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Genetics Department (Catlab)

General information

Genetics Department
Catlab
Vial Sant Jordi s/n
Viladecavalls
Catalonia
Spain - 08232
https://www.catlab.cat/en/home1
Organization ID: 509737

Personnel

  • Laia Ejarque Vila, Variant scientist/curator
    Phone: 0034681311231
    Email: [email protected]
  • Jordi Roigé Boixadé, Variant scientist/curator
    Phone: 0034628167863
    Email: [email protected]
  • Maria Segura Puimedon, Variant scientist/curator
    Phone: 0034608133029
    Email: [email protected]

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 25

Gene

GeneSubmissionsLast Updated
ADD31Nov 25, 2024
AHDC11Nov 25, 2024
ANKRD111Nov 25, 2024
CCNH1Nov 25, 2024
CDKN2A1Nov 25, 2024
CLCN51Nov 25, 2024
COL6A31Nov 25, 2024
FKBP101Nov 25, 2024
GBA12Nov 25, 2024
HNF1A1Nov 25, 2024
KCNQ31Nov 25, 2024
KRT101Nov 25, 2024
KRT10-AS11Nov 25, 2024
LOC1066279812Nov 25, 2024
LOC1082811771Nov 25, 2024
LOC1268632581Nov 25, 2024
MUTYH2Nov 25, 2024
NF11Nov 25, 2024
PKD12Nov 25, 2024
PKD21Nov 6, 2024
PRKN1Nov 25, 2024
RASA11Nov 25, 2024
SAG1Nov 25, 2024
SNHG141Nov 25, 2024
SOD11Nov 25, 2024
SOX21Nov 25, 2024
SOX2-OT1Nov 25, 2024
TANC21Nov 25, 2024
UBE3A1Nov 25, 2024

Condition

NameSubmissionsLast Updated
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Nov 25, 2024
Amyotrophic lateral sclerosis type 11Nov 25, 2024
Angelman syndrome1Nov 25, 2024
Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 25, 2024
Autosomal recessive juvenile Parkinson disease 21Nov 25, 2024
Bethlem myopathy 1C1Nov 25, 2024
Bruck syndrome 11Nov 25, 2024
Capillary malformation-arteriovenous malformation 11Nov 25, 2024
Cerebral palsy, spastic quadriplegic, 31Nov 25, 2024
Dent disease type 11Nov 25, 2024
Epidermolytic hyperkeratosis 2A, autosomal dominant1Nov 25, 2024
Familial adenomatous polyposis 22Nov 25, 2024
Gaucher disease type I1Nov 25, 2024
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Nov 25, 2024
KBG syndrome1Nov 25, 2024
Maturity-onset diabetes of the young type 31Nov 25, 2024
Melanoma-pancreatic cancer syndrome1Nov 25, 2024
Neurofibromatosis, type 11Nov 25, 2024
Oguchi disease-11Nov 25, 2024
Parkinson disease, late-onset1Nov 25, 2024
Polycystic kidney disease 21Nov 6, 2024
Polycystic kidney disease, adult type2Nov 25, 2024
Seizures, benign familial neonatal, 21Nov 25, 2024
Ullrich congenital muscular dystrophy 1C1Nov 25, 2024