.1279dup" "r.(?)" "p.(Thr427Asnfs*10)" "" "0000954334" "00018276" "90" "-155" "-7560" "901" "1665" "c.-155-7560_901+1665del" "r.(-155_901del)" "p.0?" "" "0000981961" "00018276" "30" "1634" "8" "1634" "8" "c.1634+8G>T" "r.(=)" "p.(=)" "" "0001041212" "00018276" "50" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Ser50Asn)" "" "0001041213" "00018276" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000065442" "0000097130" "0000065443" "0000097131" "0000065444" "0000097132" "0000065445" "0000097133" "0000065446" "0000097134" "0000332776" "0000730058" "0000446076" "0000954334"