### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FITM2) # 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}}" "FITM2" "fat storage-inducing transmembrane protein 2" "20" "q13.12" "unknown" "NC_000020.10" "UD_132464427564" "" "http://www.LOVD.nl/FITM2" "" "1" "16135" "128486" "612029" "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/FITM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-22 18:29:29" "00006" "2025-12-19 18:53:31" ## 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}}" "00007970" "FITM2" "fat storage-inducing transmembrane protein 2" "001" "NM_001080472.1" "" "NP_001073941.1" "" "" "" "-101" "857" "789" "42939889" "42935197" "" "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}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04341" "SIDDIS" "Siddiqi syndrome" "AR" "618635" "" "" "" "00006" "2015-09-22 18:24:49" "00006" "2021-12-10 22:44:54" "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}}" "FITM2" "04341" ## 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}}" "00050107" "" "" "" "1" "" "00784" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00320136" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00444526" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "M" "" "France" "" "0" "" "" "" "Pat28" "00471330" "" "" "" "1" "" "00006" "{PMID:Riedhammer 2018:30288795}, {PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-118" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00050107" "04341" "00320136" "00198" "00444526" "05611" "00471330" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 04341, 05611 ## Count = 4 "{{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}}" "0000036719" "04341" "00050107" "00569" "Unknown" "" "New disorder: Siddiqi syndrome, a deafness-dystonia syndrome with ichthyosis and signs of sensory neuropapthy" "" "" "" "" "" "" "" "" "" "" "" "0000242182" "00198" "00320136" "01807" "Unknown" "" "Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Strabismus (HP:0000486); Amblyopia (HP:0000646); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Short stature (HP:0004322); Dyskinesia (HP:0100660)" "" "" "" "" "" "" "" "" "" "" "" "0000333779" "05611" "00444526" "00006" "Familial, autosomal recessive" "10y-20y" "Specific learning disability, Spasticity, Postural instability, Loss of speech, Loss of ability to walk, Global developmental delay, Dysphagia, Delayed gross motor development, Delayed ability to walk, Congenital sensorineural hearing impairment, Cerebellar ataxia associated with quadrupedal gait, Autistic behavior, Ataxia, Abnormal pyramidal sign" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" "0000356167" "00108" "00471330" "00006" "Familial, autosomal recessive" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "SIDDIS" "dystonia" "" ## 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}}" "0000050052" "00050107" "1" "00784" "00569" "2015-09-22 14:30:24" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000321321" "00320136" "1" "01807" "01807" "2020-11-23 17:34:11" "" "" "SEQ" "DNA" "" "" "0000446094" "00444526" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS" "0000473000" "00471330" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000050052" "FITM2" ## 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 = 8 "{{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}}" "0000079006" "3" "70" "20" "42939785" "42939785" "subst" "0" "00784" "FITM2_000001" "g.42939785C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44311145C>A" "" "likely pathogenic" "" "0000681617" "0" "50" "20" "42935292" "42935292" "del" "0" "01943" "FITM2_000002" "g.42935292del" "" "" "" "FITM2(NM_001080472.4):c.764delT (p.L255*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681618" "0" "30" "20" "42935352" "42935352" "subst" "6.09211E-5" "01943" "FITM2_000003" "g.42935352G>A" "" "" "" "FITM2(NM_001080472.4):c.702C>T (p.Y234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704150" "3" "70" "20" "42939788" "42939788" "subst" "0" "01807" "FITM2_000004" "g.42939788T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000855847" "0" "50" "20" "42935701" "42935701" "subst" "0.000313253" "01943" "FITM2_000005" "g.42935701G>A" "" "" "" "FITM2(NM_001080472.4):c.353C>T (p.T118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954344" "1" "70" "20" "42935539" "42935539" "subst" "0" "00006" "FITM2_000006" "g.42935539A>C" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PM1, PM2, PP3, PP4; gene now linked to intellectual disability" "Germline" "" "" "0" "" "" "g.44306899A>C" "" "likely pathogenic" "ACMG" "0000954351" "2" "70" "20" "42935585" "42935585" "subst" "0" "00006" "FITM2_000007" "g.42935585A>C" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.44306945A>C" "" "likely pathogenic" "ACMG" "0001061744" "3" "50" "20" "42935360" "42935360" "subst" "8.12163E-6" "00006" "FITM2_000008" "g.42935360C>T" "" "{PMID:Riedhammer 2018:30288795}, {PMID:Zech 2020:33098801}" "" "" "ACMG PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.44306720C>T" "" "VUS" "ACMG" ## 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 FITM2 ## Count = 8 "{{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}}" "0000079006" "00007970" "70" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Glu2*)" "1" "0000681617" "00007970" "50" "764" "0" "764" "0" "c.764del" "r.(?)" "p.(Leu255Ter)" "" "0000681618" "00007970" "30" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Tyr234=)" "" "0000704150" "00007970" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000855847" "00007970" "50" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Met)" "" "0000954344" "00007970" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Val172Gly)" "" "0000954351" "00007970" "70" "469" "0" "469" "0" "c.469T>G" "r.(?)" "p.(Phe157Val)" "" "0001061744" "00007970" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Gly232Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050052" "0000079006" "0000321321" "0000704150" "0000446094" "0000954344" "0000446094" "0000954351" "0000473000" "0001061744"