【佳学基因检测】疾病风险评估时查看是否包含FLNB重要吗？

基因检测的序列名称：

FLNB

人体基因序列变化与疾病表征数据库中的基因代码：

2317

人体基因序列数据库中国际交流名称全称

filamin B

中国数据库中基因全称：

纤维蛋白B

基因检测报告英文版基因简介

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

基因突变所影响的基因信息

该基因编码纤维蛋白家族的成员。编码的蛋白质与糖蛋白Ibα相互作用，是修复血管损伤的过程的一部分。血小板糖蛋白Ib复合物包括糖蛋白Ibα，并且它结合肌动蛋白细胞骨架。已经在几种情况下发现了该基因的突变：1型和3型的骨形成。回旋镖发育不良; 常染色体显性遗传拉森综合征；和脊椎腕骨滑膜综合征。已经为该基因描述了编码不同蛋白质同工型的多个选择性剪​​接的转录变体。[由RefSeq提供，2009年11月]

国际国内该碱基基因序列的其他英语文字母简称：

ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第3号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：57994127；结束位置坐标为：58157982。该基因序列在GRCh38版本中的起始位置坐标为：58008400；结束位置坐标为：58172255。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Transporters/Accessory Factors Involved in Transport

基因解码对该基因的功能分类：中文版

转运蛋白/参与转运的辅助因素

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Cytosol;Plasma membraneActin filaments;Golgi apparatus

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

胞质溶胶；质膜肌动蛋白丝；高尔基体

该基因序列变化后增加的疾病风险（国际版）：

Atelosteogenesis Type 3; Atelosteogenesis, type 1; Boomerang dysplasia; C2-C3 subluxation; Cervical spine segmentation defects; Distal tapering femur; Larsen syndrome; Larsen syndrome, dominant type; Multinucleated giant chondrocytes in epiphyseal cartilage; Poorly ossified vertebrae; Rarefaction of retinal pigmentation; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; Thoracic platyspondyly; Tombstone-shaped proximal phalanges; Widened distal phalanges; Accessory carpal bone; Block vertebrae; Broad distal phalanges; Cervical kyphosis; Delayed coalescence of calcaneal ossification centers; Hypoplastic iliac body; Hypoplastic nasal septum; Multiple carpal ossification centers; Proximal club shaped femurs; Abnormality of the radius; Hitchhiker thumb; Horizontal sacrum; Hypoplasia or unilateral/bilateral absence of ulna; Hypoplastic cervical vertebrae; Spatulate thumbs; Equinovalgus deformity; Severe short-limb dwarfism; Talipes Equinovalgus; Fused cervical vertebrae; Hypoplastic/aplastic fibulae; Spondylolysis; Abnormality of the femur; Abnormality of the humerus; Brachyonychia; Fibular aplasia; 11 pairs of ribs; Broad face; Bronchomalacia; Laryngostenosis; Congenital hypoplasia of femur; Coronal cleft vertebrae; Abnormality of the tibia; Beaked vertebral bodies; Clubbing; Dilatation of aorta; Tracheal Stenosis; Wedging of vertebra; Compression of spinal cord; Flat acetabular roof; Restrictive lung disease; Restrictive ventilatory defect; Tracheomalacia; Carpal synostosis; Hearing Loss, Mixed Conductive-Sensorineural; Spina Bifida Occulta; Tarsal Coalition; Aplasia/Hypoplasia of the lungs; Radial bowing; Shallow orbits; Short-trunked dwarfism; Abnormal development of end part of bone; Epiphyseal dysplasia; Neonatal Death; Absence of radius and ulna; Absent radius; Radial aplasia; ODONTOID HYPOPLASIA; Short upper arms; Abnormality of the metacarpal bones; Aplasia/Hypoplasia of the abdominal wall musculature; Stillbirth; Preauricular skin tag; Skin tag on the posterior cheek; Tibial bowing; Congenital cerebral hernia; Congenital omphalocele; Short metatarsal; Hydrops Fetalis; Prominent back of the head; Prominent occiput; Sandal gap; Rhizomelia; Broad nasal tip; Broad thumbs; Cystic kidney; Renal cyst; Isolated somatotropin deficiency; Defective enamel matrix; Dental Enamel Hypoplasia; Dysplasia of tooth enamel; Thin dental enamel; Dwarfism; Abnormality of pelvic girdle bone morphology; Short metacarpal; Syndactyly of fingers; Clouding of corneal stroma; Short distal phalanges; Thin hypoplastic alae nasi; Flat face; Congenital pectus carinatum; Corneal Opacity; Narrow thorax; Joint laxity; Lordosis; Micromelia; Decreased projection of maxilla; Deficiency of upper jaw bones; Hypoplasia of the maxilla; Hypotrophic maxilla; Maxillary retrognathia; Retrusion of upper jaw bones; Bulging forehead; Premature birth of newborn; Prominent forehead; Acquired flat foot; Flatfoot; Isolated cases; Premature Birth; Joint hyperflexibility; Cleft Lip; Hypodontia; Polyhydramnios; Atrial Septal Defects; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Pectus excavatum; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Bilateral fifth finger clinodactyly; Congenital clubfoot; Curvature of little finger; Ventricular Septal Defects; Conductive hearing loss; Brachydactyly; Hypotrophic malar bone; Malar flattening; Short nose; Small nose; Delayed bone age; Short neck; Frontal bossing; Uranostaphyloschisis; Infant, Small for Gestational Age; Intrauterine retardation; Fetal Growth Retardation; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Cleft Palate; Lens Opacities; Broad flat nasal bridge; Nasal bridge wide; Cataract; Orbital separation excessive; Cryptorchidism; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Short stature; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Schizophrenia; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

型骨质疏松症；成骨质疏松症1 型；飞旋镖发育不良； C2-C3半脱位；颈椎分割缺陷；远端逐渐变细的股骨；拉森综合症；拉森综合征显性型；骨骺软骨中的多核巨软骨细胞；椎骨骨化不良；视网膜色素沉着稀疏；脊椎关节发育迟缓综合征；胸椎扁平椎;墓碑状的近端指骨；加宽远端指骨；副腕骨；块椎骨;广泛的远端指骨；颈椎后凸；跟骨骨化中心的延迟合并；发育不全的髂体；鼻中隔发育不全；多个腕骨骨化中心；近端棒状股骨；半径异常；搭便车的拇指；水平骶骨；发育不全或单侧/双侧尺骨缺失；颈椎发育不全；刮大拇指；马蹄内翻畸形；严重的短肢侏儒症；马蹄足；融合颈椎;发育不良/再生障碍性腓骨；椎骨溶解；股骨异常;肱骨异常;短甲症；腓骨发育不全； 11对肋骨；宽脸;支气管软化症；喉狭窄；先天性股骨发育不全；冠状裂椎骨；胫骨异常;喙状椎体；泡吧；主动脉扩张;气管狭窄；椎骨楔形;脊髓受压；平坦的髋臼顶；限制性肺病；限制性通气障碍；气管软化症；腕关节早闭；听力损失混合传导-感觉神经性；脊柱裂隐匿；跗骨联盟；肺发育不全/发育不全；径向弯曲；浅轨道；短躯干侏儒症；骨末端发育异常；骨骺发育不良;新生儿死亡；没有桡骨和尺骨；缺少半径；放射状发育不全；齿状突发育不全；上臂短；掌骨异常;腹壁肌肉组织发育不全/发育不全；死胎;耳前皮赘；脸颊后部的皮肤标签；胫骨弯曲；先天性脑疝；先天性脐膨出；短跖骨;胎儿水肿；突出的后脑勺；突出的枕骨；凉鞋缝隙；根茎;宽鼻尖；大拇指；囊性肾;肾囊肿；孤立的生长激素缺乏症；牙釉质基质缺陷；牙釉质发育不全；牙釉质发育不良;薄牙釉质；侏儒症；骨盆带骨形态异常；短掌骨；手指并指；角膜基质混浊；远端指骨短；薄型发育不全的鼻翼；平面；先天性鸡胸；角膜混浊；狭窄的胸部;关节松弛；前凸;小梅利亚；上颌骨突出减少；上颌骨缺乏；上颌骨发育不全;上颌骨营养不良；上颌后缩;上颌骨后缩；额头隆起；新生儿早产；突出的额头；后天性扁平足；扁平足;孤立个案；早产；关节过度灵活；唇裂；缺牙症;羊水过多;房间隔缺损；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;漏斗胸;面部中部突出减少；中面部营养不良；面中部后缩；中脸小；双侧小指弯曲；先天性马蹄内翻足；小指弯曲；室间隔缺损；传导性听力损失；短指；营养不良的颧骨;颧骨变平；鼻子短；小鼻子;骨龄延迟；脖子短；正面凸起； Uranostaphyloschisis;婴儿小于胎龄儿；宫内发育迟缓;胎儿生长迟缓；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；腭裂；晶状体混浊；宽扁的鼻梁；鼻梁宽；白内障;轨道分离过度；隐睾;发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；身材矮小；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;精神分裂症;常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

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GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

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以该基因做靶点的药物（国际版）：

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针对该基因所产生的突变，可能有正确效果的药物（中文版）：

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