### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM178A)
# 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}}"
"FAM178A" "family with sequence similarity 178, member A" "10" "q24.31" "unknown" "NC_000010.10" "UD_132319369910" "" "https://www.LOVD.nl/SLF2" "" "1" "17814" "55719" "610348" "1" "1" "1" "1" "NOTE: gene name changed from FAM178A to SLF2\r\nLinked to syndromic microcephaly by Ullah ASHG2020.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FAM178A_codingDNA.html" "1" "" "NOTE: gene name changed from FAM178A to SLF2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-30 16:14:38" "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}}"
"00007642" "FAM178A" "transcript variant 1" "001" "NM_018121.3" "" "NP_060591.3" "" "" "" "-542" "6744" "3522" "102672326" "102724891" "" "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}}"
"05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FAM178A" "05421"
## 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}}"
"00315964" "" "" "" "1" "" "00006" "Ullah ASHG2020" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" ""
"00315965" "" "" "" "1" "" "00006" "Ullah ASHG2020" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" ""
"00315966" "" "" "" "1" "" "00006" "Ullah ASHG2020" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" ""
"00315967" "" "" "" "2" "" "00006" "Ullah ASHG2020" "2-generation family, affected brother/sister, unaffected parents" "F;M" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00315964" "05421"
"00315965" "05421"
"00315966" "05421"
"00315967" "05421"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05421
## Count = 4
"{{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}}"
"0000239709" "05421" "00315964" "00006" "Familial, autosomal recessive" "" "microcephaly, facial dysmorphism, nasal bridges, eczema, epilepsy, short stature, global developmental delay" "" "" "" "" "" "" "" "" "syndromic microcephaly"
"0000239710" "05421" "00315965" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
"0000239711" "05421" "00315966" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
"0000239712" "05421" "00315967" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "syndromic microcephaly"
## 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}}"
"0000317146" "00315964" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317147" "00315965" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317148" "00315966" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317149" "00315967" "1" "00006" "00006" "2020-10-30 22:33:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000317146" "FAM178A"
"0000317147" "FAM178A"
"0000317148" "FAM178A"
"0000317149" "FAM178A"
## 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 = 9
"{{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}}"
"0000255894" "0" "50" "10" "102689619" "102689619" "subst" "0" "01943" "FAM178A_000001" "g.102689619A>G" "" "" "" "SLF2(NM_018121.4):c.2198A>G (p.D733G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100929862A>G" "" "VUS" ""
"0000538881" "0" "50" "10" "102716290" "102716290" "subst" "0" "01943" "FAM178A_000002" "g.102716290C>G" "" "" "" "SLF2(NM_018121.4):c.3413C>G (p.T1138S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100956533C>G" "" "VUS" ""
"0000699347" "1" "90" "10" "102697166" "102697166" "subst" "0" "00006" "FAM178A_000006" "g.102697166C>G" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "g.100937409C>G" "" "pathogenic (recessive)" ""
"0000699348" "2" "90" "10" "102719253" "102719253" "" "0" "00006" "FAM178A_000004" "g.102719253G>Y" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "g.100959496G>Y" "" "pathogenic (recessive)" ""
"0000699349" "3" "90" "10" "102683764" "102683764" "dup" "0" "00006" "FAM178A_000005" "g.102683764dup" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "g.100924007dup" "" "pathogenic (recessive)" ""
"0000699350" "3" "90" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000699351" "1" "90" "10" "102698421" "102698421" "subst" "4.06769E-6" "00006" "FAM178A_000003" "g.102698421A>T" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "g.100938664A>T" "" "pathogenic (recessive)" ""
"0000699352" "2" "90" "10" "102703847" "102703847" "dup" "0" "00006" "FAM178A_000007" "g.102703847dup" "" "Ullah ASHG2020" "" "" "" "Germline" "" "" "0" "" "" "g.100944090dup" "" "pathogenic (recessive)" ""
"0001037679" "0" "30" "10" "102707593" "102707593" "subst" "0.000526075" "01804" "FAM178A_000008" "g.102707593A>G" "" "" "" "SLF2(NM_018121.4):c.3109A>G (p.(Ser1037Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 FAM178A
## Count = 9
"{{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}}"
"0000255894" "00007642" "50" "2198" "0" "2198" "0" "c.2198A>G" "r.(?)" "p.(Asp733Gly)" ""
"0000538881" "00007642" "50" "3413" "0" "3413" "0" "c.3413C>G" "r.(?)" "p.(Thr1138Ser)" ""
"0000699347" "00007642" "90" "2444" "0" "2444" "0" "c.2444C>G" "r.(?)" "p.(Ser815*)" ""
"0000699348" "00007642" "90" "3486" "0" "3486" "0" "c.3486G>Y" "r.spl?" "p.(Gln1162His)" ""
"0000699349" "00007642" "90" "1006" "0" "1006" "0" "c.1006dup" "r.(?)" "p.(Arg336Lysfs*27)" ""
"0000699350" "00007642" "90" "0" "0" "0" "0" "c.?" "r.3253_3330del" "p.Ala1085_Arg1110del" ""
"0000699351" "00007642" "90" "2582" "0" "2582" "0" "c.2582A>T" "r.(?)" "p.(Asn861Ile)" ""
"0000699352" "00007642" "90" "2719" "0" "2719" "0" "c.2719dup" "r.(?)" "p.(Ser907Phefs*5)" ""
"0001037679" "00007642" "30" "3109" "0" "3109" "0" "c.3109A>G" "r.(?)" "p.(Ser1037Gly)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000317146" "0000699347"
"0000317146" "0000699348"
"0000317147" "0000699349"
"0000317148" "0000699350"
"0000317149" "0000699351"
"0000317149" "0000699352"