### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C2orf69) # 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}}" "C2orf69" "chromosome 2 open reading frame 69" "2" "q33.1" "unknown" "NC_000002.11" "UD_136085879758" "" "https://www.LOVD.nl/C2orf69" "" "1" "26799" "205327" "619219" "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/C2orf69_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-11 21:56:08" "00000" "2023-11-27 17:35:39" ## 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}}" "00003688" "C2orf69" "chromosome 2 open reading frame 69" "001" "NM_153689.5" "" "NP_710156.3" "" "" "" "-183" "3545" "1158" "200775979" "200792996" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00375580" "" "" "" "2" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "18m" "0" "" "" "" "Fam1PatII1" "00375581" "" "" "00375580" "1" "" "00006" "{PMID:Wong 2021:34038740}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII2" "00375582" "" "" "" "1" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Tunisia" "32m" "0" "" "" "" "Fam2PatII1" "00375583" "" "" "" "4" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII1" "00375584" "" "" "00375583" "1" "" "00006" "{PMID:Wong 2021:34038740}" "cousin" "M" "yes" "Saudi Arabia" "18m" "0" "" "" "" "Fam3PatII2" "00375585" "" "" "00375583" "1" "" "00006" "{PMID:Wong 2021:34038740}" "cousin" "F" "yes" "Saudi Arabia" "24m" "0" "" "" "" "Fam3PatII3" "00375586" "" "" "" "2" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Iran" "29m" "0" "" "" "" "Fam4PatII1" "00375587" "" "" "00375586" "1" "" "00006" "{PMID:Wong 2021:34038740}" "brother" "M" "yes" "Iran" "11m" "0" "" "" "" "Fam4PatII2" "00375588" "" "" "" "1" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "9m" "0" "" "" "" "Fam5PatII1" "00375589" "" "" "" "3" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F" "" "Syria" "9m" "0" "" "" "" "Fam6PatII6" "00375590" "" "" "" "6" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents" "F" "yes" "Iraq" "" "0" "" "" "" "Fam7PatII7" "00375591" "" "" "" "1" "" "00006" "{PMID:Wong 2021:34038740}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "12m" "0" "" "" "" "Fam8PatII3" "00375599" "" "" "" "1" "" "00006" "{PMID:Lausberg 2021:33945503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Syria" "2y10m" "0" "" "" "Kurd" "Fam1PatI" "00375600" "" "" "" "1" "" "00006" "{PMID:Lausberg 2021:33945503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iraq" "" "0" "" "" "Kurd" "Fam2PatII" "00375601" "" "" "" "2" "" "00006" "{PMID:Lausberg 2021:33945503}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Germany" "8y11m" "0" "" "" "" "Fam3PatIII" "00375602" "" "" "00375601" "1" "" "00006" "{PMID:Lausberg 2021:33945503}" "brother" "M" "" "Germany" "" "0" "" "" "" "Fam3PatIV" "00375603" "" "" "" "2" "" "00006" "{PMID:Lausberg 2021:33945503}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Turkey" "4y" "0" "" "" "" "Fam4PatV" "00375604" "" "" "00375603" "1" "" "00006" "{PMID:Lausberg 2021:33945503}" "brother" "M" "" "Turkey" "4y" "0" "" "" "" "Fam4PatVI" "00375605" "" "" "" "2" "" "00006" "{PMID:Lausberg 2021:33945503}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "Pakistan" "" "0" "" "" "" "Fam5PatVII" "00375606" "" "" "00375605" "1" "" "00006" "{PMID:Lausberg 2021:33945503}" "sister" "F" "" "Pakistan" "" "0" "" "" "" "Fam5PatVIII" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00375580" "00198" "00375581" "00198" "00375582" "00198" "00375583" "00198" "00375584" "00198" "00375585" "00198" "00375586" "00198" "00375587" "00198" "00375588" "00198" "00375589" "00198" "00375590" "00198" "00375591" "00198" "00375599" "00198" "00375600" "00198" "00375601" "00198" "00375602" "00198" "00375603" "00198" "00375604" "00198" "00375605" "00198" "00375606" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000270794" "00198" "00375580" "00006" "Familial, autosomal recessive" "12m" "birth OFC normal, weight 3.75kg, length normal; OFC 39cm (−5 SD), weight 4.9kg (−5.3 SD), length 68cm (−2.7 SD); 18m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); aseptic osteomyelitis (HP:0002754) (tibia, elbow, hip); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); no muscular spasticity (-HP:0001257); hepatomegaly (HP:0002240)" "3m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270795" "00198" "00375581" "00006" "Familial, autosomal recessive" "6m" "birth weight 2.3kg, length 45cm; OFC 39cm (−3.1 SD), weight 4.3kg (−4.3 SD), length 58cm (−3.7 SD); alive (in critical condition); developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); no muscular spasticity (-HP:0001257); hepatomegaly (HP:0002240)" "3m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270796" "00198" "00375582" "00006" "Familial, autosomal recessive" "18m" "birth OFC 35cm, weight 3.1kg, length 50cm; OFC 39.5cm (−6 SD), weight 6.5kg (−3 SD), length 85cm; 32m-died from status epilepticus; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); no dysgenesis of corpus callosum (-HP:0006989); no CNS hypomyelition (-HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal, pharmacoresistant); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240)" "1d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270797" "00198" "00375583" "00006" "Familial, autosomal recessive" "" "deceased; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); seizures (HP:0001250) (intractable)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270798" "00198" "00375584" "00006" "Familial, autosomal recessive" "" "18m-died; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); seizures (HP:0001250); muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270799" "00198" "00375585" "00006" "Familial, autosomal recessive" "6m" "birth weight 2.12kg; OFC 36cm (−6 SD), weight 4.6kg, length 53cm; 24m-died; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); seizures (HP:0001250) (focal); muscular hypotonia (HP:0001252)" "1d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270800" "00198" "00375586" "00006" "Familial, autosomal recessive" "24m" "birth OFC normal, 3.5kg, length 52cm; ; 29m-died from pneumonia; developmental delay (HP:0001263); failure to thrive (HP:0001508); dysgenesis of corpus callosum (HP:0006989); seizures (HP:0001250) (absent seizures, several episodes); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369); eptic arthritis (HP:0003095); aseptic osteomyelitis (HP:0002754) (elbows, hip, clavicle); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); no muscular hypotonia (-HP:0001252); general muscle wasting (HP:0009055); abdomil distention (HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240)" "3m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270801" "00198" "00375587" "00006" "Familial, autosomal recessive" "" "birth OFC normal, weight 3.7kg, length 50cm; ; 11m-died from pneumonia; developmental delay (HP:0001263); dysgenesis of corpus callosum (HP:0006989); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369); eptic arthritis (HP:0003095); no muscular hypotonia (-HP:0001252); abdomil distention (HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240)" "4m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270802" "00198" "00375588" "00006" "Familial, autosomal recessive" "6m" "birth OFC 33cm (−0.6 SD), weight 3.0kg, length 49cm; OFC 37cm (−3.5 SD), weight 4.7kg (−3.25 SD), length 59cm (−3.4 SD); 9m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (myoclonic, several times a day); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); hypochromic microcytic anemia (HP:0004840); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no hepatomegaly (-HP:0002240)" "2m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270803" "00198" "00375589" "00006" "Familial, autosomal recessive" "6m" "birth OFC normal, weight 3.5kg, length normal; weight 2.5kg (−5 SD); 9m-died from cardiac arrest; developmental delay (HP:0001263); no secondary microcephaly (-HP:0005484); failure to thrive (HP:0001508); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (tonic); no recurrent fever (-HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); muscular spasticity (HP:0001257); no hepatomegaly (-HP:0002240)" "4m" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270804" "00198" "00375590" "00006" "Familial, autosomal recessive" "6m" "birth weight 3.5kg; ; alive (in critical condition); developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); dysgenesis of corpus callosum (HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (focal and myoclonic); recurrent fever (HP:0001954); no inflammatory arthritis (-HP:0001369); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); no elevated c-reactive protein level (-HP:0011227); muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270)" "<0d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270805" "00198" "00375591" "00006" "Familial, autosomal recessive" "7m" "birth OFC 35cm (−0.4 SD), weight 3.1kg, length 49cm; OFC 37cm (−5.5 SD), weight 5.8kg (−3 SD), length 60cm (−3.5 SD); 12m-died from pneumonia; developmental delay (HP:0001263); secondary microcephaly (HP:0005484); failure to thrive (HP:0001508); post-natal short stature (HP:0004322); no dysgenesis of corpus callosum (-HP:0006989); CNS hypomyelition (HP:0003429); cerebral atrophy (HP:0002059); seizures (HP:0001250) (intractable, focal); recurrent fever (HP:0001954); inflammatory arthritis (HP:0001369) (knee, once); no eptic arthritis (-HP:0003095); no aseptic osteomyelitis (-HP:0002754); elevated c-reactive protein level (HP:0011227); anemia due to congenital dyserythropoietic anemia; muscular hypotonia (HP:0001252); general muscle wasting (HP:0009055); no abdomil distention (-HP:0003270); no muscular spasticity (-HP:0001257); no hepatomegaly (-HP:0002240)" "<0d" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000270813" "00198" "00375599" "00006" "Familial, autosomal recessive" "2y10m" "2y10m-died from thromboembolic multiorgan failure; uncomplicated pregnancy; birth normal measurements, OFC 33cm, weight 2830g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebellar hypoplasia/Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, thin corpus callosum, hypomyelinisation, basilar impression, progressive atrophy in follow-up after 17 months; febrile seizures, generalized epilepsy; impaired visual fixation/reaction, strabism; mildly elevated transaminases and LDH; pericard effusion, biventricular hypertrophy; dispersed areas of PAS-positive plaques in cardiomyocytes, hepatocytes, macrophages; deposits remained after PAS diastase stain; inflammatory arthritis elbows, hip, thrombocytosis, elevated number of monocytes and leukocytes, elevated CRP; hyperthyreosis, PEG; lactate max 5.0 mmol/l, usually not elevated (1-2 mmol/l)" "1d" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270814" "00198" "00375600" "00006" "Familial, autosomal recessive" "3y7m" "alive; uncomplicated pregnancy; birth in Iraq; muscular hypotonia; developmental delay; dystrophy; no postnatal short stature; progredient microcephaly; frontal cerebral volume reduction, thin corpus callosum; epilepsy; impaired fixation/reaction; elevated transaminases; no cardiac anomalies; Herpes-encephalitis; inflammatory arthritis hip, elbow; recurring fever episodes with high MRP (Myeloid-related proteins) and clinical inflammation; satisfactory response to steroids, very good clinical response to Anakinra (IL-1 blockade); constantly elevated CRP, thrombocytosis, massively elevated calgranulins (S100 A8/A9: 48.000 ng/ml max; after Anakinra: 7960 ng/ml); elevated lactate" "56d" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270815" "00198" "00375601" "00006" "Familial, autosomal recessive" "8y11m" "8y11m-died from multiorgan failure; polyhydramnion; birth normal measurements, OFC 36cm, weight 3370g, length 52cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature (3rd percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, left frontal porencephalic defect, thin corpus callosum, elevated lactate values and lactate peak in MR spectroscopy; no seizures; strabism; hepatomegaly, elevated transaminases; liver: macrophages and hepatocytes with PAS+ inclusions, glycogen deposits; decreased branching enzyme activity; no cardiac anomalies; recurring bronchitis and pneumonia; inflammatory arthritis left hip; spontaneous femur fracture, flexion contractures in elbows, knees and toes, PEG, splenomegaly; muscle PAS+ material, polyglucosan bodies, mitochondrial alterations" "6m" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270816" "00198" "00375602" "00006" "Familial, autosomal recessive" "1y3m" "alive; uncomplicated pregnancy; birth normal measurements, OFC 37cm, weight 4250g, length 57cm; muscular hypotonia; developmental delay; no dystrophy; postnatal short stature (3rd-10th percentile); progredient microcephaly; Dandy Walker variant, optic hypoplasia, frontotemporal atrophy, hypomyelination, thin corpus callosum; no seizures; no eye anomalies; elevated transaminases; no cardiac anomalies; no inflammatory arthritis; muscle hypertonia" "4m" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270817" "00198" "00375603" "00006" "Familial, autosomal recessive" "4y" "4y-died from seizures and cardiomyopathy; uncomplicated pregnancy, neonatal onset (tibial aseptic asteomyelitis); birth normal measurements, OFC 33.7cm, weight 2980g, length 51.5cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; cerebral atrophy; epilepsy; no eye anomalies; hepatomegaly, elevated transaminases and LDH; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion); enzymatic activity of glycogen branching enzyme in the liver not detected; dilated cardiomyopathy, left ventricular dysfunction; episodes of aseptic osteomyelitis: tibia, elbow, hip; skull (fronto-parietal empyema?) elevated CRP" "<0d" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270818" "00198" "00375604" "00006" "Familial, autosomal recessive" "4y" "4y-died from infectious illness; uncomplicated pregnancy; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; thin corpus callosum, cerebral atrophy, left ventricular dilatation; epilepsy; strabism; hepatomegaly; liver: inclusions in dilated hepatocytes (PAS and PAS+ after amylase digestion), cirrhotic involution; first diagnosis: enzymatic activity of glycogen branching enzyme in the liver not detected; no cardiac anomalies; recurrent infectious illness, elevated CRP; severe osteopenia" "6m" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270819" "00198" "00375605" "00006" "Familial, autosomal recessive" "3y9m" "alive; uncomplicated pregnancy, mother had two infections prescribed antibiotics; birth normal measurements, OFC 34.5cm, weight 3394g, length 53cm; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, delayed myelination, thin corpus callosum; reduced N-acetyl-aspartate, no lactate peak in MR spectroscopy; epilepsy; exotropia, myopia; elevated ALT and markedly elevated GGT; ECG showed normal sinus rhythm, with sinus pause and junctional escape rhythm; ECHO showed normal cardiac anatomy and function with an LVED of 2.8; bilateral hip effusions, recurrent respiratory tract infections and aspiration pneumonia, CP; osteopenia, right hip dislocation , chronic pain, right gluteal abscess, G-tube feedings, delayed gastric emptying; lactate 3.7 mmol/l" "3m" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" "0000270820" "00198" "00375606" "00006" "Familial, autosomal recessive" "2y2m" "alive; maternal anemia, nausea, vomiting, maternal hypothyroidism, slow weight gain in the last trimester; birth normal measurements, OFC 32cm, weight 2600g; muscular hypotonia; developmental delay; dystrophy; postnatal short stature; progredient microcephaly; Dandy Walker variant, frontotemporal atrophy, hypomyelination, thin corpus callosum, vermian hypoplasia, microcephaly, pontine hypoplasia; no seizures, EEG shows susceptibility to seizures; initial concerns with inattentiveness, intermittent exotropia, cortical visual impairment; liver normal; no cardiac anomalies; bilateral hip effusions, episode of right sided pneumonia with pleural effusion; G-tube feedings; lactate 2.0 mmol/l" "3m" "" "" "" "" "" "" "" "" "multisystem disorder, recurring autoinflammation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000376777" "00375580" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376778" "00375581" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376779" "00375582" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376780" "00375583" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376781" "00375584" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376782" "00375585" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376783" "00375586" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376784" "00375587" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376785" "00375588" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376786" "00375589" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376787" "00375590" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376788" "00375591" "1" "00006" "00006" "2021-06-11 23:06:52" "" "" "SEQ-NG" "DNA" "" "" "0000376796" "00375599" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376797" "00375600" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376798" "00375601" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376799" "00375602" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376800" "00375603" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376801" "00375604" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376802" "00375605" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000376803" "00375606" "1" "00006" "00006" "2021-06-12 22:50:35" "" "" "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 = 22 "{{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}}" "0000788830" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Wong 2021:34038740}" "" "298delC" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788831" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Wong 2021:34038740}" "" "298delC" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788832" "3" "90" "2" "200776441" "200776441" "del" "0" "00006" "C2orf69_000001" "g.200776441del" "" "{PMID:Wong 2021:34038740}" "" "280delG" "" "Germline" "" "" "0" "" "" "g.199911718del" "" "pathogenic (recessive)" "" "0000788833" "3" "90" "2" "200790039" "200790043" "del" "0" "00006" "C2orf69_000004" "g.200790039_200790043del" "" "{PMID:Wong 2021:34038740}" "" "588_592delTTTAA" "" "Germline" "" "" "0" "" "" "g.199925316_199925320del" "" "pathogenic (recessive)" "" "0000788834" "3" "90" "2" "200790039" "200790043" "del" "0" "00006" "C2orf69_000004" "g.200790039_200790043del" "" "{PMID:Wong 2021:34038740}" "" "588_592delTTTAA" "" "Germline" "" "" "0" "" "" "g.199925316_199925320del" "" "pathogenic (recessive)" "" "0000788835" "3" "90" "2" "200790039" "200790043" "del" "0" "00006" "C2orf69_000004" "g.200790039_200790043del" "" "{PMID:Wong 2021:34038740}" "" "588_592delTTTAA" "" "Germline" "" "" "0" "" "" "g.199925316_199925320del" "" "pathogenic (recessive)" "" "0000788836" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Wong 2021:34038740}" "" "298delC" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788837" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Wong 2021:34038740}" "" "298delC" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788838" "3" "70" "2" "200776472" "200776474" "del" "0" "00006" "C2orf69_000003" "g.200776472_200776474del" "" "{PMID:Wong 2021:34038740}" "" "" "" "Germline" "" "" "0" "" "" "g.199911749_199911751del" "" "pathogenic (recessive)" "" "0000788839" "3" "90" "2" "200790360" "200790376" "del" "0" "00006" "C2orf69_000006" "g.200790360_200790376del" "" "{PMID:Wong 2021:34038740}" "" "" "" "Germline" "" "" "0" "" "" "g.199925637_199925653del" "" "pathogenic (recessive)" "" "0000788840" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Wong 2021:34038740}" "" "298delC" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788841" "3" "70" "2" "200790380" "200790380" "subst" "0" "00006" "C2orf69_000007" "g.200790380G>A" "" "{PMID:Wong 2021:34038740}" "" "" "" "Germline" "" "" "0" "" "" "g.199925657G>A" "" "likely pathogenic (recessive)" "" "0000788849" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788850" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788851" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788852" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788853" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788854" "3" "90" "2" "200776459" "200776459" "del" "0" "00006" "C2orf69_000002" "g.200776459del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199911736del" "" "pathogenic (recessive)" "" "0000788855" "3" "90" "2" "200790294" "200790298" "del" "0" "00006" "C2orf69_000005" "g.200790294_200790298del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199925571_199925575del" "" "pathogenic (recessive)" "" "0000788856" "3" "90" "2" "200790294" "200790298" "del" "0" "00006" "C2orf69_000005" "g.200790294_200790298del" "" "{PMID:Lausberg 2021:33945503}" "" "" "" "Germline" "" "" "0" "" "" "g.199925571_199925575del" "" "pathogenic (recessive)" "" "0000947675" "0" "30" "2" "200776336" "200776336" "subst" "1.43141E-5" "02326" "C2orf69_000008" "g.200776336A>C" "" "" "" "C2orf69(NM_153689.6):c.175A>C (p.T59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947676" "0" "30" "2" "200790450" "200790450" "subst" "9.75396E-5" "02326" "C2orf47_000001" "g.200790450T>C" "" "" "" "C2orf69(NM_153689.6):c.999T>C (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 C2orf69 ## Count = 22 "{{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}}" "0000788830" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788831" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788832" "00003688" "90" "280" "0" "280" "0" "c.280del" "r.(?)" "p.(Glu94SerfsTer24)" "" "0000788833" "00003688" "90" "588" "0" "592" "0" "c.588_592del" "r.(?)" "p.(Asn196LysfsTer4)" "" "0000788834" "00003688" "90" "588" "0" "592" "0" "c.588_592del" "r.(?)" "p.(Asn196LysfsTer4)" "" "0000788835" "00003688" "90" "588" "0" "592" "0" "c.588_592del" "r.(?)" "p.(Asn196LysfsTer4)" "" "0000788836" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788837" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788838" "00003688" "70" "311" "0" "313" "0" "c.311_313del" "r.(?)" "p.(Leu104_Tyr105delinsHis)" "" "0000788839" "00003688" "90" "909" "0" "925" "0" "c.909_925del" "r.(?)" "p.(Ser304LeufsTer29)" "" "0000788840" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788841" "00003688" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Trp310Ter)" "" "0000788849" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788850" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788851" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788852" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788853" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788854" "00003688" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100SerfsTer18)" "" "0000788855" "00003688" "90" "843" "0" "847" "0" "c.843_847del" "r.(?)" "p.(Lys282GlnfsTer55)" "" "0000788856" "00003688" "90" "843" "0" "847" "0" "c.843_847del" "r.(?)" "p.(Lys282GlnfsTer55)" "" "0000947675" "00003688" "30" "175" "0" "175" "0" "c.175A>C" "r.(?)" "p.(Thr59Pro)" "" "0000947676" "00003688" "30" "999" "0" "999" "0" "c.999T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000376777" "0000788830" "0000376778" "0000788831" "0000376779" "0000788832" "0000376780" "0000788833" "0000376781" "0000788834" "0000376782" "0000788835" "0000376783" "0000788836" "0000376784" "0000788837" "0000376785" "0000788838" "0000376786" "0000788839" "0000376787" "0000788840" "0000376788" "0000788841" "0000376796" "0000788849" "0000376797" "0000788850" "0000376798" "0000788851" "0000376799" "0000788852" "0000376800" "0000788853" "0000376801" "0000788854" "0000376802" "0000788855" "0000376803" "0000788856"