### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM83G) # 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}}" "FAM83G" "family with sequence similarity 83, member G" "17" "p11.2" "unknown" "NC_000017.10" "UD_136022228913" "" "https://www.LOVD.nl/FAM83G" "" "1" "32554" "644815" "615886" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-16 10:51:15" "00006" "2025-12-16 11:30:42" ## 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}}" "00007488" "FAM83G" "family with sequence similarity 83, member G" "001" "NM_001039999.2" "" "NP_001035088.2" "" "" "" "-167" "2763" "2472" "18908060" "18874381" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "07219" "PPK" "keratoderma, palmoplantar" "" "" "" "" "" "00006" "2025-12-16 10:00:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FAM83G" "07219" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00466203" "" "" "" "1" "" "04880" "{PMID:Parra 2025:40178140}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Algeria" "" "0" "" "" "" "patient" "00471096" "" "" "" "2" "" "00006" "{PMID:Maruthappu 2018:29138053}" "2-generation family, 2 affected (sister/brother), unaffected non-carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPatII1/2" "00471097" "" "" "" "1" "" "00006" "{PMID:Glennie 2024:39043225}" "2-generation family, 1 affected, unaffected heterozygous carrier sister" "F" "" "Spain" "" "0" "" "" "" "patient" "00471098" "" "" "" "1" "" "00006" "{PMID:Van Gisbergen 2025:39449644}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Netherlands" "" "0" "" "" "" "Pat1" "00471099" "" "" "" "1" "" "00006" "{PMID:Van Gisbergen 2025:39449644}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Netherlands" "" "0" "" "" "" "Pat2" "00471100" "" "" "" "1" "" "00006" "{PMID:Drogemuller 2014:24832243}" "affected Kromfohrländer dogs" "" "" "" "" "0" "" "" "" "Kromfohrländer dog" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00466203" "07219" "00471096" "07219" "00471097" "07219" "00471098" "07219" "00471099" "07219" "00471100" "07219" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 07219 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000355929" "07219" "00466203" "04880" "Familial, autosomal recessive" "33y" "see paper; ..., 2y-palmoplantar keratoderma palms/soles; bilateral hearing loss; hyperkeratosis heels/lateral face both soles/weight-bearing areas, hands lesions mainly located in fingertips; no hair anomalies, no tooth abnormalities" "" "" "" "" "" "" "" "palmoplantar keratoderma" "0000355930" "07219" "00471096" "00006" "Familial, autosomal recessive" "" "see paper; ..., palmoplantar keratoderma, leukonychia, exuberant curly scalp hair; 2y-progressive development yellowish thickened scaly skin palms/soles ; 10y-19yy-toenail dystrophy; soles diffuse, verrucous hyperkeratosis deep fissuring; thick, bushy hair" "" "" "" "" "" "" "" "palmoplantar keratoderma" "0000355931" "07219" "00471097" "00006" "Familial, autosomal recessive" "60y" "see paper; ..., 3y-alterations skin both hands/feet, hair, dystrophic nails; thin/curly/sparse hair, long upper eyelid eyelashes, poor dental enamel" "" "" "" "" "" "" "" "palmoplantar keratoderma" "0000355932" "07219" "00471098" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., 1d no erythroderma, no neonatal teeth; 2y-keratoderma ingertips, severe diffuse keratoderma with coarse white–yellow scales, painful fissures soles; fingernails mild leuconychia, dystrophic cuticles.; toenails white/brown discoloration, dystrophic with transverse ridges; long curly scalp hair, normal hair growth" "" "" "" "" "" "" "" "palmoplantar keratoderma" "0000355933" "07219" "00471099" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 3y-mild diffuse plantar keratoderma distal heels/distal hallux, painful fissures; nails dysplastic, thin/transverse ridges, white/opaque fingernails, dystrophic toenails; normal teeth, normal hair, normal sweating; 8y-mild scaly hyperkeratosis fingertips, palmar hyperlinearity, dystrophic cuticles with erythematous surrounding skin, mild keratotic plaques/keratosis pilaris skin extensor sides knees/elbows" "" "" "" "" "" "" "" "palmoplantar keratoderma" "0000355934" "07219" "00471100" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "footpad hyperkeratosis" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000467860" "00466203" "1" "04880" "04880" "2025-08-07 09:54:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000472766" "00471096" "1" "00006" "00006" "2025-12-16 10:47:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000472767" "00471097" "1" "00006" "00006" "2025-12-16 10:58:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000472768" "00471098" "1" "00006" "00006" "2025-12-16 11:06:29" "" "" "SEQ-NG" "DNA" "" "" "0000472769" "00471099" "1" "00006" "00006" "2025-12-16 11:21:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000472770" "00471100" "1" "00006" "00006" "2025-12-16 11:27:03" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000467860" "FAM83G" "0000472770" "FAM83G" ## 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}}" "0000325285" "0" "50" "17" "18918512" "18918529" "dup" "0" "01804" "SLC5A10_000002" "g.18918512_18918529dup" "" "" "" "SLC5A10(NM_001042450.1):c.1239_1240insCGGTACGGGGGTGGGGGC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19015199_19015216dup" "" "VUS" "" "0000339134" "0" "90" "17" "18907183" "18907183" "subst" "0" "02327" "FAM83G_000001" "g.18907183A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19003870A>T" "" "pathogenic" "" "0000560631" "0" "50" "17" "18872390" "18872393" "del" "0" "01804" "FAM83G_000002" "g.18872390_18872393del" "" "" "" "SLC5A10(NM_152351.4):c.476_479del (p.(Phe160CysfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18969077_18969080del" "" "VUS" "" "0000560634" "0" "30" "17" "18881605" "18881605" "subst" "0.00561461" "01804" "FAM83G_000005" "g.18881605C>A" "" "" "" "FAM83G(NM_001039999.2):c.1374G>T (p.(Gln458His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18978292C>A" "" "likely benign" "" "0000692285" "0" "30" "17" "18925246" "18925246" "subst" "0" "01943" "FAM83G_000007" "g.18925246G>T" "" "" "" "GRAP(NM_001330148.1):c.511C>A (p.R171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854781" "0" "50" "17" "18925387" "18925387" "subst" "0.000183738" "01943" "FAM83G_000008" "g.18925387C>T" "" "" "" "GRAP(NM_006613.3):c.539G>A (p.R180H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968726" "0" "50" "17" "18891678" "18891678" "subst" "0" "02327" "FAM83G_000009" "g.18891678T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968727" "0" "70" "17" "18907093" "18907095" "inv" "0" "02327" "FAM83G_000010" "g.18907093_18907095inv" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041683" "0" "50" "17" "18881091" "18881091" "subst" "0.00248061" "02325" "FAM83G_000004" "g.18881091G>A" "" "" "" "FAM83G(NM_001039999.3):c.1888C>T (p.R630W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047221" "3" "70" "17" "18881131" "18881131" "del" "0" "04880" "FAM83G_000011" "g.18881131del" "" "{PMID:Parra 2025:40178140}" "" "1848delA" "candidate disease gene" "Germline" "" "" "0" "" "" "g.18977818del" "" "likely pathogenic (recessive)" "" "0001061492" "3" "70" "17" "18907254" "18907254" "subst" "0" "00006" "FAM83G_000012" "g.18907254G>T" "" "{PMID:Maruthappu 2018:29138053}" "" "" "candidate disease gene" "Germline" "yes" "" "0" "" "" "g.19003941G>T" "" "likely pathogenic (recessive)" "" "0001061494" "3" "70" "17" "18882883" "18882883" "subst" "0" "00006" "FAM83G_000013" "g.18882883C>G" "" "{PMID:Glennie 2024:39043225}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.18979570C>G" "" "likely pathogenic (recessive)" "" "0001061495" "3" "90" "17" "18827142" "18927741" "del" "0" "00006" "FAM83G_000014" "g.(18814651_18827142)_(18927741_18933440)del" "" "{PMID:Van Gisbergen 2025:39449644}" "" "" "deletion incl. SLC5A10, PRPSAP2, GRAP" "Germline" "" "" "0" "" "" "g.(18911338_18923829)_(19024428_19030127)del" "" "pathogenic (recessive)" "" "0001061496" "3" "70" "17" "18907183" "18907183" "subst" "0" "00006" "FAM83G_000001" "g.18907183A>T" "" "{PMID:Van Gisbergen 2025:39449644}" "" "" "" "Germline" "" "" "0" "" "" "g.19003870A>T" "" "likely pathogenic (recessive)" "" "0001061497" "3" "90" "17" "18907200" "18907200" "subst" "0" "00006" "FAM83G_000015" "g.(18907200C>G)" "" "{PMID:Drogemuller 2014:24832243}" "" "" "varaiiant mapped to relative position in human transcript" "animal model" "yes" "" "0" "" "" "g.(19003887C>G)" "" "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 FAM83G ## 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}}" "0000325285" "00007488" "50" "-10635" "0" "-10618" "0" "c.-10635_-10618dup" "r.(?)" "p.(=)" "" "0000339134" "00007488" "90" "172" "0" "172" "0" "c.172T>A" "r.(?)" "p.(Phe58Ile)" "" "0000560631" "00007488" "50" "4754" "0" "4757" "0" "c.*2282_*2285del" "r.(=)" "p.(=)" "" "0000560634" "00007488" "30" "1374" "0" "1374" "0" "c.1374G>T" "r.(?)" "p.(Gln458His)" "" "0000692285" "00007488" "30" "-17353" "0" "-17353" "0" "c.-17353C>A" "r.(?)" "p.(=)" "" "0000854781" "00007488" "50" "-17494" "0" "-17494" "0" "c.-17494G>A" "r.(?)" "p.(=)" "" "0000968726" "00007488" "50" "572" "0" "572" "0" "c.572A>T" "r.(?)" "p.(Asp191Val)" "" "0000968727" "00007488" "70" "260" "0" "262" "0" "c.260_262inv" "r.(?)" "p.(Ser87*)" "" "0001041683" "00007488" "50" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630Trp)" "" "0001047221" "00007488" "70" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu617Argfs*6)" "" "0001061492" "00007488" "70" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Ala34Glu)" "2" "0001061494" "00007488" "70" "794" "0" "794" "0" "c.794G>C" "r.(?)" "p.(Arg265Pro)" "" "0001061495" "00007488" "90" "0" "0" "0" "0" "c.(?_-184)_(*2570_?)​del)" "r.0" "p.0" "" "0001061496" "00007488" "70" "172" "0" "172" "0" "c.172T>A" "r.(?)" "p.(Phe58Ile)" "" "0001061497" "00007488" "90" "155" "0" "155" "0" "c.(155G>C)" "r.(155G>C)" "p.(Arg52Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000467860" "0001047221" "0000472766" "0001061492" "0000472767" "0001061494" "0000472768" "0001061495" "0000472769" "0001061496" "0000472770" "0001061497"