### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FRRS1L) # 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}}" "FRRS1L" "ferric-chelate reductase 1-like" "9" "q31.1-q31.2" "unknown" "NG_051235.1" "UD_136087100486" "" "https://www.LOVD.nl/FRRS1L" "" "1" "1362" "23732" "604574" "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/FRRS1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-24 21:58:34" "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}}" "00008156" "FRRS1L" "ferric-chelate reductase 1-like" "001" "NM_014334.2" "" "NP_055149.2" "" "" "" "1" "1189" "1035" "111929571" "111899581" "" "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}}" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "05293" "EIEE37" "encephalopathy, epileptic, early infantile, type 37 (EIEE-37)" "AR" "616981" "" "" "" "00006" "2017-06-24 22:05:29" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FRRS1L" "05293" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00072245" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Family, 5-affected siblings, PatII1" "F" "yes" "" "" "0" "" "" "Saudi Arabia" "272369171-Fam1PatII1" "00072246" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Family, 5-affected siblings, PatII2" "F" "yes" "" "16y" "0" "" "" "Saudi Arabia" "" "00072247" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Family, 5-affected siblings, PatII3" "M" "yes" "" "" "0" "" "" "Saudi Arabia" "272369171-Fam1PatII3" "00072248" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Family, 5-affected siblings, PatII4" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "272369171-Fam1PatII4" "00072249" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Family, 5-affected siblings, PatII5" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00072250" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Only child with healthy parents" "F" "no" "" "" "0" "" "" "European, mixed" "272369172-Fam2PatII1" "00072251" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Only child with healthy parents" "F" "no" "" "" "0" "" "" "Puerto Rican" "272369173-Fam3PatII1" "00072252" "" "" "" "1" "" "01604" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "Unaffected sister, complicated pregnancy by gestational diabetes, was born at term by caesarean section" "F" "yes" "Morocco" "" "0" "" "" "Morrocan" "272369174Fam4PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00072245" "00841" "00072246" "00841" "00072247" "00841" "00072248" "00841" "00072249" "00841" "00072250" "00841" "00072251" "00841" "00072252" "00841" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00841, 05293 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000083721" "00841" "00072245" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), generalized tonicclonic\r\nseizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?)" "01y06m" "" "" "" "" "" "" "" "" "" "0000083722" "00841" "00072250" "01604" "Familial, autosomal recessive" "" "no regression (-HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), ballism (HP:0100248), multifocal (HP:0030651), intractable (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?)" "00y04m" "" "" "" "" "" "" "" "" "" "0000083723" "00841" "00072251" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), cogwheel rigidity (HP:0002396), juvenile spasms evolved to LennoxGastaut syndrome (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?), horizontal nystagmus (HP:0000666), vertical nystagmus (HP:0010544)" "02y" "" "" "" "" "" "" "" "" "" "0000083724" "00841" "00072252" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), myoclonus (HP:0001336), multifocal (HP:0030651), clonic (HP:?), hypotonia (HP:0001252), impaired volitional movement (HP:?)" "00y06m" "" "" "" "" "" "" "" "" "" "0000083725" "00841" "00072246" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), generalized tonicclonic\r\nseizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?)" "01y10m" "" "" "" "" "" "" "" "" "" "0000083726" "00841" "00072247" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), spasticity (HP:0001257), impaired volitional movement (HP:?)" "01y10m" "" "" "" "" "" "" "" "" "" "0000083727" "00841" "00072248" "01604" "Familial, autosomal recessive" "" "regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), generalized seizures (HP:0002197), spasticity (HP:0001257), impaired volitional movement (HP:?)" "01y10m" "" "" "" "" "" "" "" "" "" "0000083728" "00841" "00072249" "01604" "Familial, autosomal recessive" "" "no regression (-HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), hemiclonic seizures (HP:0006813), no neuromotor impairment (-HP:?)" "02y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072400" "00072245" "1" "01604" "01604" "2016-06-02 10:29:03" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072401" "00072246" "1" "01604" "01604" "2016-06-02 10:37:42" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072402" "00072247" "1" "01604" "01604" "2016-06-02 10:41:19" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072403" "00072248" "1" "01604" "01604" "2016-06-02 10:43:55" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072404" "00072249" "1" "01604" "01604" "2016-06-02 10:48:38" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072405" "00072250" "1" "01604" "01604" "2016-06-02 10:56:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072406" "00072251" "1" "01604" "01604" "2016-06-02 11:04:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000072407" "00072252" "1" "01604" "01604" "2016-06-02 11:12:56" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000072400" "FRRS1L" "0000072401" "FRRS1L" "0000072402" "FRRS1L" "0000072403" "FRRS1L" "0000072404" "FRRS1L" "0000072405" "FRRS1L" "0000072406" "FRRS1L" "0000072407" "FRRS1L" ## 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 = 15 "{{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}}" "0000115960" "3" "90" "9" "111899809" "111899809" "subst" "0" "01604" "FRRS1L_000001" "g.111899809G>A" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109137529G>A" "" "pathogenic" "" "0000115961" "3" "90" "9" "111899809" "111899809" "subst" "0" "01604" "FRRS1L_000001" "g.111899809G>A" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109137529G>A" "" "pathogenic" "" "0000115962" "3" "90" "9" "111899809" "111899809" "subst" "0" "01604" "FRRS1L_000001" "g.111899809G>A" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109137529G>A" "" "pathogenic" "" "0000115963" "3" "90" "9" "111899809" "111899809" "subst" "0" "01604" "FRRS1L_000001" "g.111899809G>A" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109137529G>A" "" "pathogenic" "" "0000115964" "3" "90" "9" "111899809" "111899809" "subst" "0" "01604" "FRRS1L_000001" "g.111899809G>A" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109137529G>A" "" "pathogenic" "" "0000115965" "3" "90" "9" "111903640" "111903640" "subst" "4.062E-6" "01604" "FRRS1L_000002" "g.111903640C>T" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109141360C>T" "" "pathogenic" "" "0000115966" "3" "70" "9" "111903748" "111903750" "del" "0" "01604" "FRRS1L_000003" "g.111903748_111903750del" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109141468_109141470del" "" "likely pathogenic" "" "0000115967" "3" "90" "9" "111911959" "111911959" "dup" "0" "01604" "FRRS1L_000004" "g.111911959dup" "" "{PMID:Madeo 2016:27236917}, {DOI:Madeo 2016:10.1016/j.ajhg.2016.04.008}" "" "" "" "Germline" "" "" "0" "" "" "g.109149679dup" "" "pathogenic" "" "0000536011" "0" "30" "9" "111911927" "111911927" "subst" "0.000548607" "02326" "FRRS1L_000006" "g.111911927C>T" "" "" "" "FRRS1L(NM_014334.3):c.465G>A (p.K155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109149647C>T" "" "likely benign" "" "0000536012" "0" "70" "9" "111911959" "111911959" "dup" "0" "02329" "FRRS1L_000004" "g.111911959dup" "" "" "" "FRRS1L(NM_014334.4):c.283dupA (p.I95Nfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109149679dup" "" "likely pathogenic" "" "0000690369" "0" "30" "9" "111929481" "111929481" "subst" "0" "01943" "EPB41L4B_000002" "g.111929481C>T" "" "" "" "FRRS1L(NM_014334.3):c.91G>A (p.A31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722207" "0" "50" "9" "111899757" "111899757" "subst" "1.22129E-5" "02325" "FRRS1L_000008" "g.111899757T>C" "" "" "" "FRRS1L(NM_014334.4):c.860A>G (p.Y287C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722208" "0" "50" "9" "111929287" "111929287" "subst" "0" "02326" "EPB41L4B_000003" "g.111929287T>G" "" "" "" "FRRS1L(NM_014334.3):c.285A>C (p.G95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852067" "0" "30" "9" "111899862" "111899862" "subst" "1.22149E-5" "01943" "FRRS1L_000009" "g.111899862C>T" "" "" "" "FRRS1L(NM_014334.3):c.908G>A (p.R303H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037134" "0" "50" "9" "111899877" "111899877" "subst" "5.71578E-5" "01804" "FRRS1L_000010" "g.111899877G>A" "" "" "" "FRRS1L(NM_014334.4):c.740C>T (p.(Pro247Leu))" "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 FRRS1L ## Count = 15 "{{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}}" "0000115960" "00008156" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "5" "0000115961" "00008156" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "5" "0000115962" "00008156" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "5" "0000115963" "00008156" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "5" "0000115964" "00008156" "90" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Gln321*)" "5" "0000115965" "00008156" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Trp282*)" "4" "0000115966" "00008156" "70" "737" "0" "739" "0" "c.737_739del" "r.(?)" "p.(Gly246del)" "4" "0000115967" "00008156" "90" "436" "0" "436" "0" "c.436dup" "r.(?)" "p.(Ile146Asnfs*10)" "2" "0000536011" "00008156" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(Lys155=)" "" "0000536012" "00008156" "70" "436" "0" "436" "0" "c.436dup" "r.(?)" "p.(Ile146AsnfsTer10)" "" "0000690369" "00008156" "30" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0000722207" "00008156" "50" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Tyr338Cys)" "" "0000722208" "00008156" "50" "285" "0" "285" "0" "c.285A>C" "r.(?)" "p.(Gly95=)" "" "0000852067" "00008156" "30" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303His)" "" "0001037134" "00008156" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Pro298Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000072400" "0000115960" "0000072401" "0000115961" "0000072402" "0000115962" "0000072403" "0000115963" "0000072404" "0000115964" "0000072405" "0000115965" "0000072406" "0000115966" "0000072407" "0000115967"