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"-", "slug": "mterf4" }, { "symbol": "PASK", "ensemblId": "ENSG00000115687", "biotype": "protein_coding", "start": 241106094, "end": 241150852, "strand": "-", "slug": "pask" }, { "symbol": "PPP1R7", "ensemblId": "ENSG00000115685", "biotype": "protein_coding", "start": 241149549, "end": 241183652, "strand": "+", "slug": "ppp1r7" }, { "symbol": "ANO7", "ensemblId": "ENSG00000146205", "biotype": "protein_coding", "start": 241188509, "end": 241227338, "strand": "+", "slug": "ano7" }, { "symbol": "HDLBP", "ensemblId": "ENSG00000115677", "biotype": "protein_coding", "start": 241227264, "end": 241317061, "strand": "-", "slug": "hdlbp" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Neuropatias Sensitivas e Autonómicas Hereditárias (incl. 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"Paraplegia Espástica Hereditária", "diseases": [ { "mondoId": "MONDO:0019064", "name": "Paraplegia Espástica Hereditária (Todos os Tipos)", "genes": 66, "inheritance": null, "description": "Termo geral que abrange todas as paraplegias espásticas hereditárias, incluindo a SPG4 (SPAST), a forma dominante mais comum, bem como a SPG5A, a SPG6, a SPG10, a SPG18, a SPG30 e a SPG31.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/hereditary-spastic-paraplegia" }, { "slug": "intellectual-disability", "name": "Deficiência Intelectual", "diseases": [ { "mondoId": "MONDO:0001071", "name": "deficiência intelectual", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cortical-bone-morphology", "name": "Abnormal cortical bone morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "ankle-clonus", "name": "Abnormal rhythmic movements of ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-clonus" }, { "slug": "abnormal-saccadic-eye-movements", "name": "Abnormal saccadic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-saccadic-eye-movements" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormality-of-the-ankle", "name": "Abnormality of the ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-ankle" }, { "slug": "abnormal-hip-bone-morphology", "name": "Abnormality of the hip bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-hip-bone-morphology" }, { "slug": "abnormality-of-the-knee", "name": "Abnormality of the knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-knee" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "acral-ulceration", "name": "Acral ulceration", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acral-ulceration" }, { "slug": "appendicular-spasticity", "name": "Appendicular spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/appendicular-spasticity" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autoamputation-of-digits", "name": "Autoamputation of digits", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/autoamputation-of-digits" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "osteolysis", "name": "Breakdown of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteolysis" }, { "slug": "osteolytic-defects-of-the-phalanges-of-the-hand", "name": "Breakdown of small bones of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteolytic-defects-of-the-phalanges-of-the-hand" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "decreased-corneal-reflex", "name": "Decreased corneal reflex", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/decreased-corneal-reflex" }, { "slug": "decreased-nerve-conduction-velocity", "name": "Decreased nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity" }, { "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers", "name": "Decreased number of peripheral myelinated nerve fibers", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "decreased-sensory-nerve-conduction-velocity", "name": "Decreased sensory nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity" }, { "slug": "hypogeusia", "name": "Decreased taste", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypogeusia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "diffuse-cerebellar-atrophy", "name": "Diffuse cerebellar atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-cerebellar-atrophy" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "distal-peripheral-sensory-neuropathy", "name": "Distal peripheral sensory neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-peripheral-sensory-neuropathy" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "foot-acroosteolysis", "name": "Foot acroosteolysis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/foot-acroosteolysis" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "impaired-distal-proprioception", "name": "Impaired distal proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-proprioception" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intrinsic-hand-muscle-atrophy", "name": "Intrinsic hand muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "abnormality-of-metabolism-homeostasis", "name": "Laboratory abnormality", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/anhidrosis" }, { "slug": "leg-muscle-stiffness", "name": "Leg muscle stiffness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leg-muscle-stiffness" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "lower-limb-amyotrophy", "name": "Lower limb amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-amyotrophy" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "hypoesthesia", "name": "Numbness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoesthesia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "painless-fractures-due-to-injury", "name": "Painless fractures due to injury", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/painless-fractures-due-to-injury" }, { "slug": "paronychia", "name": "Paronychia", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/paronychia" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "dystrophic-fingernails", "name": "Poor fingernail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystrophic-fingernails" }, { "slug": "dystrophic-toenail", "name": "Poor toenail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystrophic-toenail" }, { "slug": "progressive-spastic-paraplegia", "name": "Progressive spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "scissor-gait", "name": "Scissor gait", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scissor-gait" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "episodic-hyperhidrosis", "name": "Sporadic excessive sweating", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/episodic-hyperhidrosis" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "urinary-bladder-sphincter-dysfunction", "name": "Urinary bladder sphincter dysfunction", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction" } ], "related": [ { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/atl1" }, { "slug": "tecpr2", "symbol": "TECPR2", "name": "tectonin beta-propeller repeat containing 2", "shared": 2, "url": "https://dantelabs.com/pt/genes/tecpr2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/pt/genes/abhd16a" }, { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/pt/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/pt/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/pt/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/ahdc1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aifm1" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aldh18a1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/alkbh8" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }