Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery
(Institute of Otolaryngology, Chinese PLA General Hospital), DGTC
General information
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, DGTC
Institute of Otolaryngology, Chinese PLA General Hospital
Beijing
China
Organization ID: 506993
Personnel
- YONGYI YUAN, Principal Investigator
Phone: +8613311255627
Email: yyymzh@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 200
Gene
| Gene | Submissions | Last Updated |
|---|
| ACTG1 | 1 | Apr 29, 2019 |
| ADGRV1 | 6 | Apr 29, 2019 |
| ANAPC15 | 1 | Apr 29, 2019 |
| C10orf105 | 1 | Apr 29, 2019 |
| CDH23 | 4 | Apr 29, 2019 |
| CLDN14 | 1 | Apr 29, 2019 |
| CLDN14-AS1 | 1 | Apr 29, 2019 |
| COL1A1 | 2 | Aug 12, 2019 |
| COL9A2 | 1 | Aug 12, 2019 |
| DIAPH1 | 1 | Aug 12, 2019 |
| DSPP | 2 | Aug 12, 2019 |
| EDNRB | 1 | Apr 29, 2019 |
| ERCC2 | 3 | Apr 29, 2019 |
| ERCC3 | 1 | Apr 29, 2019 |
| FGF3 | 1 | Apr 29, 2019 |
| FGFR3 | 1 | Apr 29, 2019 |
| GIPC3 | 1 | Apr 29, 2019 |
| GJB2 | 14 | Aug 12, 2019 |
| GJB3 | 1 | Apr 29, 2019 |
| ILDR1 | 1 | Apr 29, 2019 |
| KCNQ1 | 1 | Apr 29, 2019 |
| KCNQ4 | 1 | Apr 29, 2019 |
| LOC105371566 | 10 | Aug 12, 2019 |
| LOC123956210 | 2 | Apr 29, 2019 |
| LOC130003093 | 1 | Apr 29, 2019 |
| LOXHD1 | 2 | Aug 12, 2019 |
| LRTOMT | 1 | Apr 29, 2019 |
| MARVELD2 | 1 | Apr 29, 2019 |
| MITF | 15 | Dec 17, 2020 |
| MPZL2 | 4 | Dec 13, 2022 |
| MYO15A | 13 | Aug 12, 2019 |
| MYO3A | 3 | Apr 29, 2019 |
| MYO7A | 7 | Aug 12, 2019 |
| NDRG1 | 1 | Aug 12, 2019 |
| OTOA | 5 | Dec 13, 2022 |
| OTOF | 3 | Apr 29, 2019 |
| PAX3 | 13 | Dec 17, 2020 |
| PCDH15 | 3 | Apr 29, 2019 |
| POLR2F | 19 | Dec 17, 2020 |
| POU3F4 | 1 | Apr 29, 2019 |
| PROKR2 | 1 | Aug 12, 2019 |
| PTPN11 | 9 | Aug 12, 2019 |
| SALL1 | 1 | Aug 12, 2019 |
| SIX1 | 1 | Aug 12, 2019 |
| SLC26A4 | 29 | Apr 29, 2019 |
| SLC26A4-AS1 | 2 | Apr 29, 2019 |
| SOX10 | 20 | Dec 17, 2020 |
| STRC | 1 | Apr 29, 2019 |
| TBC1D24 | 1 | Aug 12, 2019 |
| TBCEL-TECTA | 4 | Aug 12, 2019 |
| TECTA | 4 | Aug 12, 2019 |
| TMC1 | 3 | Apr 29, 2019 |
| TMPRSS3 | 1 | Apr 29, 2019 |
| TNC | 1 | Aug 12, 2019 |
| TOMT | 1 | Apr 29, 2019 |
| TPRN | 2 | Apr 29, 2019 |
| TRIOBP | 4 | Apr 29, 2019 |
| USH1C | 2 | Apr 29, 2019 |
| USH1G | 1 | Apr 29, 2019 |
| USH2A | 2 | Apr 29, 2019 |
| USH2A-AS1 | 1 | Apr 29, 2019 |
| WHRN | 1 | Apr 29, 2019 |
Condition
| Name | Submissions | Last Updated | | Autosomal dominant nonsyndromic hearing loss 1 | 1 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 12 | 3 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 20 | 1 | Apr 29, 2019 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 2A | 1 | Apr 29, 2019 |
| Autosomal dominant nonsyndromic hearing loss 3A | 2 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 56 | 1 | Aug 12, 2019 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Aug 12, 2019 |
| Autosomal recessive nonsyndromic hearing loss 12 | 4 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 15 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 18A | 2 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 1A | 13 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 2 | 6 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 22 | 5 | Dec 13, 2022 |
| Autosomal recessive nonsyndromic hearing loss 23 | 3 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 28 | 4 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 3 | 13 | Aug 12, 2019 |
| Autosomal recessive nonsyndromic hearing loss 30 | 3 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 31 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 4 | 29 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 42 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 49 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 63 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 7 | 3 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 77 | 2 | Aug 12, 2019 |
| Autosomal recessive nonsyndromic hearing loss 79 | 2 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 8 | 1 | Apr 29, 2019 |
| Autosomal recessive nonsyndromic hearing loss 9 | 3 | Apr 29, 2019 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 | Apr 29, 2019 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Apr 29, 2019 |
| Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 2 | Aug 12, 2019 |
| Hearing loss, autosomal recessive 111 | 4 | Dec 13, 2022 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Aug 12, 2019 |
| LEOPARD syndrome 1 | 2 | Aug 12, 2019 |
| Long QT syndrome 1 | 1 | Apr 29, 2019 |
| Noonan syndrome 1 | 7 | Aug 12, 2019 |
| Osteogenesis imperfecta, perinatal lethal | 2 | Aug 12, 2019 |
| Stickler syndrome, type 5 | 1 | Aug 12, 2019 |
| Usher syndrome type 1G | 1 | Apr 29, 2019 |
| Usher syndrome type 2A | 2 | Apr 29, 2019 |
| Usher syndrome type 2C | 6 | Apr 29, 2019 |
| Waardenburg syndrome type 1 | 14 | Dec 17, 2020 |
| Waardenburg syndrome type 2A | 14 | Dec 17, 2020 |
| Waardenburg syndrome type 2E | 20 | Dec 17, 2020 |
| Waardenburg syndrome type 4A | 1 | Apr 29, 2019 |
| X-linked mixed hearing loss with perilymphatic gusher | 1 | Apr 29, 2019 |
| Xeroderma pigmentosum group B | 1 | Apr 29, 2019 |
| Xeroderma pigmentosum, group D | 3 | Apr 29, 2019 |
| not specified | 2 | Aug 12, 2019 |
