### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABBR1) # 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}}" "GABBR1" "gamma-aminobutyric acid (GABA) B receptor, 1" "6" "p21.3" "unknown" "NC_000006.11" "UD_132085237230" "" "https://www.LOVD.nl/GABBR1" "" "1" "4070" "2550" "603540" "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/GABBR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-13 22:19:25" "00000" "2025-08-22 10:30:03" ## 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}}" "00008260" "GABBR1" "transcript variant 1" "002" "NM_001470.2" "" "NP_001461.1" "" "" "" "-336" "4201" "2886" "29600962" "29570005" "" "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}}" "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 = 1 "{{geneid}}" "{{diseaseid}}" "GABBR1" "05611" ## 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}}" "00417508" "" "" "" "1" "" "00006" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Ind1" "00417509" "" "" "" "1" "" "00006" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Ind2" "00417510" "" "" "" "1" "" "00006" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Ind3" "00417511" "" "" "" "1" "" "00006" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Ind4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00417508" "05611" "00417509" "05611" "00417510" "05611" "00417511" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 4 "{{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}}" "0000308988" "05611" "00417508" "00006" "Isolated (sporadic)" "2y6m" "weight P25-P50, height P50-P75, OFC P25; motor delay; speech delay/abnormalities; hypotonia; repetitive/stereotypical movements; no epilepsy; no autism spectrum disorder; no attention-deficit/hyperactivity disorder; no encopresis; no sleeping difficulties; no ocular anomalies, note sticky and intense gaze; no musculo-skeletal anomalies; no dermatological anomalies" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000308989" "05611" "00417509" "00006" "Isolated (sporadic)" "4y6m" "weight P25-P50, height P10-P25, OFC P25; motor delay; speech delay/abnormalities; hypotonia; no repetitive/stereotypical movements; epilepsy; intellectual disability; learning difficulties; no autism spectrum disorder; no attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; optic nerve hypoplasia, cortical visual disorders, intermittent nystagmus, hypermetropia; scoliosis; no dermatological anomalies" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000308990" "05611" "00417510" "00006" "Isolated (sporadic)" "13y" "weight P85, height P79, OFC P95; motor delay; speech delay/abnormalities; no hypotonia; repetitive/stereotypical movements, resolved with age; no epilepsy; intellectual disability; learning difficulties; no autism spectrum disorder; attention-deficit/hyperactivity disorder; encopresis; sleeping difficulties, resolved with age; no ocular anomalies; no musculo-skeletal anomalies; no dermatological anomalies" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000308991" "05611" "00417511" "00006" "Isolated (sporadic)" "17y" "weight P50-P75, height P10-P25, OFC P97; no motor delay; speech delay/abnormalities; no hypotonia; no repetitive/stereotypical movements; no epilepsy; no intellectual disability; no learning difficulties; autism spectrum disorder; attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; no ocular anomalies; congenital bilateral anteversion of femur; bilateral tight heel chord; knee pain; acne vulgaris, xerosis cutis, multiple melanocytic nevi, nail dystrophy" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000418801" "00417508" "1" "00006" "00006" "2022-09-18 16:53:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418802" "00417509" "1" "00006" "00006" "2022-09-18 16:53:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418803" "00417510" "1" "00006" "00006" "2022-09-18 16:53:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000418804" "00417511" "1" "00006" "00006" "2022-09-18 16:53:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 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}}" "0000878668" "0" "90" "6" "29580355" "29580355" "subst" "0" "00006" "GABBR1_000002" "g.29580355C>T" "" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "" "" "" "De novo" "" "" "0" "" "" "g.29612578C>T" "" "pathogenic (dominant)" "" "0000878669" "0" "90" "6" "29589556" "29589556" "subst" "0" "00006" "GABBR1_000004" "g.29589556C>G" "" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "" "" "" "De novo" "" "" "0" "" "" "g.29621779C>G" "" "pathogenic (dominant)" "" "0000878670" "0" "90" "6" "29589011" "29589011" "subst" "0" "00006" "GABBR1_000003" "g.29589011G>A" "" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "" "" "" "De novo" "" "" "0" "" "" "g.29621234G>A" "" "pathogenic (dominant)" "" "0000878671" "0" "90" "6" "29574970" "29574970" "subst" "0" "00006" "GABBR1_000001" "g.29574970C>T" "" "{PMID:Cediel 2022:36103875}, {DOI:Cediel 2022:10.1016/j.ajhg.2022.08.010}" "" "" "" "De novo" "" "" "0" "" "" "g.29607193C>T" "" "pathogenic (dominant)" "" "0000977137" "0" "30" "6" "29600620" "29600620" "subst" "0" "01804" "GABBR1_000005" "g.29600620C>T" "" "" "" "GABBR1(NM_001470.4):c.-1+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995625" "0" "50" "6" "29591083" "29591083" "subst" "0" "02327" "GABBR1_000006" "g.29591083G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035654" "0" "30" "6" "29572279" "29572279" "subst" "9.50727E-5" "01804" "GABBR1_000007" "g.29572279T>C" "" "" "" "GABBR1(NM_001470.4):c.2704A>G (p.(Ile902Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035655" "0" "50" "6" "29581202" "29581202" "subst" "0" "01804" "GABBR1_000008" "g.29581202C>T" "" "" "" "GABBR1(NM_001470.4):c.1384G>A (p.(Gly462Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047474" "0" "50" "6" "29574967" "29574967" "subst" "0" "03779" "GABBR1_000009" "g.29574967A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 GABBR1 ## 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}}" "0000878668" "00008260" "90" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Ala535Thr)" "" "0000878669" "00008260" "90" "1104" "0" "1104" "0" "c.1104G>C" "r.(?)" "p.(Glu368Asp)" "" "0000878670" "00008260" "90" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Ala397Val)" "" "0000878671" "00008260" "90" "2018" "0" "2018" "0" "c.2018G>A" "r.(?)" "p.(Gly673Asp)" "" "0000977137" "00008260" "30" "-1" "7" "-1" "7" "c.-1+7G>A" "r.(=)" "p.(=)" "" "0000995625" "00008260" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "" "0001035654" "00008260" "30" "2704" "0" "2704" "0" "c.2704A>G" "r.(?)" "p.(Ile902Val)" "" "0001035655" "00008260" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Gly462Arg)" "" "0001047474" "00008260" "50" "2021" "0" "2021" "0" "c.2021T>C" "r.(?)" "p.(Phe674Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000418801" "0000878668" "0000418802" "0000878669" "0000418803" "0000878670" "0000418804" "0000878671"