### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM92A1) # 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}}" "FAM92A1" "family with sequence similarity 92, member A1" "8" "q22.1" "unknown" "NC_000008.10" "UD_136086925149" "" "https://www.LOVD.nl/FAM92A1" "" "1" "30452" "137392" "617273" "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/FAM92A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-06 09:47:38" "00006" "2024-05-06 10:02:08" ## 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}}" "00007513" "FAM92A1" "family with sequence similarity 92, member A1" "001" "NM_145269.3" "" "NP_660312.2" "" "" "" "-103" "1019" "870" "94712773" "94740674" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05628" "PAPA9" "polydactyly, postaxial, type A9" "AR" "618219" "" "autosomal recessive" "" "00006" "2019-07-23 08:58:12" "00006" "2024-05-06 09:59:46" "05630" "PAPA" "polydactyly, postaxial, type A (PAPA)" "" "" "" "" "" "00006" "2019-07-23 09:00:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FAM92A1" "05628" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00449723" "" "" "" "1" "" "03566" "" "" "M" "" "" "" "0" "" "" "" "FAM92A" "00449724" "" "" "" "1" "" "00006" "{PMID:Schrauwen 2019:30395363}" "5-generation family, 3 affected brothers, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBD152PatV1/2/3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00449723" "00198" "00449724" "05630" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05628, 05630 ## Count = 2 "{{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}}" "0000338893" "00198" "00449723" "03566" "Familial, autosomal recessive" "" "syndactyly" "" "" "" "" "" "" "" "" "PAPA9" "Post axial polydactyly type A" "" "0000338894" "05630" "00449724" "00006" "Familial, autosomal recessive" "" "see paper; ..., postaxial polydactyly (HP:0100259)" "" "" "" "" "" "" "" "" "" "nonsyndromic postaxial polydactyly type A" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451315" "00449723" "1" "03566" "03566" "2024-05-05 14:22:17" "" "" "SEQ-NG" "DNA" "" "" "0000451316" "00449724" "1" "00006" "00006" "2024-05-06 09:55:22" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000451315" "FAM92A1" ## 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 = 3 "{{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}}" "0000803759" "0" "50" "8" "94740472" "94740472" "subst" "2.123E-5" "01943" "FAM92A1_000001" "g.94740472G>C" "" "" "" "FAM92A(NM_145269.4):c.817G>C (p.D273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985167" "0" "90" "8" "94722032" "94722032" "subst" "0" "03566" "FAM92A1_000002" "g.94722032G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.93709804G>C" "" "likely pathogenic" "ACMG" "0000985168" "3" "90" "8" "94722038" "94722038" "subst" "2.03578E-5" "00006" "FAM92A1_000003" "g.94722038C>T" "" "{PMID:Schrauwen 2019:30395363}" "" "" "" "Germline" "yes" "rs368652620" "0" "" "" "g.93709810C>T" "" "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 FAM92A1 ## Count = 3 "{{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}}" "0000803759" "00007513" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Asp273His)" "" "0000985167" "00007513" "90" "472" "0" "472" "0" "c.472G>C" "r.(?)" "p.(Ala158Pro)" "6" "0000985168" "00007513" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000451315" "0000985167" "0000451316" "0000985168"