DECIPHERD-UDD
(Universidad del Desarrollo)
General information
DECIPHERD-UDD
Universidad del Desarrollo
Av Plaza 680
Santiago
Region Metropolitana
Chile - 7610658
http://www.pocofrecuentes.clOrganization ID: 509325
Personnel
- Daniela Bohme, Variant scientist/curator
Phone: +56225783511
Email: [email protected] - Boris Rebolledo-Jaramillo, Principal Investigator
Phone: +56223279202
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 55
Gene
| Gene | Submissions | Last Updated |
|---|
| ABAT | 1 | Nov 13, 2023 |
| ADGRV1 | 2 | Nov 13, 2023 |
| AHDC1 | 1 | Nov 13, 2023 |
| ANK3 | 1 | Nov 13, 2023 |
| ARID2 | 1 | Nov 13, 2023 |
| BCOR | 1 | Nov 13, 2023 |
| CAV1 | 1 | Nov 13, 2023 |
| CCDC85C | 1 | Nov 13, 2023 |
| CCNK | 1 | Nov 13, 2023 |
| CDC42BPB | 1 | Nov 13, 2023 |
| CHAMP1 | 1 | Nov 13, 2023 |
| DDX3X | 1 | Nov 13, 2023 |
| DYRK1A | 1 | Nov 13, 2023 |
| EFTUD2 | 1 | Nov 13, 2023 |
| ERCC6 | 1 | Nov 13, 2023 |
| GNAI3 | 1 | Nov 13, 2023 |
| GRIN1 | 1 | Nov 13, 2023 |
| INTS1 | 1 | Nov 13, 2023 |
| KANSL1 | 1 | Nov 13, 2023 |
| KAT6A | 1 | Nov 13, 2023 |
| KDM5C | 1 | Nov 13, 2023 |
| KMT2A | 1 | Nov 13, 2023 |
| LOC130057678 | 1 | Nov 13, 2023 |
| LRP2 | 1 | Nov 13, 2023 |
| MAF | 1 | Nov 13, 2023 |
| MECP2 | 1 | Nov 13, 2023 |
| MNX1 | 1 | Nov 13, 2023 |
| NFIX | 1 | Nov 13, 2023 |
| NLRP3 | 1 | Jan 23, 2024 |
| NOG | 1 | Nov 13, 2023 |
| PCLO | 2 | Nov 13, 2023 |
| PDHA1 | 1 | Nov 13, 2023 |
| PKD1 | 2 | Nov 13, 2023 |
| POLR2F | 1 | Nov 13, 2023 |
| PUF60 | 1 | Nov 13, 2023 |
| RPS6KA3 | 1 | Nov 13, 2023 |
| SETD5 | 1 | Nov 13, 2023 |
| SKI | 1 | Nov 13, 2023 |
| SLC35A2 | 1 | Nov 13, 2023 |
| SMARCA4 | 1 | Nov 13, 2023 |
| SOX10 | 1 | Nov 13, 2023 |
| SPTBN2 | 1 | Nov 13, 2023 |
| TBC1D2B | 1 | Nov 13, 2023 |
| TCF4 | 1 | Nov 13, 2023 |
| TECPR2 | 1 | Nov 13, 2023 |
| TK2 | 2 | Nov 13, 2023 |
| TTN | 1 | Nov 13, 2023 |
| UBE3B | 1 | Nov 13, 2023 |
| ZBTB20 | 1 | Nov 13, 2023 |
Condition
| Name | Submissions | Last Updated | | 8q24.3 microdeletion syndrome | 1 | Nov 13, 2023 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Nov 13, 2023 |
| Angelman syndrome | 1 | Nov 13, 2023 |
| Auriculocondylar syndrome 1 | 1 | Nov 13, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 13, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Nov 13, 2023 |
| Ayme-Gripp syndrome | 1 | Nov 13, 2023 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 | Nov 13, 2023 |
| Chromosome 22q11.2 deletion syndrome, distal | 1 | Nov 13, 2023 |
| Chromosome 6q24-q25 deletion syndrome | 1 | Nov 13, 2023 |
| Cockayne syndrome type 2 | 2 | Nov 13, 2023 |
| Coffin-Lowry syndrome | 1 | Nov 13, 2023 |
| Coffin-Siris syndrome 6 | 1 | Nov 13, 2023 |
| Currarino triad | 1 | Nov 13, 2023 |
| DYRK1A-related intellectual disability syndrome | 1 | Nov 13, 2023 |
| Donnai-Barrow syndrome | 1 | Nov 13, 2023 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Nov 13, 2023 |
| Hereditary spastic paraplegia 49 | 1 | Nov 13, 2023 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | Nov 13, 2023 |
| Intellectual disability, X-linked 102 | 1 | Nov 13, 2023 |
| Intellectual disability, X-linked 19 | 1 | Nov 13, 2023 |
| Intellectual disability, autosomal dominant 16 | 1 | Nov 13, 2023 |
| Intellectual disability, autosomal dominant 40 | 1 | Nov 13, 2023 |
| Intellectual disability, autosomal dominant 8 | 1 | Nov 13, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Nov 13, 2023 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 | Nov 13, 2023 |
| Koolen-de Vries syndrome | 1 | Nov 13, 2023 |
| Long COVID-19 | 1 | Jan 23, 2024 |
| Malan overgrowth syndrome | 1 | Nov 13, 2023 |
| Mandibulofacial dysostosis-microcephaly syndrome | 1 | Nov 13, 2023 |
| Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | 1 | Nov 13, 2023 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 1 | Nov 13, 2023 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Nov 13, 2023 |
| Oculofaciocardiodental syndrome | 1 | Nov 13, 2023 |
| Pitt-Hopkins syndrome | 1 | Nov 13, 2023 |
| Polycystic kidney disease, adult type | 2 | Nov 13, 2023 |
| Pontocerebellar hypoplasia type 3 | 2 | Nov 13, 2023 |
| Primrose syndrome | 1 | Nov 13, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 2 | Nov 13, 2023 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Nov 13, 2023 |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 1 | Nov 13, 2023 |
| SLC35A2-congenital disorder of glycosylation | 1 | Nov 13, 2023 |
| Shprintzen-Goldberg syndrome | 1 | Nov 13, 2023 |
| Spinocerebellar ataxia type 5 | 1 | Nov 13, 2023 |
| Stapes ankylosis with broad thumbs and toes | 1 | Nov 13, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Nov 13, 2023 |
| Usher syndrome type 2C | 2 | Nov 13, 2023 |
| Waardenburg syndrome type 4C | 1 | Nov 13, 2023 |
| Wiedemann-Steiner syndrome | 1 | Nov 13, 2023 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Nov 13, 2023 |
| Xq13q21 duplication | 1 | Nov 13, 2023 |
