Reproductive Development (Murdoch Childrens Research Institute), ReproDev
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 106
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AMHR2 | 1 | Oct 6, 2018 |
| BMPR1B | 1 | Oct 6, 2018 |
| CAMSAP2 | 2 | Oct 6, 2018 |
| CASTOR3 | 1 | Oct 21, 2019 |
| CCNT2 | 1 | Oct 6, 2018 |
| CDC7 | 1 | Oct 6, 2018 |
| CENPI | 1 | Oct 6, 2018 |
| CKB | 1 | Oct 6, 2018 |
| CLPB | 2 | May 23, 2022 |
| CLPP | 1 | Jan 14, 2020 |
| CROCC | 2 | Oct 6, 2018 |
| DDI1 | 1 | Oct 6, 2018 |
| DNAH1 | 2 | Oct 6, 2018 |
| EIF2B2 | 2 | Jan 21, 2018 |
| ERCC6L2 | 1 | Oct 6, 2018 |
| ESRRB | 1 | Oct 6, 2018 |
| ESRRG | 2 | Oct 6, 2018 |
| FANCL | 1 | Oct 6, 2018 |
| FANCM | 1 | Dec 28, 2023 |
| FOXK2 | 2 | Oct 6, 2018 |
| GATA4 | 4 | Sep 13, 2019 |
| GGPS1 | 2 | Jan 14, 2020 |
| GNRHR | 1 | Dec 28, 2023 |
| GREM1 | 1 | Oct 6, 2018 |
| HERC1 | 2 | Oct 6, 2018 |
| HFM1 | 1 | Aug 29, 2021 |
| HHAT | 1 | Dec 28, 2023 |
| HROB | 1 | Aug 29, 2021 |
| LARS2 | 4 | Feb 27, 2022 |
| LARS2-AS1 | 3 | Feb 27, 2022 |
| LOC126861258 | 2 | May 23, 2022 |
| LOC126861630 | 1 | Mar 14, 2023 |
| LOC130061409 | 1 | Oct 6, 2018 |
| MCM8 | 1 | Aug 29, 2021 |
| MCM9 | 1 | Oct 6, 2018 |
| MRE11 | 1 | Oct 6, 2018 |
| MRPL50 | 1 | Dec 31, 2022 |
| MRPS7 | 2 | Sep 20, 2022 |
| NBN | 1 | Jan 21, 2018 |
| NEK8 | 2 | Oct 6, 2018 |
| NTRK3 | 1 | Oct 6, 2018 |
| NUP107 | 2 | Aug 29, 2021 |
| NUP155 | 1 | Oct 6, 2018 |
| PDGFD | 1 | Oct 6, 2018 |
| PEX6 | 2 | Jan 14, 2020 |
| POF1B | 1 | Aug 29, 2021 |
| PREPL | 2 | Oct 6, 2018 |
| RAD50 | 2 | Oct 6, 2018 |
| RAD51C | 1 | Oct 6, 2018 |
| REC8 | 3 | Aug 29, 2021 |
| SART3 | 8 | Mar 14, 2023 |
| SMARCD2 | 1 | Oct 6, 2018 |
| SOX3 | 1 | Oct 6, 2018 |
| SOX9 | 2 | Oct 9, 2018 |
| SSH1 | 1 | Oct 6, 2018 |
| STAG1 | 1 | Oct 6, 2018 |
| STAG3 | 2 | Aug 29, 2021 |
| SYCP2L | 1 | Dec 28, 2023 |
| TFAM | 1 | Jan 14, 2020 |
| TH2LCRR | 1 | Oct 6, 2018 |
| TOP1MT | 1 | Jan 14, 2020 |
| TP63 | 5 | Apr 19, 2022 |
| TTC16 | 1 | Oct 6, 2018 |
| UBR4 | 1 | Oct 6, 2018 |
| USP53 | 3 | Oct 6, 2018 |
| VRK2 | 1 | Oct 6, 2018 |
| ZFPM2 | 10 | Sep 13, 2019 |
| ZFPM2-AS1 | 8 | Sep 13, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 46,XX sex reversal 2 | 2 | Oct 9, 2018 |
| 46,XY sex reversal 3 | 14 | Sep 13, 2019 |
| Cerebellar ataxia | 2 | Jan 14, 2020 |
| Cognitive impairment | 2 | Jan 14, 2020 |
| Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis | 8 | Mar 14, 2023 |
| Myopathy | 2 | Jan 14, 2020 |
| Neutropenia | 2 | May 23, 2022 |
| Ovarian dysgenesis 6 | 1 | Aug 29, 2021 |
| Paroxysmal dystonia | 2 | Jan 14, 2020 |
| Peripheral neuropathy | 2 | Jan 14, 2020 |
| Perrault syndrome 3 | 1 | Jan 14, 2020 |
| Perrault syndrome 4 | 4 | Feb 27, 2022 |
| Premature ovarian failure 10 | 1 | Aug 29, 2021 |
| Premature ovarian failure 2B | 1 | Aug 29, 2021 |
| Premature ovarian failure 8 | 2 | Aug 29, 2021 |
| Premature ovarian failure 9 | 1 | Aug 29, 2021 |
| Premature ovarian insufficiency | 65 | Sep 20, 2022 |
| See cases | 5 | Dec 28, 2023 |
| Sensorineural hearing loss disorder | 8 | Sep 20, 2022 |