### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MDFIC) # 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}}" "MDFIC" "MyoD family inhibitor domain containing" "7" "q31.1-q31.2" "unknown" "NG_029463.1" "UD_132118915922" "" "https://www.LOVD.nl/MDFIC" "" "1" "28870" "29969" "614511" "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/MDFIC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-21 14:51:47" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011929" "MDFIC" "transcript variant 1" "001" "NM_199072.4" "" "NP_951038.1" "" "" "" "-263" "5049" "1068" "114562209" "114659970" "" "0000-00-00 00:00:00" "" "" "00025701" "MDFIC" "transcript variant 1" "003" "NM_001166345.1" "" "NP_001159817.1" "" "" "" "-590" "4722" "741" "114562209" "114659970" "00006" "2022-03-21 14:42:46" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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 = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00405733" "" "" "" "2" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 2 affected brothers, unaffected non-carrier parents" "M" "no" "China" "<0d" "0" "" "" "" "LE-452Pat1" "00405734" "" "" "00405733" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "brother" "M" "no" "China" "" "0" "" "" "" "LE-452Pat2" "00405735" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "LE-410" "00405736" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 1 affected" "M" "yes" "" "7y" "0" "" "" "Arab" "LE-590" "00405737" "" "" "" "2" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 2 affected brothers, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "Europe" "CHOP-1" "00405738" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" "" "0" "" "" "Arab" "LE-230" "00405739" "" "" "" "1" "" "04271" "{PMID:Leppanen 2020:32908006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "" "" "0" "" "" "Kurdish" "G764" "00405810" "" "" "" "4" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "4-generation family, 4 affected (4M), monozygotis twins, unaffected heterozygous carrier parents/relatives" "M" "no" "" "" "0" "" "" "" "Pat1a" "00405811" "" "" "00405810" "1" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "monozygotic twin Pat1a" "M" "no" "" "" "0" "" "" "" "Pat1b" "00405814" "" "" "" "1" "" "00006" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00405733" "00198" "00405734" "00198" "00405735" "00198" "00405736" "00198" "00405737" "00198" "00405738" "00198" "00405739" "00198" "00405810" "05611" "00405811" "05611" "00405814" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 10 "{{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}}" "0000298230" "00198" "00405733" "04271" "Isolated (sporadic)" "<0d" "died at birth (26w); fetal 19w hydrops; no polyhydramnios; chylothorax; bilateral pleural effusions; pericardial effusions; ascites; subcutaneous lymphedema; no hydrocele; pulmonary hypoplasia; pectus excavatum; no cardiac anomalies; no ptosis; no hyperkeratosis; no inguinal hernia" "<0d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298231" "00198" "00405734" "04271" "Familial, autosomal dominant" "6y" "fetal from 20w hydrops; no polyhydramnios; chylothorax; bilateral pleural effusions; no pericardial effusions; ascites; subcutaneous lymphedema; no hydrocele; respiratory support required after birth; pectus excavatum developed during infancy; no cardiac anomalies; no ptosis; not known; no hyperkeratosis; bilateral inguinal hernia; no infections" "<0d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298232" "00198" "00405735" "04271" "Familial, autosomal dominant" "20y" "no hydrops; unilateral, recurrent pleural effusions; lymphedema both legs, around eyes; respiratory problems, left lower lobe collapse; mitral valve prolapse, tachycardia; bilateral pleural thickening; hyperkeratosis; papillomatosis on toes" "1d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298233" "00198" "00405736" "04271" "Familial, autosomal dominant" "7y" "died at 7y; fetal 22w hydrops; polyhydramnios; chylothorax; bilateral, recurrent pleural effusions; pericardial effusions; moderate ascites; lymphedema both legs, subcutaneous; bilateral hydrocele; respiratory support required after birth; 1y-cardiac arrest; ; inguinal hernia; recurrent unexplained fever, frequent upper and lower respiratory tract infections, died from septic shock (S.pyogenes sepsis)" "<0d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298234" "00198" "00405737" "04271" "Familial, autosomal dominant" "4m" "fetal 20w hydrops; polyhydramnios; chylothorax; bilateral pleural effusions; no pericardial effusions; ascites; subcutaneous lymphedema; hydrocele; respiratory support required after birth; pectus excavatum; tiny patent foramen ovale; no ptosis; no pleural thickening; no hyperkeratosis; no inguinal hernia" "<0d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298235" "00198" "00405738" "04271" "Familial, autosomal recessive" "10y" "brith hydrops; chylothorax; bilateral pleural effusions; generalized lymphedema; hydrocele; ptosis" "1d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298236" "00198" "00405739" "04271" "Familial, autosomal recessive" "11y" "no hydrops; no polyhydramnios; chylothorax; uni/bilateral, recurrent pleural effusions; no pericardial effusions; minimal ascites; lymphedema both legs, eyelids; respiratory support required after birth; pectus excavatum; muscular ventricular septal defect; no hyperkeratosis; no inguinal hernia; no infections" "<0d" "" "" "" "" "" "" "" "" "central conducting lymphatic anomaly with lymphedema" "" "0000298307" "05611" "00405810" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; hypothyroidism, Addison’s disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000298308" "05611" "00405811" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; impulsive, obsessive behavior; hypothyroidism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000298311" "05611" "00405814" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., developmental delay; severe intellectual disability; severe delayed speech; severe seizures; MRI brain hypothalamic hamartoma" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000406973" "00405733" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406974" "00405734" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406975" "00405735" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406976" "00405736" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406977" "00405737" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406978" "00405738" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406979" "00405739" "1" "04271" "00006" "2022-03-21 14:56:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407051" "00405810" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407052" "00405811" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407055" "00405814" "1" "00006" "00006" "2022-03-22 19:13:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 16 "{{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}}" "0000655711" "0" "30" "7" "114563144" "114563144" "subst" "0" "01943" "MDFIC_000001" "g.114563144C>A" "" "" "" "MDFIC(NM_001166345.1):c.56C>A (p.A19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114923089C>A" "" "likely benign" "" "0000843403" "11" "90" "7" "114619734" "114619734" "dup" "0" "04271" "MDFIC_000004" "g.114619734dup" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.114979679dup" "" "pathogenic (recessive)" "" "0000843404" "11" "90" "7" "114619734" "114619734" "dup" "0" "04271" "MDFIC_000004" "g.114619734dup" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.114979679dup" "" "pathogenic (recessive)" "" "0000843405" "3" "90" "7" "114619734" "114619734" "dup" "0" "04271" "MDFIC_000004" "g.114619734dup" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.114979679dup" "" "pathogenic (recessive)" "" "0000843406" "3" "90" "7" "114619734" "114619734" "dup" "0" "04271" "MDFIC_000004" "g.114619734dup" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.114979679dup" "" "pathogenic (recessive)" "" "0000843407" "3" "90" "7" "114619734" "114619734" "dup" "0" "04271" "MDFIC_000004" "g.114619734dup" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.114979679dup" "" "pathogenic (recessive)" "" "0000843408" "3" "90" "7" "114619714" "114619714" "del" "0" "04271" "MDFIC_000003" "g.114619714del" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.114979659del" "" "pathogenic (recessive)" "" "0000843409" "3" "90" "7" "114582422" "114582422" "subst" "0" "04271" "MDFIC_000002" "g.114582422G>T" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.114942367G>T" "" "pathogenic (recessive)" "" "0000843410" "21" "90" "7" "114655980" "114655980" "subst" "8.99626E-5" "04271" "MDFIC_000005" "g.114655980T>G" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.115015926T>G" "" "pathogenic (recessive)" "" "0000843411" "21" "90" "7" "114655980" "114655980" "subst" "8.99626E-5" "04271" "MDFIC_000005" "g.114655980T>G" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.115015926T>G" "" "pathogenic (recessive)" "" "0000843522" "21" "90" "21" "32559395" "32559395" "subst" "4.06167E-6" "00006" "MDFIC_000002" "g.32559395G>A" "" "{PMID:Lu 2022:35240055}, {DOI:Lu 2022:10.1016/j.ajhg.2022.01.020}" "" "" "" "Germline" "" "" "0" "" "" "g.31187079G>A" "" "pathogenic (recessive)" "" "0000843523" "21" "90" "21" "32559395" "32559395" "subst" "4.06167E-6" "00006" "MDFIC_000002" "g.32559395G>A" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.31187079G>A" "" "pathogenic (recessive)" "" "0000843524" "21" "90" "21" "32502560" "32502560" "subst" "4.0627E-6" "00006" "MDFIC_000001" "g.32502560G>A" "" "{PMID:Leppanen 2020:32908006}" "" "" "" "Germline" "" "" "0" "" "" "g.31130242G>A" "" "pathogenic (recessive)" "" "0000924615" "0" "10" "7" "114563201" "114563201" "subst" "0.00672911" "02330" "MDFIC_000006" "g.114563201G>T" "" "" "" "MDFIC(NM_001166345.3):c.94+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924616" "0" "10" "7" "114619598" "114619598" "subst" "0.996673" "02330" "MDFIC_000007" "g.114619598C>A" "" "" "" "MDFIC(NM_001166345.3):c.255C>A (p.A85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025299" "0" "70" "7" "114582422" "114582422" "subst" "0" "02329" "MDFIC_000002" "g.114582422G>T" "" "" "" "MDFIC(NM_001166345.3):c.187G>T (p.G63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 MDFIC ## Count = 20 "{{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}}" "0000655711" "00025701" "30" "56" "0" "56" "0" "c.56C>A" "r.(?)" "p.(Ala19Asp)" "" "0000655711" "00011929" "30" "383" "0" "383" "0" "c.383C>A" "r.(?)" "p.(Ala128Asp)" "" "0000843403" "00025701" "90" "391" "0" "391" "0" "c.391dup" "r.(?)" "p.(Met131AsnfsTer3)" "" "0000843404" "00025701" "90" "391" "0" "391" "0" "c.391dup" "r.(?)" "p.(Met131AsnfsTer3)" "" "0000843405" "00025701" "90" "391" "0" "391" "0" "c.391dup" "r.(?)" "p.(Met131AsnfsTer3)" "" "0000843406" "00025701" "90" "391" "0" "391" "0" "c.391dup" "r.(?)" "p.(Met131AsnfsTer3)" "" "0000843407" "00025701" "90" "391" "0" "391" "0" "c.391dup" "r.(?)" "p.(Met131AsnfsTer3)" "" "0000843408" "00025701" "90" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Ser124Ter)" "" "0000843409" "00025701" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Gly63Ter)" "" "0000843410" "00025701" "90" "732" "0" "732" "0" "c.732T>G" "r.(?)" "p.(Phe244Leu)" "" "0000843411" "00025701" "90" "732" "0" "732" "0" "c.732T>G" "r.(?)" "p.(Phe244Leu)" "" "0000843522" "00025701" "90" "2584" "0" "2584" "0" "c.2584C>T" "r.(?)" "p.(Leu862Phe)" "" "0000843523" "00025701" "90" "2584" "0" "2584" "0" "c.2584C>T" "r.(?)" "p.(Leu862Phe)" "" "0000843524" "00025701" "90" "4016" "0" "4016" "0" "c.4016C>T" "r.(?)" "p.(Ala1339Val)" "" "0000924615" "00025701" "10" "94" "19" "94" "19" "c.94+19G>T" "r.(=)" "p.(=)" "" "0000924615" "00011929" "10" "421" "19" "421" "19" "c.421+19G>T" "r.(=)" "p.(=)" "" "0000924616" "00025701" "10" "255" "0" "255" "0" "c.255C>A" "r.(?)" "p.(Ala85=)" "" "0000924616" "00011929" "10" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Ala194=)" "" "0001025299" "00025701" "70" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Gly63*)" "" "0001025299" "00011929" "70" "514" "0" "514" "0" "c.514G>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000406973" "0000843403" "0000406973" "0000843410" "0000406974" "0000843404" "0000406974" "0000843411" "0000406975" "0000843405" "0000406976" "0000843406" "0000406977" "0000843407" "0000406978" "0000843408" "0000406979" "0000843409" "0000407051" "0000843522" "0000407052" "0000843523" "0000407055" "0000843524"