### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM189A1)
# 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}}"
"FAM189A1" "family with sequence similarity 189, member A1" "15" "q12" "unknown" "NC_000015.9" "UD_132319886916" "" "https://www.LOVD.nl/ENTREP2" "" "1" "29075" "23359" "" "1" "1" "1" "1" "NOTE: gene name changed from FAM189A1 to ENTREP2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM189A1 to ENTREP2" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-08-19 13:51:12" "00000" "2025-07-08 13:22:38"
## 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}}"
"00001496" "FAM189A1" "family with sequence similarity 189, member A1" "001" "NM_015307.1" "" "NP_056122.1" "" "" "" "1" "4707" "1620" "29412455" "29862927" "00000" "2012-09-13 13:36:21" "" ""
## 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}}"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 01157
## Count = 1
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 20
"{{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}}"
"0000005436" "3" "50" "15" "29750584" "29750584" "subst" "0" "00037" "FAM189A1_000001" "g.29750584A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.29458380A>G" "" "VUS" ""
"0000296343" "0" "90" "15" "29561120" "29561120" "subst" "7.71511E-5" "02325" "NDNL2_000001" "g.29561120G>A" "" "" "" "NSMCE3(NM_138704.4):c.790C>T (p.L264F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29268916G>A" "" "pathogenic" ""
"0000299937" "0" "90" "15" "29561120" "29561120" "subst" "7.71511E-5" "02326" "NDNL2_000001" "g.29561120G>A" "" "" "" "NSMCE3(NM_138704.4):c.790C>T (p.L264F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29268916G>A" "" "pathogenic" ""
"0000302950" "0" "50" "15" "29561562" "29561562" "subst" "0" "01943" "FAM189A1_000002" "g.29561562G>C" "" "" "" "NDNL2(NM_138704.3):c.348C>G (p.I116M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29269358G>C" "" "VUS" ""
"0000553843" "0" "50" "15" "29561606" "29561606" "subst" "0.00106482" "01943" "FAM189A1_000003" "g.29561606T>C" "" "" "" "NSMCE3(NM_138704.3):c.304A>G (p.K102E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29269402T>C" "" "VUS" ""
"0000553844" "0" "90" "15" "29561738" "29561738" "subst" "0" "01943" "FAM189A1_000004" "g.29561738G>A" "" "" "" "NSMCE3(NM_138704.3):c.172C>T (p.Q58*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29269534G>A" "" "pathogenic" ""
"0000553845" "0" "50" "15" "29561755" "29561755" "subst" "0" "01943" "FAM189A1_000005" "g.29561755C>T" "" "" "" "NSMCE3(NM_138704.3):c.155G>A (p.R52H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29269551C>T" "" "VUS" ""
"0000553846" "0" "50" "15" "29561828" "29561828" "subst" "0" "01804" "FAM189A1_000006" "g.29561828C>G" "" "" "" "NDNL2(NM_138704.3):c.82G>C (p.(Gly28Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29269624C>G" "" "VUS" ""
"0000615215" "0" "50" "15" "29561252" "29561252" "subst" "6.09127E-5" "01943" "FAM189A1_000007" "g.29561252T>C" "" "" "" "NSMCE3(NM_138704.3):c.658A>G (p.K220E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29269048T>C" "" "VUS" ""
"0000725023" "0" "50" "15" "29561306" "29561307" "del" "0" "02325" "FAM189A1_000008" "g.29561306_29561307del" "" "" "" "NSMCE3(NM_138704.4):c.604_605delCT (p.L202Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725024" "0" "50" "15" "29561868" "29561868" "subst" "0.000543031" "01943" "FAM189A1_000009" "g.29561868C>G" "" "" "" "NSMCE3(NM_138704.3):c.42G>C (p.Q14H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725025" "0" "50" "15" "29561869" "29561869" "subst" "0.000559897" "01943" "FAM189A1_000010" "g.29561869T>G" "" "" "" "NSMCE3(NM_138704.3):c.41A>C (p.Q14P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863782" "0" "30" "15" "29561323" "29561323" "subst" "0" "02326" "FAM189A1_000011" "g.29561323G>C" "" "" "" "NSMCE3(NM_138704.4):c.587C>G (p.T196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000891986" "0" "30" "15" "29561625" "29561625" "subst" "6.11267E-5" "02326" "FAM189A1_000012" "g.29561625G>A" "" "" "" "NSMCE3(NM_138704.4):c.285C>T (p.F95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925947" "0" "30" "15" "29561146" "29561146" "subst" "0.00244851" "02326" "FAM189A1_000013" "g.29561146T>A" "" "" "" "NSMCE3(NM_138704.4):c.764A>T (p.N255I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930367" "0" "30" "15" "29561064" "29561064" "subst" "8.12117E-6" "02326" "FAM189A1_000014" "g.29561064G>A" "" "" "" "NSMCE3(NM_138704.4):c.846C>T (p.Y282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930368" "0" "30" "15" "29561442" "29561442" "subst" "2.03044E-5" "02326" "FAM189A1_000015" "g.29561442G>A" "" "" "" "NSMCE3(NM_138704.4):c.468C>T (p.N156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950322" "0" "30" "15" "29561415" "29561415" "subst" "0.00308266" "02326" "FAM189A1_000016" "g.29561415G>C" "" "" "" "NSMCE3(NM_138704.4):c.495C>G (p.A165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001001267" "0" "50" "15" "29415639" "29415639" "subst" "0" "01804" "FAM189A1_000017" "g.29415639G>A" "" "" "" "FAM189A1(NM_015307.1):c.1523C>T (p.(Ala508Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046489" "0" "70" "15" "29561120" "29561120" "subst" "7.71511E-5" "02327" "NDNL2_000001" "g.29561120G>A" "" "" "" "NSMCE3(NM_138704.4):c.790C>T (p.L264F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## 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 FAM189A1
## Count = 20
"{{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}}"
"0000005436" "00001496" "50" "220" "-76549" "220" "-76549" "c.220-76549T>C" "r.(=)" "p.(=)" ""
"0000296343" "00001496" "90" "277" "-16438" "277" "-16438" "c.277-16438C>T" "r.(=)" "p.(=)" ""
"0000299937" "00001496" "90" "277" "-16438" "277" "-16438" "c.277-16438C>T" "r.(=)" "p.(=)" ""
"0000302950" "00001496" "50" "277" "-16880" "277" "-16880" "c.277-16880C>G" "r.(=)" "p.(=)" ""
"0000553843" "00001496" "50" "277" "-16924" "277" "-16924" "c.277-16924A>G" "r.(=)" "p.(=)" ""
"0000553844" "00001496" "90" "277" "-17056" "277" "-17056" "c.277-17056C>T" "r.(=)" "p.(=)" ""
"0000553845" "00001496" "50" "277" "-17073" "277" "-17073" "c.277-17073G>A" "r.(=)" "p.(=)" ""
"0000553846" "00001496" "50" "277" "-17146" "277" "-17146" "c.277-17146G>C" "r.(=)" "p.(=)" ""
"0000615215" "00001496" "50" "277" "-16570" "277" "-16570" "c.277-16570A>G" "r.(=)" "p.(=)" ""
"0000725023" "00001496" "50" "277" "-16624" "277" "-16623" "c.277-16624_277-16623del" "r.(=)" "p.(=)" ""
"0000725024" "00001496" "50" "277" "-17186" "277" "-17186" "c.277-17186G>C" "r.(=)" "p.(=)" ""
"0000725025" "00001496" "50" "277" "-17187" "277" "-17187" "c.277-17187A>C" "r.(=)" "p.(=)" ""
"0000863782" "00001496" "30" "277" "-16641" "277" "-16641" "c.277-16641C>G" "r.(=)" "p.(=)" ""
"0000891986" "00001496" "30" "277" "-16943" "277" "-16943" "c.277-16943C>T" "r.(=)" "p.(=)" ""
"0000925947" "00001496" "30" "277" "-16464" "277" "-16464" "c.277-16464A>T" "r.(=)" "p.(=)" ""
"0000930367" "00001496" "30" "277" "-16382" "277" "-16382" "c.277-16382C>T" "r.(=)" "p.(=)" ""
"0000930368" "00001496" "30" "277" "-16760" "277" "-16760" "c.277-16760C>T" "r.(=)" "p.(=)" ""
"0000950322" "00001496" "30" "277" "-16733" "277" "-16733" "c.277-16733C>G" "r.(=)" "p.(=)" ""
"0001001267" "00001496" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ala508Val)" ""
"0001046489" "00001496" "70" "277" "-16438" "277" "-16438" "c.277-16438C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000005436"