Laboratory of Prof. Karen Avraham
(Tel Aviv University)
General information
Laboratory of Prof. Karen Avraham
Tel Aviv University
Ramat Aviv
Tel Aviv
Israel - 69978
Organization ID: 505713
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 96
Gene
| Gene | Submissions | Last Updated |
|---|
| ANKRD36 | 2 | Mar 8, 2020 |
| ATOH1 | 1 | Nov 24, 2019 |
| ATP11A | 1 | Dec 9, 2021 |
| ATP2B2 | 1 | Mar 8, 2020 |
| CABP2 | 2 | Mar 8, 2020 |
| CDH23 | 1 | May 3, 2016 |
| CEACAM16 | 1 | May 3, 2016 |
| CEACAM16-AS1 | 1 | May 3, 2016 |
| CIB2 | 1 | Feb 4, 2021 |
| CLPP | 2 | Nov 24, 2019 |
| COCH | 2 | Nov 24, 2019 |
| COL11A2 | 2 | Nov 24, 2019 |
| EYA4 | 2 | Mar 5, 2020 |
| GATA3 | 2 | Nov 24, 2019 |
| GJB2 | 1 | May 3, 2016 |
| GRIN2D | 1 | Jan 12, 2021 |
| LOC100506071 | 2 | Nov 24, 2019 |
| LOC105371566 | 4 | Oct 27, 2020 |
| LOC105378311 | 1 | Nov 24, 2019 |
| LOC111982869 | 1 | May 3, 2016 |
| LOC126861365 | 1 | May 3, 2016 |
| LOC130063288 | 1 | Nov 24, 2019 |
| LOC130064857 | 1 | Jan 12, 2021 |
| LOXHD1 | 4 | Dec 31, 2020 |
| MITF | 3 | Nov 24, 2019 |
| MYO15A | 17 | Feb 4, 2021 |
| MYO6 | 4 | Mar 8, 2020 |
| MYO7A | 4 | Nov 24, 2019 |
| OTOF | 1 | May 3, 2016 |
| PCDH15 | 3 | Nov 24, 2019 |
| POLR2F | 1 | Nov 24, 2019 |
| POU3F4 | 2 | Nov 24, 2019 |
| SIX1 | 1 | Dec 9, 2021 |
| SLC26A4 | 6 | Nov 24, 2019 |
| SOX10 | 1 | Nov 24, 2019 |
| STRC | 4 | Mar 5, 2020 |
| SYNE4 | 1 | May 3, 2016 |
| TARID | 1 | Mar 5, 2020 |
| TBC1D24 | 1 | May 3, 2016 |
| TBCEL-TECTA | 4 | Nov 24, 2019 |
| TECTA | 4 | Nov 24, 2019 |
| TJP2 | 3 | Nov 24, 2019 |
| TMC1 | 7 | May 3, 2016 |
| USH1C | 1 | Nov 24, 2019 |
| USH2A | 2 | May 3, 2016 |
| USH2A-AS1 | 1 | May 3, 2016 |
| WFS1 | 4 | Dec 9, 2021 |
Condition
| Name | Submissions | Last Updated | | Anosmia | 1 | Nov 24, 2019 |
| Autosomal dominant nonsyndromic hearing loss | 1 | Mar 8, 2020 |
| Autosomal dominant nonsyndromic hearing loss 10 | 2 | Mar 5, 2020 |
| Autosomal dominant nonsyndromic hearing loss 11 | 1 | May 3, 2016 |
| Autosomal dominant nonsyndromic hearing loss 12 | 3 | May 3, 2016 |
| Autosomal dominant nonsyndromic hearing loss 16 | 3 | May 3, 2016 |
| Autosomal dominant nonsyndromic hearing loss 22 | 4 | Mar 8, 2020 |
| Autosomal dominant nonsyndromic hearing loss 23 | 1 | Dec 9, 2021 |
| Autosomal dominant nonsyndromic hearing loss 33 | 1 | Dec 9, 2021 |
| Autosomal dominant nonsyndromic hearing loss 51 | 3 | Nov 24, 2019 |
| Autosomal dominant nonsyndromic hearing loss 6 | 2 | Nov 24, 2019 |
| Autosomal dominant nonsyndromic hearing loss 9 | 2 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 12 | 2 | May 3, 2016 |
| Autosomal recessive nonsyndromic hearing loss 16 | 1 | Mar 5, 2020 |
| Autosomal recessive nonsyndromic hearing loss 2 | 3 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 21 | 1 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 23 | 2 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 3 | 17 | Feb 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 4 | 4 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 48 | 1 | Feb 4, 2021 |
| Autosomal recessive nonsyndromic hearing loss 53 | 2 | Nov 24, 2019 |
| Autosomal recessive nonsyndromic hearing loss 7 | 7 | May 3, 2016 |
| Autosomal recessive nonsyndromic hearing loss 76 | 1 | May 3, 2016 |
| Autosomal recessive nonsyndromic hearing loss 77 | 4 | Dec 31, 2020 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | May 3, 2016 |
| Autosomal recessive nonsyndromic hearing loss 9 | 1 | May 3, 2016 |
| Autosomal recessive nonsyndromic hearing loss 93 | 2 | Mar 8, 2020 |
| Branchiootic syndrome 3 | 1 | Dec 9, 2021 |
| Developmental and epileptic encephalopathy, 46 | 1 | Jan 12, 2021 |
| Dominant congenital non-syndromic sensorineural hearing loss | 1 | Nov 24, 2019 |
| Dominant congenital profound hearing loss | 1 | Nov 24, 2019 |
| Dominant progressive sensorineural hearing loss | 1 | Nov 24, 2019 |
| Hearing loss, autosomal recessive | 2 | Mar 8, 2020 |
| Hypoparathyroidism, deafness, renal disease syndrome | 1 | May 3, 2016 |
| Nonsyndromic genetic hearing loss | 3 | May 3, 2016 |
| Pendred syndrome | 2 | May 3, 2016 |
| Perrault syndrome 3 | 2 | Nov 24, 2019 |
| Stapes ankylosis with broad thumbs and toes | 1 | Nov 30, 2020 |
| Usher syndrome type 1C | 1 | Nov 24, 2019 |
| Usher syndrome type 1F | 1 | Nov 24, 2019 |
| Waardenburg syndrome type 2A | 3 | Nov 24, 2019 |
| Wolfram syndrome 1 | 2 | Dec 9, 2021 |
| X-linked mixed hearing loss with perilymphatic gusher | 2 | Nov 24, 2019 |
