### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC4A10) # 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}}" "SLC4A10" "solute carrier family 4, sodium bicarbonate transporter, member 10" "2" "q24.2" "unknown" "NC_000002.11" "UD_132085281003" "" "https://www.LOVD.nl/SLC4A10" "" "1" "13811" "57282" "605556" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC4A10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-13 11:11:18" "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}}" "00024263" "SLC4A10" "transcript variant 1" "004" "NM_001178015.1" "" "NP_001171486.1" "" "" "" "-184" "5481" "3357" "162480845" "162841786" "00006" "2017-05-23 14:40:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "07142" "NEDHBA" "neurodevelopmental disorder with hypotonia and characteristic brain abnormalities" "AR" "620746" "" "" "" "00006" "2024-12-18 15:46:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC4A10" "05611" "SLC4A10" "07142" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00458533" "" "" "" "2" "" "00006" "{PMID:Fasham 2023:37459438}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier first-cousin parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Palestine" "Fam1PatIII1" "00458534" "" "" "00458533" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Palestine" "Fam1PatIII2" "00458535" "" "" "" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Austria" "" "0" "" "" "" "Fam2PatII1" "00458536" "" "" "" "2" "" "00006" "{PMID:Fasham 2023:37459438}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII2" "00458537" "" "" "00458536" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "sister" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII3" "00458538" "" "" "" "3" "" "00006" "{PMID:Fasham 2023:37459438}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrie parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam4PatIII2" "00458539" "" "" "00458538" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam4PatIII3" "00458540" "" "" "00458538" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "female double first cousin" "F" "yes" "Egypt" "" "0" "" "" "" "Fam4PatIII5" "00458541" "" "" "" "2" "" "00006" "{PMID:Fasham 2023:37459438}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5PatII1" "00458542" "" "" "00458541" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5PatII2" "00458549" "" "" "" "2" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "M" "yes" "Iraq" "" "0" "" "" "" "Fam1Pat1" "00458550" "" "" "00458549" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "brother" "F" "yes" "Iraq" "" "0" "" "" "" "Fam1Pat2" "00458551" "" "" "" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Europe" "Fam2Pat3" "00458552" "" "" "" "3" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, sister/3 brothers affected, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam3Pat4" "00458553" "" "" "00458552" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam3Pat5" "00458554" "" "" "00458552" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam3Pat6" "00458555" "" "" "" "2" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, 2affected sisters unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "Balooch" "Fam4Pat7" "00458556" "" "" "00458555" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "sister" "F" "yes" "Iran" "" "0" "" "" "Balooch" "Fam4Pat8" "00458557" "" "" "" "2" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "Balooch" "Fam5Pat9" "00458558" "" "" "00458557" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "brother" "M" "yes" "Iran" "" "0" "" "" "Balooch" "Fam5Pat10" "00458559" "" "" "" "1" "" "00006" "{PMID:Maroofian 2024:38054405}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Fam6Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00458533" "05611" "00458534" "05611" "00458535" "05611" "00458536" "05611" "00458537" "05611" "00458538" "05611" "00458539" "05611" "00458540" "05611" "00458541" "05611" "00458542" "05611" "00458549" "05611" "00458550" "05611" "00458551" "05611" "00458552" "05611" "00458553" "05611" "00458554" "05611" "00458555" "05611" "00458556" "05611" "00458557" "05611" "00458558" "05611" "00458559" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07142 ## Count = 21 "{{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}}" "0000346968" "05611" "00458533" "00006" "Familial, autosomal recessive" "08y10m" "see paper; ..., OFC 50.5cm (SD-2.3); severe intellectual disability; delayed gross motor development, >2y-walk; no speech (non-verbal); no hearing loss; anxiety; no stereotypies; hyperactivity; seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346969" "05611" "00458534" "00006" "Familial, autosomal recessive" "07y08m" "see paper; ..., OFC 48.5cm (SD-3.4); severe intellectual disability; delayed gross motor development, 5y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; inverted nipples" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346970" "05611" "00458535" "00006" "Familial, autosomal recessive" "04y08m" "see paper; ..., weight 10.7kg (SD-4.9), height 101.5cm (SD-1.3), 50cm (SD-1.7); feeding difficulties; severe intellectual disability; delayed gross motor development, rolling; speech babbles; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix, normal septum pellucidum; coxa vara anteverta, developmental dysplasia hip" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346971" "05611" "00458536" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., birth-OFC normal; weight 19.8kg (SD-1.8), height 125cm (SD-0.4), 47.5cm (SD-4.5); severe intellectual disability; delayed gross motor development, crawling; speech babbles; anxiety; stereotypies; no hyperactivity; seizures, generalized tonic-clonic seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes, clonus; ankle contractures" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346972" "05611" "00458537" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., weight 10.9kg (SD-3.5), height 100cm (SD-0.4), 44.5cm (SD-5.5); birth feeding difficulties; severe intellectual disability; delayed gross motor development, not rolling; speech sounds; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; craniosynostosis, ankle contractures" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346973" "05611" "00458538" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., birth-OFC 34.2cm (SD-0.8); weight 23kg (SD-2.3), height 123cm (SD-2.5), 45.5cm (SD-5.6); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; EEG abnormal; reduced central tone; decreased peripheral tone; normal tendon reflexes" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346974" "05611" "00458539" "00006" "Familial, autosomal recessive" "06y03m" "see paper; ..., birth-OFC 35cm (SD-0.2); weight 16kg (SD-2.5), height 104cm (SD-2.7), 46.6cm (SD-4.3); no feeding difficulties; severe intellectual disability; delayed gross motor development, 6y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346975" "05611" "00458540" "00006" "Familial, autosomal recessive" "17y05m" "see paper; ..., birth-OFC 33cm (SD-1.3); weight 45kg (SD-1.8), height 150cm (SD-2.2), 48cm (SD-5.4); feeding difficulties; severe intellectual disability; delayed gross motor development, 7y-walk; no speech (non-verbal); no hearing loss; anxiety; stereotypies; hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346976" "05611" "00458541" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., weight 30.4kg (SD-0.9), height 136cm (SD-1.2), 51.6cm (SD-1.9); feeding difficulties; moderate intellectual disability; delayed gross motor development, 2y-walk; dysarthria; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, no dysmorphic corpus callosum, no distorted configuration fornix/septum pellucidum; accessory nipple" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346977" "05611" "00458542" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., birth-OFC 50.5cm (SD−2.3); weight 17kg (SD-1.7), height 111cm (SD-1.0), 46.7cm (SD-4.2); feeding difficulties; severe intellectual disability; delayed gross motor development, 3y-walk; no speech (non-verbal); no hearing loss; anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "0000346980" "05611" "00458549" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., pregnancy unremarkable, birth at term, weight 3.8kg (96th), microcephalicy; height 136.5 (98th), weight 23.7kg (75th), 0FC 48.5cm (-1.9); no failure to thrive; mild global developmental delay, mild intellectual disability; no developmental regression; 1.6y-walk; delayed speech, many words, speaks in simple sentences, understands simple commands; normal vision, no hearing loss; dysmorphic features, synophrys, prominent ears; central tone mild hypotonia; peripheral tone no hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autistic features, attentional problems; MRI 8y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, large interthalamic mass, small \"slit-like\" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules gray matter heterotopia extending from the occipital horns to overlying cortex" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346981" "05611" "00458550" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., pregnancy unremarkable, birth at term, weight 3.5kg (83th%), microcephaly; height 129.6cm (75th), weight 44kg (98th), OFC 49.5cm (-1.3); no failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; 2.7y-walk; delayed speech, individual words, no sentences; strabismus, no hearing loss; dysmorphic features, synophrys, prominent lashes, low anterior hair line, retrognathia, left-sided preauricular tag; central tone hypotonia; peripheral tone hypotonia; normal deep tendon reflexes; no seizures; disconjugate gaze; autism, attentional and behavioral difficulties; MRI 9y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small \"slit-like\" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346982" "05611" "00458551" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., buchal cord, respiratory distress; birth at term, birth-36w, weight 2.2kg (Z=2.24), OFC 30cm (Z=-3.42, microcephaly); OFC 30cm (below 3rd); failure to thrive; severe global developmental delay, severe intellectual disability; developmental regression; crawl, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, long eyelashes, large ears, broad nasal bridge, upturned nares; central tone hypotonia; reduced peripheral tone; normal to diminished deep tendon reflexes; seizures, epileptic encephalopathy; dysphagia requiring G-tube placement, constipation; anxiety; MRI 1.5y/4y-dysplastic short corpus callosum, small septum pellucidum whit short fornices, small \"slit-like\" frontal horns, bilateral incomplete hippocampal rotation, bilateral multiple small nodules of gray matter heterotopia extending from the occipital horns to overlying cortex; EEG subclinical seizure activity, hypsarrhythmia pattern" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346983" "05611" "00458552" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (83th); height 170cm (85th), weight 55kg (36th), OFC 56cm (94th); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, Marfanoid elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; happy demeanor" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346984" "05611" "00458553" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., pregnancy unremarkable, birth-39w, weight 4.95kg (99th); height 162cm (12th), weight 60kg (52nd), OFC 57cm (91st); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 10y-walk, self-feeding, can not hold light things; delayed speech, babbling; vision disturbed at night, no hearing loss; dysmorphic features, Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone moderate hypotonia; no muscle atrophy; normal plantar response; no seizures; mute; MRI 1.6y-bilateral incomplete hippocampal rotation" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346985" "05611" "00458554" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (80th); height 182cm (78th), weight 62kg (20th), OFC 55cm (below 3rd); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; mute" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346986" "05611" "00458555" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., pregnancy unremarkable, birth-34w, weight 2kg (26th), OFC 33cm (25th); height 118cm (50th), weight 21kg (9-25th), OFC 47.5cm (below 10th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; mild speech delay, 1.5y-first speech; dysarthria; normal vision, no hearing loss; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; no behavioral characteristics; CT scan small right frontal horn; MR NAD" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346987" "05611" "00458556" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., pregnancy unremarkable, birth-40w, weight 2.26kg (4th), OFC 34cm (50th); height 97cm (2nd), weight 15kg (2nd), OFC 47cm (-2, below 15th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; 1.5y-first speech, 3 words sentences; normal vision, no hearing loss; dysarthria; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; sudden attack unawareness for 24h, in PICU 48h; no Bruxism, tempered tantrum, aggressiveness, no stereotypy; MRI 1m/1y5m-bilateral incomplete hippocampal rotation, thin corpus callosum, slightly delayed myelination, choroidal plexus cysts left lateral ventricle/right temporal horn" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346988" "05611" "00458557" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., birth at term, weight 2.5kg (below the 5th), OFC 34cm (50th); height 48cm, weight 9kg (0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; roll, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, limb dystonic athetosis; selective diet, only cereals; poor communication, poor eye contact, agitation" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346989" "05611" "00458558" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., birth at term, weight 2.7kg (17th), OFC 34cm (50th); height 49cm, weight 13kg (below 0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; crawl, not walking; delayed speech, 5 words; normal vision, no hearing loss; dysarthria; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, temper (tantrum), axial dystonia; stereotypy, agitation, tempered tantrum, poor communication, no eye contact; MRI 7m-bilateral incomplete hippocampal rotation, white matter volume reduction with posterior lateral ventricles dilatation but small frontal horns (especially left), thin corpus callosum, slightly delayed myelination, left cerebellar arachnoid cyst, enlarged fronto-temporal cerebrospinal fluid spaces" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" "0000346990" "05611" "00458559" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., birth at term; severe global developmental delay, severe intellectual disability; delayed speech; central tone hypotonia; peripheral tone hypotonia; seizures; choreiform movements; MRI bilateral incomplete hippocampal rotation, thinningcorpus callosum" "" "" "" "" "" "" "NEDHBA" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000460155" "00458533" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000460156" "00458534" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000460157" "00458535" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000460158" "00458536" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000460159" "00458537" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000460160" "00458538" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460161" "00458539" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460162" "00458540" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460163" "00458541" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000460164" "00458542" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000460170" "00458549" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000460171" "00458550" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000460172" "00458551" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000460173" "00458552" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460174" "00458553" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460175" "00458554" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460176" "00458555" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460177" "00458556" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460178" "00458557" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460179" "00458558" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460180" "00458559" "1" "00006" "00006" "2024-12-18 16:32:47" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" ## 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 = 31 "{{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}}" "0000337314" "0" "50" "2" "162565341" "162565341" "subst" "7.92418E-5" "02327" "SLC4A10_000001" "g.162565341T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161708831T>C" "" "VUS" "" "0000509743" "0" "50" "2" "162761398" "162761398" "subst" "0" "01943" "SLC4A10_000002" "g.162761398A>T" "" "" "" "SLC4A10(NM_001178016.1):c.1673A>T (p.K558M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161904888A>T" "" "VUS" "" "0000509744" "0" "50" "2" "162833350" "162833350" "subst" "0" "01943" "SLC4A10_000003" "g.162833350A>T" "" "" "" "SLC4A10(NM_001178016.1):c.3251A>T (p.N1084I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161976840A>T" "" "VUS" "" "0000717911" "0" "30" "2" "162807228" "162807228" "subst" "0" "01943" "SLC4A10_000004" "g.162807228C>A" "" "" "" "SLC4A10(NM_001354461.1):c.2447C>A (p.T816K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974383" "0" "50" "2" "162762161" "162762161" "subst" "0.000222755" "01804" "SLC4A10_000005" "g.162762161G>A" "" "" "" "SLC4A10(NM_001178015.2):c.1761G>A (p.(Gly587=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001019130" "3" "90" "2" "162702619" "162752502" "del" "0" "00006" "SLC4A10_000006" "g.162702619_162752502del" "" "{PMID:Fasham 2023:37459438}" "" "del ex5-11" "" "Germline" "" "" "0" "" "" "g.161846109_161895992del" "" "pathogenic (recessive)" "" "0001019131" "3" "90" "2" "162702619" "162752502" "del" "0" "00006" "SLC4A10_000006" "g.162702619_162752502del" "" "{PMID:Fasham 2023:37459438}" "" "del ex5-11" "" "Germline" "" "" "0" "" "" "g.161846109_161895992del" "" "pathogenic (recessive)" "" "0001019132" "3" "90" "2" "162805661" "162805661" "subst" "0" "00006" "SLC4A10_000013" "g.162805661C>T" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161949151C>T" "" "pathogenic (recessive)" "" "0001019133" "3" "90" "2" "162820643" "162820643" "subst" "0" "00006" "SLC4A10_000015" "g.162820643A>C" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161964133A>C" "" "pathogenic (recessive)" "" "0001019134" "3" "90" "2" "162820643" "162820643" "subst" "0" "00006" "SLC4A10_000015" "g.162820643A>C" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161964133A>C" "" "pathogenic (recessive)" "" "0001019135" "3" "90" "2" "162813576" "162813576" "subst" "0" "00006" "SLC4A10_000014" "g.162813576G>A" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161957066G>A" "" "pathogenic (recessive)" "" "0001019136" "3" "90" "2" "162813576" "162813576" "subst" "0" "00006" "SLC4A10_000014" "g.162813576G>A" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161957066G>A" "" "pathogenic (recessive)" "" "0001019137" "3" "90" "2" "162813576" "162813576" "subst" "0" "00006" "SLC4A10_000014" "g.162813576G>A" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.161957066G>A" "" "pathogenic (recessive)" "" "0001019138" "3" "70" "2" "162761398" "162761398" "subst" "0" "00006" "SLC4A10_000002" "g.162761398A>T" "" "{PMID:Fasham 2023:37459438}" "" "[1730A>T;3308A>T]" "" "Germline" "" "" "0" "" "" "g.161904888A>T" "" "likely pathogenic (recessive)" "" "0001019139" "3" "70" "2" "162761398" "162761398" "subst" "0" "00006" "SLC4A10_000002" "g.162761398A>T" "" "{PMID:Fasham 2023:37459438}" "" "[1730A>T;3308A>T]" "" "Germline" "" "" "0" "" "" "g.161904888A>T" "" "likely pathogenic (recessive)" "" "0001019140" "3" "50" "2" "162833350" "162833350" "subst" "0" "00006" "SLC4A10_000003" "g.162833350A>T" "" "{PMID:Fasham 2023:37459438}" "" "[1730A>T;3308A>T]" "" "Germline" "" "" "0" "" "" "g.161976840A>T" "" "VUS" "" "0001019141" "3" "50" "2" "162833350" "162833350" "subst" "0" "00006" "SLC4A10_000003" "g.162833350A>T" "" "{PMID:Fasham 2023:37459438}" "" "[1730A>T;3308A>T]" "" "Germline" "" "" "0" "" "" "g.161976840A>T" "" "VUS" "" "0001019161" "3" "70" "2" "162820676" "162820676" "subst" "0" "00006" "SLC4A10_000016" "g.162820676C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161964166C>T" "" "likely pathogenic (recessive)" "" "0001019162" "3" "70" "2" "162820676" "162820676" "subst" "0" "00006" "SLC4A10_000016" "g.162820676C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161964166C>T" "" "likely pathogenic (recessive)" "" "0001019163" "21" "70" "2" "162762264" "162762264" "subst" "0" "00006" "SLC4A10_000010" "g.162762264C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP2, PP3, PM2, PS3" "Germline" "" "rs370148354" "0" "" "" "g.161905754C>T" "" "likely pathogenic (recessive)" "" "0001019164" "3" "70" "2" "162804134" "162804134" "subst" "0" "00006" "SLC4A10_000012" "g.162804134A>G" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161947624A>G" "" "likely pathogenic (recessive)" "" "0001019165" "3" "70" "2" "162804134" "162804134" "subst" "0" "00006" "SLC4A10_000012" "g.162804134A>G" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161947624A>G" "" "likely pathogenic (recessive)" "" "0001019166" "3" "70" "2" "162804134" "162804134" "subst" "0" "00006" "SLC4A10_000012" "g.162804134A>G" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161947624A>G" "" "likely pathogenic (recessive)" "" "0001019167" "3" "70" "2" "162719473" "162719473" "subst" "0" "00006" "SLC4A10_000007" "g.162719473C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161862963C>T" "" "likely pathogenic (recessive)" "" "0001019168" "3" "70" "2" "162719473" "162719473" "subst" "0" "00006" "SLC4A10_000007" "g.162719473C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP1, PP2, PP3, PM2, PS3" "Germline" "" "" "0" "" "" "g.161862963C>T" "" "likely pathogenic (recessive)" "" "0001019169" "3" "90" "2" "162565341" "162565341" "subst" "7.92418E-5" "00006" "SLC4A10_000001" "g.162565341T>C" "" "{PMID:Maroofian 2024:38054405}" "" "NM_001178016.1:c.81+2T>C r.(82_163del)" "ACMG PP1, PM2,PVS1, PS3; effect on splicing predicted from mini-gene splicing assay" "Germline" "" "rs533392244" "0" "" "" "g.161708831T>C" "" "pathogenic (recessive)" "" "0001019170" "3" "90" "2" "162565341" "162565341" "subst" "7.92418E-5" "00006" "SLC4A10_000001" "g.162565341T>C" "" "{PMID:Maroofian 2024:38054405}" "" "NM_001178016.1:c.81+2T>C r.(82_163del)" "ACMG PP1, PM2,PVS1, PS3; effect on splicing predicted from mini-gene splicing assay" "Germline" "" "rs533392244" "0" "" "" "g.161708831T>C" "" "pathogenic (recessive)" "" "0001019171" "21" "50" "2" "162804090" "162804090" "subst" "5.76507E-5" "00006" "SLC4A10_000011" "g.162804090G>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP2, PM2" "Germline" "" "rs369971543" "0" "" "" "g.161947580G>T" "" "VUS" "" "0001019172" "10" "90" "2" "162735744" "162735744" "subst" "0" "00006" "SLC4A10_000008" "g.162735744G>C" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP2, PP3, PS2, PM2, PS3" "De novo" "" "" "0" "" "" "g.161879234G>C" "" "pathogenic (recessive)" "" "0001019173" "11" "50" "2" "162760683" "162760683" "subst" "0" "00006" "SLC4A10_000009" "g.162760683C>T" "" "{PMID:Maroofian 2024:38054405}" "" "" "ACMG PP2, PP3, PM2" "Germline" "" "rs751709773" "0" "" "" "g.161904173C>T" "" "VUS" "" "0001032449" "0" "50" "2" "162728804" "162728804" "subst" "3.65886E-5" "01804" "SLC4A10_000017" "g.162728804A>G" "" "" "" "SLC4A10(NM_001354444.2):c.767-2A>G" "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 SLC4A10 ## Count = 31 "{{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}}" "0000337314" "00024263" "50" "49" "-62142" "49" "-62142" "c.49-62142T>C" "r.(=)" "p.(=)" "" "0000509743" "00024263" "50" "1730" "0" "1730" "0" "c.1730A>T" "r.(?)" "p.(Lys577Met)" "" "0000509744" "00024263" "50" "3308" "0" "3308" "0" "c.3308A>T" "r.(?)" "p.(Asn1103Ile)" "" "0000717911" "00024263" "30" "2411" "0" "2411" "0" "c.2411C>A" "r.(?)" "p.(Thr804Lys)" "" "0000974383" "00024263" "50" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(=)" "" "0001019130" "00024263" "90" "416" "6182" "1341" "1167" "c.416+6182_1341+1167del" "r.(417_1341del)" "p.(Trp140ArgfsTer39)" "4i_11i" "0001019131" "00024263" "90" "416" "6182" "1341" "1167" "c.416+6182_1341+1167del" "r.(417_1341del)" "p.(Trp140ArgfsTer39)" "4i_11i" "0001019132" "00024263" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Arg757Ter)" "" "0001019133" "00024263" "90" "2863" "-2" "2863" "-2" "c.2863-2A>C" "r.[2772_2773ins2772+1_2772+175;2773_2781del]" "p.Gln954_Phe955insTer13" "" "0001019134" "00024263" "90" "2863" "-2" "2863" "-2" "c.2863-2A>C" "r.[2772_2773ins2772+1_2772+175;2773_2781del]" "p.Gln954_Phe955insTer13" "" "0001019135" "00024263" "90" "2619" "0" "2619" "0" "c.2619G>A" "r.(?)" "p.(Trp873Ter)" "" "0001019136" "00024263" "90" "2619" "0" "2619" "0" "c.2619G>A" "r.(?)" "p.(Trp873Ter)" "" "0001019137" "00024263" "90" "2619" "0" "2619" "0" "c.2619G>A" "r.(?)" "p.(Trp873Ter)" "" "0001019138" "00024263" "70" "1730" "0" "1730" "0" "c.1730A>T" "r.(?)" "p.(Lys577Met)" "" "0001019139" "00024263" "70" "1730" "0" "1730" "0" "c.1730A>T" "r.(?)" "p.(Lys577Met)" "" "0001019140" "00024263" "50" "3308" "0" "3308" "0" "c.3308A>T" "r.(?)" "p.(Asn1103Ile)" "" "0001019141" "00024263" "50" "3308" "0" "3308" "0" "c.3308A>T" "r.(?)" "p.(Asn1103Ile)" "" "0001019161" "00024263" "70" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Pro965Leu)" "" "0001019162" "00024263" "70" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Pro965Leu)" "" "0001019163" "00024263" "70" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622Trp)" "" "0001019164" "00024263" "70" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(Tyr721Cys)" "" "0001019165" "00024263" "70" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(Tyr721Cys)" "" "0001019166" "00024263" "70" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(Tyr721Cys)" "" "0001019167" "00024263" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(His223Tyr)" "" "0001019168" "00024263" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(His223Tyr)" "" "0001019169" "00024263" "90" "49" "-62142" "49" "-62142" "c.49-62142T>C" "r.?" "p.?" "" "0001019170" "00024263" "90" "49" "-62142" "49" "-62142" "c.49-62142T>C" "r.?" "p.?" "" "0001019171" "00024263" "50" "2118" "0" "2118" "0" "c.2118G>T" "r.(?)" "p.(Leu706Phe)" "" "0001019172" "00024263" "90" "1052" "0" "1052" "0" "c.1052G>C" "r.(?)" "p.(Arg351Thr)" "" "0001019173" "00024263" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "" "0001032449" "00024263" "50" "768" "0" "768" "0" "c.768A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000460155" "0001019130" "0000460156" "0001019131" "0000460157" "0001019132" "0000460158" "0001019133" "0000460159" "0001019134" "0000460160" "0001019135" "0000460161" "0001019136" "0000460162" "0001019137" "0000460163" "0001019138" "0000460163" "0001019140" "0000460164" "0001019139" "0000460164" "0001019141" "0000460170" "0001019161" "0000460171" "0001019162" "0000460172" "0001019163" "0000460172" "0001019172" "0000460173" "0001019164" "0000460174" "0001019165" "0000460175" "0001019166" "0000460176" "0001019167" "0000460177" "0001019168" "0000460178" "0001019169" "0000460179" "0001019170" "0000460180" "0001019171" "0000460180" "0001019173"