### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATOH1) # 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}}" "ATOH1" "atonal homolog 1 (Drosophila)" "4" "q22" "unknown" "NC_000004.11" "UD_136085689057" "" "https://www.LOVD.nl/ATOH1" "" "1" "797" "474" "601461" "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/ATOH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-12 09:31:38" "00006" "2026-02-12 09:41:28" ## 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}}" "00003054" "ATOH1" "atonal homolog 1 (Drosophila)" "001" "NM_005172.1" "" "NP_005163.1" "" "" "" "1" "1065" "1065" "94750078" "94751142" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATOH1" "05086" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00361532" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG1898" "00472421" "" "" "" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat1" "00472422" "" "" "" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "3-generation family, 1 affected, father/paternal grandmother hearing loss" "M" "" "France" "" "0" "" "" "" "Pat2" "00472423" "" "" "" "3" "" "00006" "{PMID:Bertola 2026:41592563}" "3-generation family, 3 affected" "M" "" "France" "" "0" "" "" "" "FamPat3" "00472424" "" "" "00472423" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "grandmother" "F" "" "France" "" "0" "" "" "" "FamPat4" "00472425" "" "" "00472423" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "daugther" "F" "" "France" "" "0" "" "" "" "FamPat5" "00472426" "" "" "" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00472427" "" "" "" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00472428" "" "" "" "1" "" "00006" "{PMID:Bertola 2026:41592563}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00361532" "00139" "00472421" "05086" "00472422" "05086" "00472423" "05086" "00472424" "05086" "00472425" "05086" "00472426" "05086" "00472427" "05086" "00472428" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05086 ## Count = 9 "{{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}}" "0000256937" "00139" "00361532" "00006" "Familial, autosomal recessive" "1y2m" "not syndromic; global developmental delay, hypotonia, nystagmus, poor visual tracking, dysmorphism, pontocerebellar hypoplasia and brain atrophy (frontal lobe)" "" "" "" "" "" "" "" "" "intellectual disability" "0000357231" "05086" "00472421" "00006" "Isolated (sporadic)" "9y" "see paper; ..., normal pregnancy, normal delivery; no hypotonia; 9m-sit; 15m-walk; ataxia; tremor; dysmetria; no dysarthria; delayed oral/written language development; no intellectual disability; normal behavior; normal schooling with educational adjustments; stable development; 3y-severe bilateral sensorineural deafness, many otitis before diagnosis; normal ears; oculomotor apraxia, hypermetropia; 3y-MRI brain short mesencephalon, small protuberance with linear T1 hypointense/T2 hyperintense signal abnormality, laterally enlarged medulla, with anterior cleft, small vermis (widening fissures), subtle dysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal" "3y" "" "" "" "" "" "" "" "hearing loss, neurodevelopmental disorder" "0000357232" "05086" "00472422" "00006" "Unknown" "42y" "see paper; ..., normal pregnancy, normal delivery; 30m-walk; very slight ataxia; tremor; dysmetria; no dysarthria, language delay; no intellectual disability; normal behavior; normal but vocationnal schooling; stable development; 3y-mild-moderate bilateral sensorineural deafness; normal ears; no ophthalmological anomalies; 42y-MRI brain short mesencephalon, small triangular protuberance with linear signal on sagittal sections (hyposignal T1, hypersignal T2), laterally enlarged medulla, with anterior cleft, slight dysplasiavermis, subtle dysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal, absence of dorsal transverse pontine fibers and medial lemniscus" "3y" "" "" "" "" "" "" "" "hearing loss" "0000357233" "05086" "00472423" "00006" "Familial, autosomal dominant" "38y" "see paper; ..., normal pregnancy, normal delivery; no ataxia; no tremor; no dysmetria; no dysarthria; normal speech; no intellectual disability; normal behavior; schooling difficulties; stable development; 7y-mild bilateral sensorineural deafness; normal ears; 38y-MRI brain short mesencephalon, small protuberance with abnormal T1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal cochlea, normal semi-circular canal" "" "" "" "" "" "" "" "" "hearing loss" "0000357234" "05086" "00472424" "00006" "Unknown" "56y" "see paper; ..., normal pregnancy, normal delivery; no dysarthria; 15y-migraine (2-3 times a week); no intellectual disability; normal behavior; schooling difficulties; 3y-moderate bilateral sensorineural deafness, failed perinatal hearing screening; normal ears; 55y-MRI brain short mesencephalon, flattened protuberance with abnormal signal, laterally enlarged medulla, with anterior cleft, normal vermis, normal cerebellar hemispheres" "" "" "" "" "" "" "" "" "hearing loss" "0000357235" "05086" "00472425" "00006" "Familial, autosomal dominant" "4y5m" "see paper; ..., pregnancy small weight; hypotonia; <9m-sit; 19m-walk, mtor delay; slight balance troubles; no tremor; no dysmetria; no dysarthria; 2y-uncomplicated febrile seizure, 3y-uncomplicated febrile seizure; delayed language; intellectual disability (probably related to RNU4-2 pathogenic variant); normal behavior; learning difficulties; mild bilateral deafness; normal ears; no ophthalmological anomalies; 4y9m-MRI brain short mesencephalon, pontine hypoplasia with hyposignal T1, anteroposterior flattening medulla, vermian hypoplasia, slight hypoplasia cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal" "1y" "" "" "" "" "" "" "" "hearing loss" "0000357236" "05086" "00472426" "00006" "Isolated (sporadic)" "3y6m" "see paper; ..., normal pregnancy, normal delivery; no hypotonia; delayed sitting; 19m-walk; no ataxia; no tremor; dysmetria; dysarthria; impaired fine motor skills, frequent falling; speech delay (1y); no intellectual disability; impaired social interactions, impaired decision making; learning difficulties; 1m-moderate bilateral sensorineural deafness; normal ears; strabism; 5y4m-MRI brain short mesencephalon, thin pons, small protuberance with abnormal signal, accentuation bulbo-protuberantial groove, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal, absence of dorsal transverse pontine fibers and medial lemniscus" "1m" "" "" "" "" "" "" "" "hearing loss" "0000357237" "05086" "00472427" "00006" "Isolated (sporadic)" "7y" "see paper; ..., normal pregnancy, normal delivery; did not pass neonatal hearing screening; no hypotonia; normal sitting; 18m-walk; no ataxia; no tremor; no dysmetria; no dysarthria; 3.y3m-speech therapy, after speech clear; no intellectual disability; normal behavior; attends regular school, normal, no special needs; development age appropriate; 7m-moderate symmetric bilateral sensorineural \"flat\" hearing loss, failed neonatal hearing screening, problems with otitis media with effusion; normal ears; bilateral epicanthal folds; single palmar crease left hand; 2y-MRI brain short mesencephalon, flattened protuberance with abnormalT1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal" "3m" "" "" "" "" "" "" "" "hearing loss" "0000357238" "05086" "00472428" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., normal pregnancy, normal delivery; hypotonia; nystagmus; not sitting; not walking; truncal ataxia; no tremor; no dysmetria; no speech; no speech; severe intellectual disability; severe behavioral anomalies, temper tantrums, aggressivity, inappropriate laughing, crying; development slow progress then stagnation, no regression; 5y-profound bilateral sensorineural deafness; normal ears; 2m-nystagmus, strabism; hypertelorism; 22y-MRI brain normal mesencephalon, major pons hypoplasia, absence protuberance’s bulging, hypoplasia medulla, antero posterior flattening medulla, severe vermian hypoplasia (near absence), hypodysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal" "2m" "" "" "" "" "" "" "" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000362760" "00361532" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000474090" "00472421" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000474091" "00472422" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ" "DNA" "" "" "0000474092" "00472423" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000474093" "00472424" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000474094" "00472425" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000474095" "00472426" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000474096" "00472427" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000474097" "00472428" "1" "00006" "00006" "2026-02-12 09:41:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000362760" "ATOH1" "0000474091" "ATOH1" ## 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 = 12 "{{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}}" "0000763134" "3" "90" "4" "94750289" "94750289" "del" "0" "00006" "ATOH1_000001" "g.94750289del" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.93829138del" "" "pathogenic" "" "0000859638" "0" "50" "4" "94750894" "94750894" "subst" "0.000115141" "02327" "ATOH1_000002" "g.94750894C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886453" "0" "50" "4" "94750342" "94750342" "subst" "4.56775E-6" "02327" "ATOH1_000003" "g.94750342G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963308" "0" "50" "4" "94751102" "94751102" "subst" "0" "02327" "ATOH1_000004" "g.94751102C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068235" "0" "90" "4" "94751107" "94751107" "dup" "0" "00006" "ATOH1_000007" "g.94751107dup" "" "{PMID:Bertola 2026:41592563}" "" "" "" "De novo" "" "" "0" "" "" "g.93829956dup" "" "pathogenic (dominant)" "" "0001068236" "0" "90" "4" "94750930" "94750933" "dup" "0" "00006" "ATOH1_000006" "g.94750930_94750933dup" "" "{PMID:Bertola 2026:41592563}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93829779_93829782dup" "" "pathogenic (dominant)" "" "0001068237" "21" "90" "4" "94751130" "94751130" "del" "0" "00006" "ATOH1_000008" "g.94751130del" "" "{PMID:Bertola 2026:41592563}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93829979del" "" "pathogenic (dominant)" "" "0001068238" "0" "90" "4" "94751130" "94751130" "del" "0" "00006" "ATOH1_000008" "g.94751130del" "" "{PMID:Bertola 2026:41592563}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93829979del" "" "pathogenic (dominant)" "" "0001068239" "11" "90" "4" "94751130" "94751130" "del" "0" "00006" "ATOH1_000008" "g.94751130del" "" "{PMID:Bertola 2026:41592563}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93829979del" "" "pathogenic (dominant)" "" "0001068240" "0" "90" "4" "94751107" "94751107" "dup" "0" "00006" "ATOH1_000007" "g.94751107dup" "" "{PMID:Bertola 2026:41592563}" "" "" "" "De novo" "" "" "0" "" "" "g.93829956dup" "" "pathogenic (dominant)" "" "0001068241" "0" "90" "4" "94751107" "94751107" "dup" "0" "00006" "ATOH1_000007" "g.94751107dup" "" "{PMID:Bertola 2026:41592563}" "" "" "" "De novo" "" "" "0" "" "" "g.93829956dup" "" "pathogenic (dominant)" "" "0001068242" "3" "70" "4" "94750179" "94750179" "dup" "0" "00006" "ATOH1_000005" "g.94750179dup" "" "{PMID:Bertola 2026:41592563}" "" "" "" "Germline" "" "" "0" "" "" "g.93829028dup" "" "likely pathogenic (recessive)" "" ## 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 ATOH1 ## Count = 12 "{{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}}" "0000763134" "00003054" "90" "212" "0" "212" "0" "c.212del" "r.(?)" "p.(Gly71AlafsTer36)" "" "0000859638" "00003054" "50" "817" "0" "817" "0" "c.817C>G" "r.(?)" "p.(Arg273Gly)" "" "0000886453" "00003054" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Ala89Thr)" "" "0000963308" "00003054" "50" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Ser342Phe)" "" "0001068235" "00003054" "90" "1030" "0" "1030" "0" "c.1030dup" "r.(?)" "p.(His344ProfsTer6)" "" "0001068236" "00003054" "90" "853" "0" "856" "0" "c.853_856dup" "r.(?)" "p.(Ser286LeufsTer65)" "" "0001068237" "00003054" "90" "1053" "0" "1053" "0" "c.1053del" "r.(?)" "p.(Asp351GlufsTer11)" "" "0001068238" "00003054" "90" "1053" "0" "1053" "0" "c.1053del" "r.(?)" "p.(Asp351GlufsTer11)" "" "0001068239" "00003054" "90" "1053" "0" "1053" "0" "c.1053del" "r.(?)" "p.(Asp351GlufsTer11)" "" "0001068240" "00003054" "90" "1030" "0" "1030" "0" "c.1030dup" "r.(?)" "p.(His344ProfsTer6)" "" "0001068241" "00003054" "90" "1030" "0" "1030" "0" "c.1030dup" "r.(?)" "p.(His344ProfsTer6)" "" "0001068242" "00003054" "70" "102" "0" "102" "0" "c.102dup" "r.(?)" "p.(Pro35AlafsTer18)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000362760" "0000763134" "0000474090" "0001068235" "0000474091" "0001068236" "0000474092" "0001068237" "0000474093" "0001068238" "0000474094" "0001068239" "0000474095" "0001068240" "0000474096" "0001068241" "0000474097" "0001068242"