### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPRED2) # 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}}" "SPRED2" "sprouty-related, EVH1 domain containing 2" "2" "p14" "unknown" "NC_000002.11" "UD_132464418593" "" "https://www.LOVD.nl/SPRED2" "" "1" "17722" "200734" "609292" "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/SPRED2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-25 09:31:23" "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}}" "00025640" "SPRED2" "transcript variant 1" "003" "NM_181784.2" "" "NP_861449.2" "" "" "" "-535" "3907" "1257" "65659656" "65537985" "00006" "2021-10-09 19:45:00" "" "" ## 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}}" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "07064" "NS14" "Noonan syndrome, type 14" "AR" "619745" "" "" "" "00006" "2024-01-25 09:32:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPRED2" "00383" "SPRED2" "07064" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00385422" "" "" "" "4" "" "00006" "{PMID:Motta 2021:34626534}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII1" "00385423" "" "" "00385422" "1" "" "00006" "{PMID:Motta 2021:34626534}" "" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1PatI1" "00385424" "" "" "" "1" "" "00006" "{PMID:Motta 2021:34626534}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam2PatII1" "00385425" "" "" "" "1" "" "00006" "{PMID:Motta 2021:34626534}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "Fam3PatII1" "00446896" "" "" "" "1" "" "03580" "{PMID:Onore 2023:38254922}" "" "M" "likely" "Italy" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00385422" "00383" "00385423" "00383" "00385424" "00383" "00385425" "00383" "00446896" "00383" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00383, 07064 ## Count = 5 "{{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}}" "0000279218" "00383" "00385422" "00006" "Familial, autosomal recessive" "14y02m" "height 145 cm (SD-2.41), weight 42 kg (SD-1.02), OFC 57 cm (SD+1.32); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; congenital heart defect, mild aortic insufficiency, mitral valve prolapse; hypertrophic cardiomyopathy, focal interventricular septum hypertrophy; pectus excavatum; hyperlaxity; cubitus valgus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; helix folding anomaly, dysmorphic ear lobe; no café-au-lait spots; no freckling; nevi; no lymphatic involvement; bleeding/easy bruising; lymphopenia; MRI brain mild left cerebral hemisphere enlargement" "" "" "" "" "" "" "" "NS14" "Noonan syndrome-like" "0000279219" "00383" "00385423" "00006" "Familial, autosomal recessive" "39y" "height 144 cm (SD-4.35), weight 56 kg (SD-1.29), OFC 56 cm (SD-1.00); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; no congenital heart defect; hypertrophic cardiomyopathy; pectus excavatum; no hyperlaxity; bitemporal narrowing; no hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; downward slanted palpebral fissures, prominent nasolabial folds, long philtrum; no café-au-lait spots; no freckling; no cryptorchidism; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; tiny hemangiomas" "" "" "" "" "" "" "" "NS14" "Noonan syndrome-like" "0000279220" "00383" "00385424" "00006" "Familial, autosomal recessive" "08y" "height 122.2 cm (SD-1.00), weight 22 kg (SD-1.09), OFC 51 cm (SD+0.86); mild developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia during infancy; congenital heart defect, pulmonary valve stenosis, pulmonary balloon valvuloplasty; small secundum ASD; hypertrophic cardiomyopathy, (asymmetrical hypertrophy interventricular septum; pectus carinatum superiorly and pectus excavatum inferiorly, wide and short shield chest; hyperlaxity; limited extension of elbows, cubitus valgus, winged shoulder blades, kyphosis, mild pes valgus and pes planus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; triangular coarse face, sparse eyebrows, sparse eyelashes, downward slanted palpebral fissures, epicanthus, nasolacrimal duct stenosis, prominent nasolabial sulci, pointed receding chin; no café-au-lait spots; no freckling; sparse and curly hair, sparse and thin eyebrows and eyelashes, scaly and dry skin, eczematous skin, loose and thick skin, deep palmar creases; bilateral cryptorchidism; no lymphatic involvement; partial FXII deficiency (0.248 activity); no hematological abnormalities; atopic skin features, nasolacrimal duct stenosis, exotropia, bone pain and myalgia; trans-fontanelle USG left lateral ventriculomegaly; renal USG bilateral grade 2 medullary nephrocalcinosis" "" "" "" "" "" "" "" "NS14" "Noonan syndrome-like" "0000279221" "00383" "00385425" "00006" "Familial, autosomal recessive" "11y11m" "height 136.5 cm (SD-1.50), weight 27.5 kg (SD-2.30), OFC 55 cm (SD+1.00); no developmental delay; intellectual disability; no language delay; attention deficit; no hypotonia; congenital heart defect, pulmonary valve stenosis; no hypertrophic cardiomyopathy; pectus excavatum; hyperlaxity; kyphosis, clinodactyly, abnormal toe position; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; high cranial vault, triangular and coarse face, downward slanted palpebral fissures, ptosis, prominent philtrum, large mouth, thick lips, micrognathia, high arched/narrow palate; no café-au-lait spots; no freckling; hyperhydrosis, deep palmar creases; no lymphatic involvement; no bleeding/easy bruising; no hematological abnormalities; transient splenomegaly that gradually disappeared between age 2.5 and 8.5 years, sigmoid dolichocolon" "" "" "" "" "" "" "" "NS14" "Noonan syndrome-like" "0000336100" "00383" "00446896" "03580" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Noonan syndrome 14" "Noonan syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000386651" "00385422" "1" "00006" "00006" "2021-10-11 08:59:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386652" "00385423" "1" "00006" "00006" "2021-10-11 08:59:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386653" "00385424" "1" "00006" "00006" "2021-10-11 08:59:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386654" "00385425" "1" "00006" "00006" "2021-10-11 08:59:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448471" "00446896" "1" "03580" "03580" "2024-01-23 19:06:29" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000386651" "SPRED2" "0000386652" "SPRED2" "0000386653" "SPRED2" "0000386654" "SPRED2" ## 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}}" "0000347134" "0" "50" "2" "65540737" "65540737" "dup" "0" "02327" "SPRED2_000001" "g.65540737dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65313603dup" "" "VUS" "" "0000516588" "0" "10" "2" "65540905" "65540905" "subst" "0.356256" "02330" "SPRED2_000004" "g.65540905C>G" "" "" "" "SPRED2(NM_181784.3):c.987G>C (p.A329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65313771C>G" "" "benign" "" "0000718925" "0" "50" "2" "65571897" "65571904" "dup" "0" "02329" "SPRED2_000005" "g.65571897_65571904dup" "" "" "" "SPRED2(NM_181784.3):c.153_160dupCAATGGAC (p.R54Pfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000814304" "3" "90" "2" "65540749" "65540750" "del" "0" "00006" "SPRED2_000006" "g.65540749_65540750del" "" "{PMID:Motta 2021:34626534}" "" "1142_1143delTT" "" "Germline" "yes" "" "0" "" "" "g.65313615_65313616del" "" "pathogenic (recessive)" "" "0000814305" "3" "90" "2" "65540749" "65540750" "del" "0" "00006" "SPRED2_000006" "g.65540749_65540750del" "" "{PMID:Motta 2021:34626534}" "" "1142_1143delTT" "" "Germline" "yes" "" "0" "" "" "g.65313615_65313616del" "" "pathogenic (recessive)" "" "0000814306" "3" "90" "2" "65561813" "65561813" "subst" "0" "00006" "SPRED2_000007" "g.65561813A>G" "" "{PMID:Motta 2021:34626534}" "" "" "" "Germline" "" "" "0" "" "" "g.65334679A>G" "" "pathogenic (recessive)" "" "0000814307" "3" "90" "2" "65571870" "65571870" "subst" "4.06184E-6" "00006" "SPRED2_000008" "g.65571870G>A" "" "{PMID:Motta 2021:34626534}" "" "" "" "Germline" "" "" "0" "" "" "g.65344736G>A" "" "pathogenic (recessive)" "" "0000947956" "0" "30" "2" "65541063" "65541063" "subst" "0.0021209" "01804" "SPRED2_000009" "g.65541063C>G" "" "" "" "SPRED2(NM_001128210.1):c.820G>C (p.(Gly274Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957948" "3" "90" "2" "65561789" "65561789" "del" "0" "03580" "SPRED2_000010" "g.65561789del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.65334655del" "" "likely pathogenic (recessive)" "ACMG" "0000992983" "0" "50" "2" "65541189" "65541189" "subst" "0" "01804" "SPRED2_000011" "g.65541189G>A" "" "" "" "SPRED2(NM_181784.2):c.703C>T (p.(Pro235Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033437" "0" "30" "2" "65561889" "65561889" "subst" "0.000755397" "01804" "SPRED2_000012" "g.65561889C>T" "" "" "" "SPRED2(NM_181784.3):c.223G>A (p.(Val75Ile))" "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 SPRED2 ## 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}}" "0000347134" "00025640" "50" "1157" "0" "1157" "0" "c.1157dup" "r.(?)" "p.(Leu387ProfsTer90)" "" "0000516588" "00025640" "10" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(Ala329=)" "" "0000718925" "00025640" "50" "153" "0" "160" "0" "c.153_160dup" "r.(?)" "p.(Arg54Profs*25)" "" "0000814304" "00025640" "90" "1142" "0" "1143" "0" "c.1142_1143del" "r.(?)" "p.(Leu381HisfsTer95)" "" "0000814305" "00025640" "90" "1142" "0" "1143" "0" "c.1142_1143del" "r.(?)" "p.(Leu381HisfsTer95)" "" "0000814306" "00025640" "90" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "" "0000814307" "00025640" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Ter)" "" "0000947956" "00025640" "30" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Gly277Arg)" "" "0000957948" "00025640" "90" "325" "0" "325" "0" "c.325del" "r.(?)" "p.(Arg109Glufs*7)" "3" "0000992983" "00025640" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "" "0001033437" "00025640" "30" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000386651" "0000814304" "0000386652" "0000814305" "0000386653" "0000814306" "0000386654" "0000814307" "0000448471" "0000957948"