### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INPP4A) # 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}}" "INPP4A" "inositol polyphosphate-4-phosphatase, type I, 107kDa" "2" "q11.2" "unknown" "NG_029890.1" "UD_132084430937" "" "https://www.LOVD.nl/INPP4A" "" "1" "6074" "3631" "600916" "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/INPP4A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-12 20:53:13" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00010051" "INPP4A" "transcript variant b" "004" "NM_001566.2" "" "NP_001557.1" "" "" "" "-393" "2930" "2865" "99061321" "99198284" "" "0000-00-00 00:00:00" "" "" "00025718" "INPP4A" "transcript variant c" "004" "NM_001134225.1" "" "NP_001127697.1" "" "" "" "-393" "6344" "2919" "99061321" "99207496" "00006" "2022-07-12 20:52:11" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00413209" "" "" "" "5" "" "03578" "{PMID:Banihashemi 2020:31978615}" "4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "family" "00413239" "" "" "" "2" "" "03578" "{PMID:Sheffer 2015:25338135}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Israel" "" "0" "" "" "Arab;Moslem" "family" "00413240" "" "" "" "3" "" "03578" "{PMID:Najmabadi 2011:21937992}" "ifamily, 3 affected, first cousin parents" "" "yes" "Iran" "" "0" "" "" "" "Fam8500064" "00413241" "" "" "" "1" "" "03578" "{PMID:Hecher 2023:36653678}" "" "F" "yes" "Turkey" "02y03m?" "0" "" "" "" "patient" "00426187" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "yes" "Oman" "" "0" "" "" "" "10DK16000" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00413209" "00139" "00413239" "00787" "00413240" "00139" "00413241" "00841" "00426187" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00787, 00841 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000305190" "00139" "00413209" "03578" "Familial, autosomal recessive" "" "hypotonia at birth (HP:0001252), congenital paralysis (HP:0003470), motor delay\r\n(HP:0001270), speech delay (HP:0000750), intellectual disability (HP:0001249), muscular hypotonia (HP:0001252), strabismus (HP:0000486), generalized slow activity (HP:0010845), Large and low-set ears (HP:0000369, HP:0000400), tall and thin stature (HP:0000098), camptodactyly of all fingers (HP:0100490), skinny feet with pes cavus (HP:0001761)" "" "" "" "" "" "" "" "" "" "" "0000305220" "00787" "00413239" "03578" "Familial, autosomal recessive" "" "poor suck (HP:0002033); gastroesophageal reflux (HP:0002020); restlessness (HP:0000711); severe motor delay (HP:0001270); speech delay (HP:0000750); infantile axial hypotonia (HP:0009062); spastic tetraplegia (HP:0002510); opisthotonos (HP:0002179); cerebral visual impairment (HP:0100704); vertical nystagmus (HP:0010544); myoclonic seizures (HP:0032794); multifocal polyspike wave complexes (HP:0002392); cerebellar hypoplasia (HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); dilation of lateral and fourth ventricle (HP:0006956, HP:0002198); micrognathia (HP:0000347); high arched palate (HP:0000218); prominent metopic suture (HP:0005487); posterior bulge of the skull (HP:0000929); fisted hands (HP:0001155)" "" "" "" "" "" "" "" "" "" "" "0000305221" "00139" "00413240" "03578" "Familial, autosomal recessive" "" "moderate intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "0000305222" "00841" "00413241" "03578" "Familial, autosomal recessive" "02y03m" "Intrauterine growth retardation (HP:0001511); episodes of increased muscle tone (HP:0001276); screaming; opisthotonos (HP:0002179), sometimes with cyanosis (HP:0000961); severe motor delay (HP:0001270); speech delay (HP:0000750); profound intellectual disability (HP:0001249); infantile axial hypotonia (HP:0009062); poor head control (HP:0002421); spastic tetraplegia (HP:0002510); hyperreflexia (HP:0001347); clonus (HP:0002169); occasional opisthotonos (HP:0002179); spontaneous Babinski sign (HP:0003487); no fixation on objects; conjugated eye deviation (HP:0000496); strabismus (HP:0000486); myoclonic seizures (HP:0032794); multifocal and generalized epileptiform discharges (HP:0010841, HP:0011198); pontocerebellar hypoplasia (HP:0012110, HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); pes equinus (HP:0001762); adducted thumb (HP:0001181);\r\ncontractures of the hands (HP:0009473); congenital, generalized hypertrichosis (HP:0004540)" "" "" "" "" "" "" "" "" "" "" "0000317337" "00139" "00426187" "00006" "Familial, autosomal recessive" "8m" "Severe Global developmental delay and pontocerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000414480" "00413209" "1" "03578" "03578" "2022-07-12 11:23:54" "" "" "SEQ-NG" "DNA" "" "" "0000414511" "00413239" "1" "03578" "03578" "2022-07-13 06:33:20" "03578" "2022-07-13 06:48:03" "SEQ-NG" "DNA;RNA" "blood" "WES" "0000414512" "00413240" "1" "03578" "03578" "2022-07-13 06:53:19" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000414513" "00413241" "1" "03578" "03578" "2022-07-13 07:07:08" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000427507" "00426187" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000414480" "INPP4A" "0000414511" "INPP4A" "0000414512" "INPP4A" "0000414513" "INPP4A" ## 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}}" "0000289633" "0" "30" "2" "99162523" "99162523" "subst" "2.08672E-5" "01943" "INPP4A_000001" "g.99162523C>T" "" "" "" "INPP4A(NM_001134224.1):c.1041C>T (p.D347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98546060C>T" "" "likely benign" "" "0000289634" "0" "50" "2" "99170958" "99170958" "subst" "4.12398E-6" "01943" "INPP4A_000002" "g.99170958T>C" "" "" "" "INPP4A(NM_001134224.1):c.1581+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98554495T>C" "" "VUS" "" "0000517260" "0" "30" "2" "99163042" "99163042" "subst" "0" "01804" "INPP4A_000003" "g.99163042C>T" "" "" "" "INPP4A(NM_001134224.1):c.1055-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98546579C>T" "" "likely benign" "" "0000872158" "3" "90" "2" "99137158" "99137158" "subst" "0" "03578" "INPP4A_000004" "g.99137158C>T" "" "{PMID: Banihashemi 2020: 31978615}" "" "" "five members of the familiy affected" "Germline" "yes" "" "0" "" "" "g.98520695C>T" "" "pathogenic (recessive)" "ACMG" "0000872195" "3" "90" "2" "99171935" "99173706" "del" "0" "03578" "INPP4A_000006" "g.99171935_99173706del" "" "{PMID:Sheffer 2015:25338135}" "" "c.1581del256 99171935-99173706del" "" "Germline" "yes" "" "0" "" "" "g.98555472_98557243del" "" "pathogenic (recessive)" "ACMG" "0000872196" "3" "90" "2" "99198098" "99198098" "del" "0" "03578" "INPP4A_000007" "g.99198098del" "" "{PMID:Najmabadi 2011:21937992}" "" "chr2:98564530-98564530del1" "" "Germline" "yes" "" "0" "" "" "g.98581635del" "" "pathogenic (recessive)" "ACMG" "0000872197" "3" "90" "2" "99203977" "99203977" "del" "0" "03578" "INPP4A_000005" "g.99203977del" "" "{PMID:Hecher 2023:36653678}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98587514del" "" "pathogenic (recessive)" "ACMG" "0000904867" "3" "70" "2" "99193507" "99193507" "subst" "0" "00006" "INPP4A_000008" "g.99193507G>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001134224.1:c.2702G>C (Arg901Pro)" "reported as candidate disease gene" "Germline" "" "" "0" "" "" "g.98577044G>C" "" "VUS" "" "0000975475" "0" "50" "2" "99136511" "99136511" "subst" "0" "01804" "INPP4A_000009" "g.99136511C>G" "" "" "" "INPP4A(NM_001134225.2):c.-1C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975476" "0" "30" "2" "99172084" "99172098" "del" "0" "01804" "INPP4A_000010" "g.99172084_99172098del" "" "" "" "INPP4A(NM_001134225.2):c.1635_1649del (p.(Gln545_Leu549del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033543" "0" "30" "2" "99172276" "99172276" "subst" "5.22814E-5" "01804" "INPP4A_000011" "g.99172276G>A" "" "" "" "INPP4A(NM_001134225.2):c.1822+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050737" "0" "50" "2" "99155375" "99155375" "subst" "0" "01804" "INPP4A_000012" "g.99155375A>G" "" "" "" "INPP4A(NM_001134225.2):c.601A>G (p.(Ser201Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050738" "0" "30" "2" "99169439" "99169439" "subst" "2.63507E-5" "01804" "INPP4A_000013" "g.99169439G>A" "" "" "" "INPP4A(NM_001134225.2):c.1347+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050739" "0" "50" "2" "99175920" "99175920" "subst" "4.06187E-6" "01804" "INPP4A_000014" "g.99175920G>T" "" "" "" "INPP4A(NM_001134225.2):c.1823-6G>T" "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 INPP4A ## Count = 27 "{{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}}" "0000289633" "00010051" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Asp347=)" "" "0000289633" "00025718" "30" "1041" "0" "1041" "0" "c.1041C>T" "r.(?)" "p.(Asp347=)" "" "0000289634" "00010051" "50" "1581" "6" "1581" "6" "c.1581+6T>C" "r.(=)" "p.(=)" "" "0000289634" "00025718" "50" "1566" "6" "1566" "6" "c.1566+6T>C" "r.(=)" "p.(=)" "" "0000517260" "00010051" "30" "1055" "-7" "1055" "-7" "c.1055-7C>T" "r.(=)" "p.(=)" "" "0000517260" "00025718" "30" "1055" "-7" "1055" "-7" "c.1055-7C>T" "r.(=)" "p.(=)" "" "0000872158" "00010051" "90" "115" "0" "115" "0" "c.115C>T" "r.(115c>u)" "p.(Gln39*)" "4" "0000872158" "00025718" "90" "115" "0" "115" "0" "c.115C>T" "r.(115c>u)" "p.(Gln39*)" "4" "0000872195" "00010051" "90" "1582" "-81" "1720" "1552" "c.1582-81_1720+1552del" "r.1582_1720del" "p.Glu528Ilefs*22" "17" "0000872195" "00025718" "90" "1567" "-81" "1822" "1435" "c.1567-81_1822+1435del" "r.1567_1822del" "p.Glu523Ilefs*22" "16" "0000872196" "00010051" "90" "2744" "0" "2744" "0" "c.2744del" "r.(?)" "p.(Asp915Alafs*2)" "26" "0000872196" "00025718" "90" "2786" "4492" "2786" "4492" "c.2786+4492del" "r.(?)" "p.(?)" "" "0000872197" "00025718" "90" "2825" "0" "2825" "0" "c.2825del" "r.(?)" "p.(Gly942Glufs*12)" "25" "0000904867" "00010051" "70" "2585" "0" "2585" "0" "c.2585G>C" "r.(?)" "p.(Arg862Pro)" "" "0000904867" "00025718" "70" "2687" "0" "2687" "0" "c.2687G>C" "r.(?)" "p.(Arg896Pro)" "" "0000975475" "00010051" "50" "-1" "0" "-1" "0" "c.-1C>G" "r.(?)" "p.(=)" "" "0000975475" "00025718" "50" "-1" "0" "-1" "0" "c.-1C>G" "r.(?)" "p.(=)" "" "0000975476" "00010051" "30" "1650" "0" "1664" "0" "c.1650_1664del" "r.(?)" "p.(Gln550_Leu554del)" "" "0000975476" "00025718" "30" "1635" "0" "1649" "0" "c.1635_1649del" "r.(?)" "p.(Gln545_Leu549del)" "" "0001033543" "00010051" "30" "1720" "122" "1720" "122" "c.1720+122G>A" "r.(=)" "p.(=)" "" "0001033543" "00025718" "30" "1822" "5" "1822" "5" "c.1822+5G>A" "r.spl?" "p.?" "" "0001050737" "00010051" "50" "601" "0" "601" "0" "c.601A>G" "r.(?)" "p.(Ser201Gly)" "" "0001050737" "00025718" "50" "601" "0" "601" "0" "c.601A>G" "r.(?)" "p.(Ser201Gly)" "" "0001050738" "00010051" "30" "1362" "7" "1362" "7" "c.1362+7G>A" "r.(=)" "p.(=)" "" "0001050738" "00025718" "30" "1347" "7" "1347" "7" "c.1347+7G>A" "r.(=)" "p.(=)" "" "0001050739" "00010051" "50" "1721" "-6" "1721" "-6" "c.1721-6G>T" "r.(=)" "p.(=)" "" "0001050739" "00025718" "50" "1823" "-6" "1823" "-6" "c.1823-6G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000414480" "0000872158" "0000414511" "0000872195" "0000414512" "0000872196" "0000414513" "0000872197" "0000427507" "0000904867"