### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABHD16A) # 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}}" "ABHD16A" "abhydrolase domain containing 16A" "6" "p21.3" "unknown" "NC_000006.11" "UD_136070609225" "" "https://www.LOVD.nl/ABHD16A" "" "1" "13921" "7920" "142620" "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/ABHD16A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-06 07:38:22" "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}}" "00025637" "ABHD16A" "transcript variant 1" "002" "NM_021160.2" "" "NP_066983.1" "" "" "" "-79" "1940" "1677" "31671137" "31654726" "00006" "2021-10-06 07:37:07" "" "" ## 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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00384968" "" "" "" "2" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam1P1" "00384969" "" "" "00384968" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "sister" "F" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam1P2" "00384970" "" "" "" "2" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam2P3" "00384971" "" "" "00384970" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "sister" "F" "no" "Canada" "" "0" "" "" "French-Canadian" "Fam2P4" "00384972" "" "" "" "2" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "yes" "Armenia" "" "0" "" "" "" "Fam3P5" "00384973" "" "" "00384972" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "brother" "M" "yes" "Armenia" "" "0" "" "" "" "Fam3P6" "00384974" "" "" "" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "Europe" "Fam4P7" "00384975" "" "" "" "2" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam5P8" "00384976" "" "" "00384975" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "sister" "F" "yes" "Egypt" "" "0" "" "" "" "Fam5P9" "00384977" "" "" "" "2" "" "00006" "{PMID:Lemire 2021:34587489}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam6P10" "00384978" "" "" "00384977" "1" "" "00006" "{PMID:Lemire 2021:34587489}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam6P11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00384968" "05611" "00384969" "05611" "00384970" "05611" "00384971" "05611" "00384972" "05611" "00384973" "05611" "00384974" "05611" "00384975" "05611" "00384976" "05611" "00384977" "05611" "00384978" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 11 "{{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}}" "0000278750" "05611" "00384968" "00006" "Familial, autosomal recessive" "12y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no neuropathy; seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278751" "05611" "00384969" "00006" "Familial, autosomal recessive" "11y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278752" "05611" "00384970" "00006" "Familial, autosomal recessive" "14y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278753" "05611" "00384971" "00006" "Familial, autosomal recessive" "16y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; neuropathy; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278754" "05611" "00384972" "00006" "Familial, autosomal recessive" "21y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278755" "05611" "00384973" "00006" "Familial, autosomal recessive" "10y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; seizures; thin corpus callosum; white matter anomalies; autism spectrum disorder, self-injurious behavior" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278756" "05611" "00384974" "00006" "Familial, autosomal recessive" "5y" "intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; white matter anomalies; autism spectrum disorder, self-injurious behavior" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278757" "05611" "00384975" "00006" "Familial, autosomal recessive" "21y" "intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278758" "05611" "00384976" "00006" "Familial, autosomal recessive" "12y" "intellectual disability, global developmental delay; no upper limb spasticity; no joint contractures; no seizures; thin corpus callosum; no white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278759" "05611" "00384977" "00006" "Familial, autosomal recessive" "16y" "intellectual disability, global developmental delay; no upper limb spasticity; joint contractures; no seizures; no thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "0000278760" "05611" "00384978" "00006" "Familial, autosomal recessive" "12y" "intellectual disability, global developmental delay; upper limb spasticity; joint contractures; no seizures; no thin corpus callosum; white matter anomalies; no behavioral anomalies" "" "" "" "" "" "" "" "hereditary spastic paraplegia" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000386196" "00384968" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386197" "00384969" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386198" "00384970" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386199" "00384971" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386200" "00384972" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386201" "00384973" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386202" "00384974" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386203" "00384975" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386204" "00384976" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386205" "00384977" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000386206" "00384978" "1" "00006" "00006" "2021-10-06 08:14:41" "" "" "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 = 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}}" "0000720826" "0" "50" "6" "31656057" "31656057" "subst" "8.12348E-6" "01943" "ABHD16A_000001" "g.31656057G>A" "" "" "" "ABHD16A(NM_001177515.1):c.1177C>T (p.R393W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813597" "3" "70" "6" "31664801" "31664801" "subst" "8.29621E-6" "00006" "ABHD16A_000007" "g.31664801C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697024C>T" "" "likely pathogenic (recessive)" "" "0000813598" "3" "70" "6" "31664801" "31664801" "subst" "8.29621E-6" "00006" "ABHD16A_000007" "g.31664801C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697024C>T" "" "likely pathogenic (recessive)" "" "0000813599" "3" "70" "6" "31664801" "31664801" "subst" "8.29621E-6" "00006" "ABHD16A_000007" "g.31664801C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697024C>T" "" "likely pathogenic (recessive)" "" "0000813600" "3" "70" "6" "31664801" "31664801" "subst" "8.29621E-6" "00006" "ABHD16A_000007" "g.31664801C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697024C>T" "" "likely pathogenic (recessive)" "" "0000813601" "3" "70" "6" "31656524" "31656524" "subst" "0" "00006" "ABHD16A_000003" "g.31656524A>C" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31688747A>C" "" "likely pathogenic (recessive)" "" "0000813602" "3" "70" "6" "31656524" "31656524" "subst" "0" "00006" "ABHD16A_000003" "g.31656524A>C" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31688747A>C" "" "likely pathogenic (recessive)" "" "0000813603" "11" "70" "6" "31655855" "31655855" "subst" "4.12439E-6" "00006" "ABHD16A_000002" "g.31655855G>A" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31688078G>A" "" "likely pathogenic (recessive)" "" "0000813604" "3" "70" "6" "31664792" "31664792" "subst" "0" "00006" "ABHD16A_000006" "g.31664792T>A" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697015T>A" "" "likely pathogenic (recessive)" "" "0000813605" "3" "70" "6" "31664792" "31664792" "subst" "0" "00006" "ABHD16A_000006" "g.31664792T>A" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31697015T>A" "" "likely pathogenic (recessive)" "" "0000813606" "3" "70" "6" "31659444" "31659444" "subst" "0" "00006" "ABHD16A_000004" "g.31659444C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31691667C>T" "" "likely pathogenic (recessive)" "" "0000813607" "3" "70" "6" "31659444" "31659444" "subst" "0" "00006" "ABHD16A_000004" "g.31659444C>T" "" "{PMID:Lemire 2021:34587489}" "" "" "" "Germline" "" "" "0" "" "" "g.31691667C>T" "" "likely pathogenic (recessive)" "" "0000813608" "21" "70" "6" "31660861" "31660861" "del" "0" "00006" "ABHD16A_000005" "g.31660861del" "" "{PMID:Lemire 2021:34587489}" "" "573delG" "" "Germline" "" "" "0" "" "" "g.31693084del" "" "likely pathogenic (recessive)" "" "0001035672" "0" "30" "6" "31656018" "31656018" "subst" "1.6253E-5" "01804" "ABHD16A_000008" "g.31656018G>A" "" "" "" "ABHD16A(NM_021160.3):c.1307+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035673" "0" "50" "6" "31659640" "31659640" "subst" "0" "01804" "ABHD16A_000009" "g.31659640G>C" "" "" "" "ABHD16A(NM_021160.3):c.682C>G (p.(Leu228Val))" "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 ABHD16A ## 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}}" "0000720826" "00025637" "50" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Trp)" "" "0000813597" "00025637" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000813598" "00025637" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000813599" "00025637" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000813600" "00025637" "70" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118His)" "" "0000813601" "00025637" "70" "1226" "0" "1226" "0" "c.1226T>G" "r.(?)" "p.(Leu409Arg)" "" "0000813602" "00025637" "70" "1226" "0" "1226" "0" "c.1226T>G" "r.(?)" "p.(Leu409Arg)" "" "0000813603" "00025637" "70" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Ter)" "" "0000813604" "00025637" "70" "362" "0" "362" "0" "c.362A>T" "r.(?)" "p.(Asn121Ile)" "" "0000813605" "00025637" "70" "362" "0" "362" "0" "c.362A>T" "r.(?)" "p.(Asn121Ile)" "" "0000813606" "00025637" "70" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000813607" "00025637" "70" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000813608" "00025637" "70" "573" "0" "573" "0" "c.573del" "r.(?)" "p.(Thr192GlnfsTer25)" "" "0001035672" "00025637" "30" "1307" "8" "1307" "8" "c.1307+8C>T" "r.(=)" "p.(=)" "" "0001035673" "00025637" "50" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Leu228Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000386196" "0000813597" "0000386197" "0000813598" "0000386198" "0000813599" "0000386199" "0000813600" "0000386200" "0000813601" "0000386201" "0000813602" "0000386202" "0000813603" "0000386202" "0000813608" "0000386203" "0000813604" "0000386204" "0000813605" "0000386205" "0000813606" "0000386206" "0000813607"