HUSP Clinical Genetics Laboratory
(Hospital Universitario San Pedro De Logroño (HUSP)), HSP_BDD
General information
HUSP Clinical Genetics Laboratory, HSP_BDD
Hospital Universitario San Pedro De Logroño (HUSP)
Calle Piqueras 98
Logroño
La Rioja
Spain - 26006
Organization ID: 506666
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 54
Gene
| Gene | Submissions | Last Updated |
|---|
| ANKRD11 | 1 | May 29, 2024 |
| ATL1 | 1 | May 29, 2024 |
| ATM | 2 | Aug 20, 2018 |
| BRCA1 | 1 | May 25, 2024 |
| BRCA2 | 4 | May 25, 2024 |
| C11orf65 | 1 | Aug 8, 2018 |
| CACNA1G | 1 | Jul 21, 2023 |
| CHRNG | 1 | May 29, 2024 |
| CNKSR2 | 1 | May 5, 2023 |
| COL4A1 | 1 | May 5, 2023 |
| COL4A4 | 1 | May 29, 2024 |
| COL4A5 | 1 | Apr 4, 2021 |
| COL7A1 | 2 | Jul 21, 2023 |
| CRTAP | 1 | May 29, 2024 |
| DCX | 1 | Jul 21, 2023 |
| DDX3X | 1 | Mar 9, 2021 |
| DEPDC5 | 1 | May 30, 2024 |
| DYM | 1 | May 11, 2021 |
| DYRK1A | 1 | May 29, 2024 |
| EHMT1 | 1 | May 29, 2024 |
| EPHB4 | 1 | May 29, 2024 |
| FANCA | 1 | May 29, 2024 |
| FLNB | 1 | May 5, 2023 |
| GJB1 | 1 | Jul 21, 2023 |
| GLI3 | 1 | May 29, 2024 |
| GNAS | 1 | May 1, 2021 |
| GNB1 | 2 | May 29, 2024 |
| HADHB | 1 | May 29, 2024 |
| KAT6A | 1 | May 29, 2024 |
| KCNC1 | 1 | Jul 21, 2023 |
| KCNQ3 | 1 | Mar 4, 2021 |
| KMT5B | 1 | Jul 21, 2023 |
| LMNA | 1 | May 29, 2024 |
| MTM1 | 1 | May 29, 2024 |
| MYT1L | 1 | Jul 21, 2023 |
| NAGLU | 1 | Jul 21, 2023 |
| NHLRC1 | 1 | Mar 11, 2021 |
| OPA1 | 1 | Feb 19, 2021 |
| PKD1 | 1 | Apr 4, 2021 |
| RYR1 | 1 | Mar 24, 2021 |
| SERPING1 | 2 | Jul 21, 2023 |
| SLC3A1 | 1 | May 29, 2024 |
| SPTAN1 | 1 | Mar 17, 2021 |
| TAPBPL | 1 | Jul 21, 2023 |
| TCF12 | 1 | Jul 21, 2023 |
| TSC1 | 1 | Mar 19, 2021 |
| TSC2 | 1 | May 29, 2024 |
| VAMP1 | 1 | Jul 21, 2023 |
| WFS1 | 1 | Mar 24, 2021 |
Condition
| Name | Submissions | Last Updated | | Ataxia-telangiectasia syndrome | 2 | Aug 20, 2018 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | May 29, 2024 |
| Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 24, 2021 |
| Autosomal dominant optic atrophy classic form | 1 | Feb 19, 2021 |
| Autosomal recessive Alport syndrome | 1 | May 29, 2024 |
| Autosomal recessive multiple pterygium syndrome | 1 | May 29, 2024 |
| Brain small vessel disease 1 with or without ocular anomalies | 1 | May 5, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | May 25, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | May 25, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 1 | May 29, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jul 21, 2023 |
| Charcot-Marie-Tooth disease axonal type 2V | 1 | Jul 21, 2023 |
| Cystinuria | 1 | May 29, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | May 29, 2024 |
| Developmental and epileptic encephalopathy, 5 | 1 | Mar 17, 2021 |
| Dyggve-Melchior-Clausen syndrome | 1 | May 11, 2021 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | May 29, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 30, 2024 |
| Fanconi anemia complementation group A | 1 | May 29, 2024 |
| Greig cephalopolysyndactyly syndrome | 1 | May 29, 2024 |
| Hereditary angioedema type 1 | 2 | Jul 21, 2023 |
| Hereditary spastic paraplegia 3A | 1 | May 29, 2024 |
| Intellectual disability, X-linked 102 | 1 | Mar 9, 2021 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | May 5, 2023 |
| Intellectual disability, autosomal dominant 39 | 1 | Jul 21, 2023 |
| Intellectual disability, autosomal dominant 42 | 2 | May 29, 2024 |
| Intellectual disability, autosomal dominant 51 | 1 | Jul 21, 2023 |
| KBG syndrome | 1 | May 29, 2024 |
| Kleefstra syndrome 1 | 1 | May 29, 2024 |
| Lafora disease | 1 | Mar 11, 2021 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Jul 21, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Mar 24, 2021 |
| Mitochondrial trifunctional protein deficiency 2 | 1 | May 29, 2024 |
| Osteogenesis imperfecta type 7 | 1 | May 29, 2024 |
| Pancreatic cancer, susceptibility to, 2 | 1 | May 25, 2024 |
| Polycystic kidney disease, adult type | 1 | Apr 4, 2021 |
| Progressive myoclonic epilepsy type 7 | 1 | Jul 21, 2023 |
| Pseudohypoparathyroidism type 1C | 1 | May 1, 2021 |
| Pseudohypoparathyroidism type I A | 1 | May 1, 2021 |
| Recessive dystrophic epidermolysis bullosa | 2 | Jul 21, 2023 |
| Seizures, benign familial neonatal, 2 | 1 | Mar 4, 2021 |
| Severe X-linked myotubular myopathy | 1 | May 29, 2024 |
| Spastic ataxia 1 | 1 | Jul 21, 2023 |
| Spinocerebellar ataxia type 42 | 1 | Jul 21, 2023 |
| Spondylocarpotarsal synostosis syndrome | 1 | May 5, 2023 |
| TCF12-related craniosynostosis | 1 | Jul 21, 2023 |
| Tuberous sclerosis 1 | 1 | Mar 19, 2021 |
| Tuberous sclerosis 2 | 1 | May 29, 2024 |
| X-linked Alport syndrome | 1 | Apr 4, 2021 |
