{
  "url": "https://dantelabs.com/el/genes/cyp7b1",
  "gene": {
    "slug": "cyp7b1",
    "symbol": "CYP7B1",
    "name": "cytochrome P450 family 7 subfamily B member 1",
    "hgnc": "HGNC:2652",
    "summary": null,
    "location": "8q12.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "SPG5A"
    ],
    "ensemblId": "ENSG00000172817",
    "entrezId": 9420,
    "omim": [
      "603711"
    ],
    "uniprot": [
      "O75881"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 64590851,
      "end": 64798737,
      "strand": "-",
      "ensemblTranscript": "ENST00000310193.4",
      "refseqTranscript": "NM_004820.5",
      "ensemblProtein": "ENSP00000310721.3",
      "refseqProtein": "NP_004811.1",
      "exons": [
        {
          "start": 64590851,
          "end": 64596929
        },
        {
          "start": 64604682,
          "end": 64604857
        },
        {
          "start": 64615026,
          "end": 64615232
        },
        {
          "start": 64615691,
          "end": 64616281
        },
        {
          "start": 64624403,
          "end": 64624539
        },
        {
          "start": 64798466,
          "end": 64798737
        }
      ],
      "cds": {
        "start": 64596642,
        "end": 64798587
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 65500320,
      "end": 65711318,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 64194794,
      "end": 65194793,
      "genes": [
        {
          "symbol": "BHLHE22",
          "ensemblId": "ENSG00000180828",
          "biotype": "protein_coding",
          "start": 64580365,
          "end": 64583627,
          "strand": "+",
          "slug": "bhlhe22"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cyp7b1-related-spastic-paraplegia-and-liver-disease",
        "name": "Σπαστική παραπληγία και νόσος του ήπατος σχετιζόμενη με το CYP7B1",
        "diseases": [
          {
            "mondoId": "MONDO:1060107",
            "name": "Διαταραχή συσσώρευσης οξυστερολίων σχετιζόμενη με το CYP7B1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από μεταλλάξεις απώλειας λειτουργίας και στα δύο αντίγραφα του CYP7B1, το οποίο κωδικοποιεί την οξυστερόλη 7-άλφα-υδροξυλάση, ένα ένζυμο της παραγωγής χολικών οξέων. Η απώλειά του συνδέεται με τη σπαστική παραπληγία τύπου 5 και, σε ορισμένα άτομα, με νόσο του ήπατος.",
            "management": "Η σπαστική παραπληγία αντιμετωπίζεται με φυσιοθεραπεία, φάρμακα κατά της σπαστικότητας και βοηθήματα κινητικότητας. Τα άτομα με νόσο του ήπατος αντιμετωπίζονται από εξειδικευμένες ομάδες ηπατολογίας. Και οι δύο γονείς ενός πάσχοντος παιδιού είναι συνήθως φορείς, οπότε κάθε επόμενο παιδί έχει πιθανότητα 1 στις 4 να πάσχει· διατίθενται γενετική συμβουλευτική και έλεγχος φορέα για συγγενείς.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/cyp7b1-related-spastic-paraplegia-and-liver-disease"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Κληρονομική σπαστική παραπληγία",
        "diseases": [
          {
            "mondoId": "MONDO:0019064",
            "name": "Κληρονομική σπαστική παραπληγία (όλοι οι τύποι)",
            "genes": 66,
            "inheritance": null,
            "description": "Γενικός όρος που καλύπτει όλες τις κληρονομικές σπαστικές παραπληγίες, συμπεριλαμβανομένης της SPG4 (SPAST), της συχνότερης επικρατούσας μορφής, καθώς και των SPG5A, SPG6, SPG10, SPG18, SPG30 και SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Κληρονομικές νευροεκφυλιστικές διαταραχές",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Νευροεκφυλιστική διαταραχή που σχετίζεται με το KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Προκαλείται από μεταβολές σε ένα αντίγραφο του KIF5A, του γονιδίου που κωδικοποιεί μια κινητική πρωτεΐνη με ουρά πρόσδεσης φορτίου. Διαφορετικά είδη μεταβολής οδηγούν σε διαφορετικά νοσήματα: κληρονομική σπαστική παραπληγία τύπου 10, αξονική μορφή νόσου Charcot-Marie-Tooth και αμυοτροφική πλευρική σκλήρυνση (ALS).",
            "management": "Η φροντίδα είναι συμπτωματική και εξαρτάται από την εικόνα της νόσου, και περιλαμβάνει φυσιοθεραπεία, φάρμακα για τη σπαστικότητα και πολυκλινική φροντίδα για την ALS. Κάθε παιδί ατόμου που πάσχει έχει πιθανότητα 1 στις 2 να κληρονομήσει τη μεταβολή· η γενετική συμβουλευτική βοηθά τις οικογένειες να το κατανοήσουν.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "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-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "abnormality-of-vitamin-metabolism",
        "name": "Abnormality of vitamin metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vitamin-metabolism"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "acholic-stools",
        "name": "Clay colored stools",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acholic-stools"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "atrophy-of-the-spinal-cord",
        "name": "Degeneration of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrophy-of-the-spinal-cord"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "ductal-bile-plugs",
        "name": "Ductal bile plugs",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ductal-bile-plugs"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fat-malabsorption",
        "name": "Fat malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fat-malabsorption"
      },
      {
        "slug": "hepatic-bridging-fibrosis",
        "name": "Hepatic bridging fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-bridging-fibrosis"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "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": "very-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": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "hematochezia",
        "name": "Rectal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hematochezia"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "limb-dysmetria",
        "name": "Uncoordinated limb movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-dysmetria"
      },
      {
        "slug": "upper-limb-amyotrophy",
        "name": "Upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-limb-amyotrophy"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}