### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLCH1) # 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}}" "PLCH1" "phospholipase C, eta 1" "3" "q25" "unknown" "NC_000003.11" "UD_133490803779" "" "https://www.LOVD.nl/PLCH1" "" "1" "29185" "23007" "612835" "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/PLCH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-04 17:32:57" "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}}" "00016306" "PLCH1" "transcript variant 2" "001" "NM_014996.2" "" "NP_055811.1" "" "" "" "-74" "6054" "4968" "155421997" "155197671" "" "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}}" "00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00406737" "" "" "" "2" "" "00006" "{PMID:Drissi 2022:33820834}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat1" "00406738" "" "" "" "2" "" "00006" "{PMID:Drissi 2022:33820834}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat1" "00406739" "" "" "00406737" "1" "" "00006" "{PMID:Drissi 2022:33820834}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1Pat2" "00406740" "" "" "00406738" "1" "" "00006" "{PMID:Drissi 2022:33820834}" "sister" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00406737" "00438" "00406738" "00438" "00406739" "00438" "00406740" "00438" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00438 ## 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}}" "0000299187" "00438" "00406737" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, holoprosencephaly, no cyclopia, no proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "holoprosencephaly" "0000299188" "00438" "00406738" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "holoprosencephaly" "0000299189" "00438" "00406739" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, holoprosencephaly, no cyclopia, no proboscis, no cleft lip, no congenital heart disease" "" "" "" "" "" "" "" "" "holoprosencephaly" "0000299190" "00438" "00406740" "00006" "Familial, autosomal recessive" "" "see paper; ..., hydrocephalus, severe holoprosencephaly, cyclopia, proboscis, cleft lip, congenital heart disease" "" "" "" "" "" "" "" "" "holoprosencephaly" ## 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}}" "0000407984" "00406737" "1" "00006" "00006" "2022-04-04 17:40:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407985" "00406738" "1" "00006" "00006" "2022-04-04 17:47:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407986" "00406739" "1" "00006" "00006" "2022-04-04 17:49:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000407987" "00406740" "1" "00006" "00006" "2022-04-04 17:50:12" "" "" "SEQ;SEQ-NG" "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 = 14 "{{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}}" "0000305837" "0" "30" "3" "155198901" "155198901" "subst" "4.06147E-5" "01943" "PLCH1_000001" "g.155198901G>C" "" "" "" "PLCH1(NM_001130960.1):c.4938C>G (p.G1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155481112G>C" "" "likely benign" "" "0000844844" "3" "90" "3" "155212011" "155212011" "subst" "4.0621E-6" "00006" "PLCH1_000002" "g.155212011G>A" "" "{PMID:Drissi 2022:33820834}" "" "NM_001130960.1:c.2065C>T" "" "Germline" "yes" "" "0" "" "" "g.155494222G>A" "" "pathogenic (recessive)" "" "0000844845" "3" "90" "3" "155200604" "155200604" "del" "0" "00006" "PLCH1_000003" "g.155200604del" "" "{PMID:Drissi 2022:33820834}" "" "NM_001130960.1:c.3235delT" "" "Germline" "yes" "" "0" "" "" "g.155482815del" "" "pathogenic (recessive)" "" "0000844846" "3" "90" "3" "155212011" "155212011" "subst" "4.0621E-6" "00006" "PLCH1_000002" "g.155212011G>A" "" "{PMID:Drissi 2022:33820834}" "" "NM_001130960.1:c.2065C>T" "" "Germline" "yes" "" "0" "" "" "g.155494222G>A" "" "pathogenic (recessive)" "" "0000844847" "3" "90" "3" "155200604" "155200604" "del" "0" "00006" "PLCH1_000003" "g.155200604del" "" "{PMID:Drissi 2022:33820834}" "" "NM_001130960.1:c.3235delT" "" "Germline" "yes" "" "0" "" "" "g.155482815del" "" "pathogenic (recessive)" "" "0000885611" "0" "50" "3" "155282851" "155282851" "subst" "4.06491E-6" "02325" "PLCH1_000004" "g.155282851C>T" "" "" "" "PLCH1(NM_001130960.2):c.886G>A (p.E296K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928731" "0" "50" "3" "155199812" "155199812" "subst" "0" "02325" "PLCH1_000005" "g.155199812C>T" "" "" "" "PLCH1(NM_001130960.2):c.4027G>A (p.D1343N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975635" "0" "50" "3" "155199331" "155199331" "subst" "0" "01804" "PLCH1_000006" "g.155199331A>T" "" "" "" "PLCH1(NM_014996.4):c.4484T>A (p.(Ile1495Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975636" "0" "30" "3" "155241680" "155241680" "subst" "0.000693199" "01804" "PLCH1_000007" "g.155241680A>G" "" "" "" "PLCH1(NM_014996.4):c.1470+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975637" "0" "50" "3" "155267682" "155267682" "subst" "0" "01804" "PLCH1_000008" "g.155267682T>C" "" "" "" "PLCH1(NM_014996.4):c.1256A>G (p.(Tyr419Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975638" "0" "50" "3" "155421944" "155421944" "subst" "0" "01804" "PLCH1_000009" "g.155421944C>T" "" "" "" "PLCH1(NM_014996.4):c.70G>A (p.(Val24Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033768" "0" "50" "3" "155198945" "155198945" "subst" "7.31024E-5" "01804" "PLCH1_000010" "g.155198945C>T" "" "" "" "PLCH1(NM_014996.4):c.4870G>A (p.(Gly1624Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033769" "0" "50" "3" "155222375" "155222375" "subst" "0.000247841" "01804" "PLCH1_000011" "g.155222375C>T" "" "" "" "PLCH1(NM_014996.4):c.1673G>A (p.(Arg558Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033770" "0" "50" "3" "155232562" "155232562" "subst" "0.000138405" "01804" "PLCH1_000012" "g.155232562G>A" "" "" "" "PLCH1(NM_014996.4):c.1582C>T (p.(Arg528Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PLCH1 ## Count = 14 "{{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}}" "0000305837" "00016306" "30" "4824" "0" "4824" "0" "c.4824C>G" "r.(?)" "p.(Gly1608=)" "" "0000844844" "00016306" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671*)" "" "0000844845" "00016306" "90" "3121" "0" "3121" "0" "c.3121del" "r.(?)" "p.(Cys1041Valfs*17)" "" "0000844846" "00016306" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671*)" "" "0000844847" "00016306" "90" "3121" "0" "3121" "0" "c.3121del" "r.(?)" "p.(Cys1041Valfs*17)" "" "0000885611" "00016306" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Glu278Lys)" "" "0000928731" "00016306" "50" "3913" "0" "3913" "0" "c.3913G>A" "r.(?)" "p.(Asp1305Asn)" "" "0000975635" "00016306" "50" "4394" "0" "4394" "0" "c.4394T>A" "r.(?)" "p.(Ile1465Asn)" "" "0000975636" "00016306" "30" "1380" "6" "1380" "6" "c.1380+6T>C" "r.(=)" "p.(=)" "" "0000975637" "00016306" "50" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(Tyr389Cys)" "" "0000975638" "00016306" "50" "-21" "0" "-21" "0" "c.-21G>A" "r.(?)" "p.(=)" "" "0001033768" "00016306" "50" "4780" "0" "4780" "0" "c.4780G>A" "r.(?)" "p.(Gly1594Ser)" "" "0001033769" "00016306" "50" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528Gln)" "" "0001033770" "00016306" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000407984" "0000844844" "0000407985" "0000844845" "0000407986" "0000844846" "0000407987" "0000844847"