### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAPRE2) # 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}}" "MAPRE2" "microtubule-associated protein, RP/EB family, member 2" "18" "q12.1" "unknown" "NC_000018.9" "UD_136079594906" "" "https://www.LOVD.nl/MAPRE2" "" "1" "6891" "10982" "605789" "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/MAPRE2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-24 20:19:59" "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}}" "00011801" "MAPRE2" "transcript variant 1" "003" "NM_014268.3" "" "NP_055083.1" "" "" "" "-180" "4085" "984" "32621324" "32723434" "" "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}}" "05171" "CSCSC1" "skin crease, circumferential, symmetric, congenital, type 1 (CSCSC-1, Kunze type)" "AD" "156610" "" "" "" "00006" "2016-05-27 22:39:01" "00006" "2021-12-10 21:51:32" "06396" "CSCSC2" "Symmetric circumferential skin creases, congenital, 2" "AD" "616734" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAPRE2" "06396" ## 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}}" "00072150" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, affected, unaffected heterozygous carrier parents; father might have had minor folds as a baby" "" "yes" "Spain" ">00y15m" "0" "" "" "" "26637975-PatM2" "00072151" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, parents not available" "" "yes" "Tunisia" ">19y" "0" "" "" "" "26637975-PatM8" "00072152" "" "" "" "1" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Belgium" ">08y09m" "0" "" "" "" "26637975-PatM9" "00072153" "" "" "" "2" "" "01604" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "2-generation family, 1 affected, affected heterozygous carrier mother (mild cognitive impairment, similar facial phenotype)" "" "no" "Belgium" ">06y" "0" "" "" "" "26637975-PatM1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00072150" "05171" "00072151" "05171" "00072152" "05171" "00072153" "05171" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05171, 06396 ## Count = 4 "{{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}}" "0000051856" "05171" "00072150" "01604" "Familial, autosomal recessive" "00y15m" "no decreased head circumference present at birth (-HP:0011451), no reduced head circumference – current (-HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), creases neck (HP:?), flat face (HP:0012368), microphthalmia (HP:0000568), short palpebral fissures (HP:0012745), epicanthal folds (HP:0000286), low broad nasal bridge (-HP:0000431), lowset (HP:0000369), small dysplastic ears (HP:0000377), hypoplastic scrotum (HP:0000046), coronal hypospadias (HP:0008743), intellectual disability, moderate (HP:0002342) to intellectual disability, severe (HP:0010864), mildly dilated lateral ventricles (HP:0006956), corpus callosum hypoplasia (HP:0002079), seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "0000051857" "05171" "00072151" "01604" "Familial, autosomal recessive" "19y" "decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), creases limbs (HP:?), elongated face (HP:0000300), hypertelorism (HP:0000316), bilateral epicanthic folds (HP:0000286), upslanting palpebral fissures (HP:0000582), microphthalmia (HP:0000568), strabismus (HP:0000486), wide nasal bridge (HP:0000431), aberrant teeth (HP:0006482), low-set posteriorly rotated ears (HP:0000368) with overfolded thick helices (HP:0000391), short neck (HP:0000470), widely spaced nipples (HP:0006610), hypospadias (HP:0000047), undescended testes (HP:0000028), second and third toe syndactyly (HP:0004691), intellectual disability, moderate (HP:0002342), unable to walk (HP:0002540), unable to speak (HP:0002371), hypoplastic vermis (HP:0001320), hypoplastic corpus callosum (HP:0002079), mild dilatation of ventricles (HP:0006956), deafness (HP:0000365), seizures (HP:0001250) and ureterocele with vesical reflux (HP:0008714 ) without impairment of the renal function (-HP:0012622)" "" "" "" "" "" "" "" "" "" "0000051858" "05171" "00072152" "01604" "Isolated (sporadic)" "08y09m" "decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), creases limbs; disappeared around age 4 years (HP:?), no cleft palate (-HP:0000175), flat face (HP:0012368), low set anterior hairline (HP:0000294), microphthalmia (HP:0000568), bilateral epicanthic folds (HP:0000286), small downslanting palpebral fissures (HP:0000494), ptosis (HP:0000508), synophris (HP:0000664), broad nasal bridge (HP:0000431), dysplastic small (HP:0000377), low-set and posteriorly rotated ears (HP:0000368) with overfolded helices (HP:0000396), upturned ear lobes (HP:0009909); microstomia (HP:0000160)with thin upper lip (HP:0000219), small chin (HP:0000331), short hands (HP:0004279), tapering fingers (HP:0001182), intellectual disability, mild (HP:0001256) to normal" "" "" "" "" "" "" "" "" "" "0000051859" "05171" "00072153" "01604" "Familial, autosomal recessive" "06y" "decreased head circumference present at birth (HP:0011451), reduced head circumference – current (HP:0000252), cleft palate (HP:0000175), limbs; spontaneous improvement (HP:?), microphthalmia (HP:0000568) with small upslanting palpebral fissures (HP:0000582), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), flat midface (HP:0040199), small mouth (HP:0000160), small chin (HP:0000331), clinodactyly of fifth fingers (HP:0004209), intellectual disability, mild (HP:0001256) to intellectual disability, moderate (HP:0002342)" "" "" "" "" "" "" "" "" "" ## 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}}" "0000072304" "00072150" "1" "01604" "01604" "2016-05-30 11:04:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072305" "00072151" "1" "01604" "01604" "2016-05-30 11:10:11" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072306" "00072152" "1" "01604" "01604" "2016-05-30 11:12:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072307" "00072153" "1" "01604" "01604" "2016-05-30 11:16:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000072304" "MAPRE2" "0000072305" "MAPRE2" "0000072306" "MAPRE2" "0000072307" "MAPRE2" ## 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 = 14 "{{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}}" "0000115845" "3" "90" "18" "32650239" "32650239" "subst" "0" "01604" "MAPRE2_000001" "g.32650239A>G" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35070275A>G" "" "pathogenic" "" "0000115846" "3" "90" "18" "32677419" "32677419" "subst" "0" "01604" "MAPRE2_000002" "g.32677419A>G" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35097455A>G" "" "pathogenic" "" "0000115847" "0" "90" "18" "32681940" "32681940" "subst" "0" "01604" "MAPRE2_000003" "g.32681940C>T" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "" "" "" "De novo" "-" "" "0" "" "" "g.35101976C>T" "" "pathogenic" "" "0000115848" "21" "90" "18" "32681967" "32681967" "subst" "0" "01604" "MAPRE2_000004" "g.32681967C>T" "" "{PMID:Isrie 2015:26637975}, {DOI:Isrie 2015:10.1016/j.ajhg.2015.10.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35102003C>T" "" "pathogenic" "" "0000617128" "0" "30" "18" "32707060" "32707062" "dup" "0" "01804" "MAPRE2_000007" "g.32707060_32707062dup" "" "" "" "MAPRE2(NM_001143826.2):c.621+6_621+7insCAT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35127096_35127098dup" "" "likely benign" "" "0000617129" "0" "30" "18" "32712026" "32712026" "subst" "0.000231634" "01943" "MAPRE2_000008" "g.32712026G>A" "" "" "" "MAPRE2(NM_001143827.2):c.745G>A (p.V249M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35132062G>A" "" "likely benign" "" "0000658361" "0" "50" "18" "32712071" "32712071" "subst" "0" "02325" "MAPRE2_000009" "g.32712071G>A" "" "" "" "MAPRE2(NM_001143827.3):c.790G>A (p.E264K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35132107G>A" "" "VUS" "" "0000726875" "0" "50" "18" "32681967" "32681967" "subst" "0" "02329" "MAPRE2_000005" "g.32681967C>G" "" "" "" "MAPRE2(NM_001143827.3):c.418C>G (p.Q140E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865676" "0" "10" "18" "32711973" "32711973" "dup" "0" "02325" "MAPRE2_000010" "g.32711973dup" "" "" "" "MAPRE2(NM_014268.4):c.751-23dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894510" "0" "50" "18" "32650200" "32650200" "subst" "0" "02325" "MAPRE2_000011" "g.32650200A>G" "" "" "" "MAPRE2(NM_014268.4):c.164A>G (p.Q55R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983024" "0" "50" "18" "32558483" "32558486" "del" "0" "01804" "MAPRE2_000012" "g.32558483_32558486del" "" "" "" "MAPRE2(NM_001143827.3):c.2_5del (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004072" "0" "50" "18" "32585466" "32585466" "subst" "2.06996E-5" "01804" "MAPRE2_000013" "g.32585466C>T" "" "" "" "MAPRE2(NM_001143827.2):c.35C>T (p.(Ser12Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004073" "0" "30" "18" "32621605" "32621605" "subst" "1.62914E-5" "01804" "MAPRE2_000014" "g.32621605G>A" "" "" "" "MAPRE2(NM_001256420.1):c.71G>A (p.(Cys24Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004074" "0" "50" "18" "32720261" "32720261" "subst" "8.23364E-6" "01804" "MAPRE2_000015" "g.32720261G>A" "" "" "" "MAPRE2(NM_014268.3):c.912G>A (p.(Glu304Glu))" "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 MAPRE2 ## Count = 14 "{{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}}" "0000115845" "00011801" "90" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Asn68Ser)" "2" "0000115846" "00011801" "90" "260" "0" "260" "0" "c.260A>G" "r.(?)" "p.(Tyr87Cys)" "3" "0000115847" "00011801" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Cys)" "4" "0000115848" "00011801" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Gln152*)" "4" "0000617128" "00011801" "30" "750" "9" "750" "11" "c.750+9_750+11dup" "r.(=)" "p.(=)" "" "0000617129" "00011801" "30" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000658361" "00011801" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Glu276Lys)" "" "0000726875" "00011801" "50" "454" "0" "454" "0" "c.454C>G" "r.(?)" "p.(Gln152Glu)" "" "0000865676" "00011801" "10" "751" "-23" "751" "-23" "c.751-23dup" "r.(=)" "p.(=)" "" "0000894510" "00011801" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Gln55Arg)" "" "0000983024" "00011801" "50" "-63021" "0" "-63018" "0" "c.-63021_-63018del" "r.(?)" "p.(=)" "" "0001004072" "00011801" "50" "-36038" "0" "-36038" "0" "c.-36038C>T" "r.(?)" "p.(=)" "" "0001004073" "00011801" "30" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Val34=)" "" "0001004074" "00011801" "50" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000072304" "0000115845" "0000072305" "0000115846" "0000072306" "0000115847" "0000072307" "0000115848"