Medical Genetics Laboratory (West China Hospital, Sichuan University), MGL
General information
Personnel
- He rong, Staff
Phone: 18980601814
Email: [email protected] - Yang Yuan, Genetic Counselor
Phone: 18980601814
Email: [email protected] - Liu Yunqiang, Genetic Counselor
Phone: 13980910715
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 16
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALDH1A3 | 2 | Jul 15, 2020 |
| ALDH1A3-AS1 | 1 | Jul 15, 2020 |
| BMPR1A | 1 | Sep 26, 2020 |
| CDKN1C | 1 | Jul 17, 2020 |
| COL1A2 | 1 | Sep 17, 2020 |
| CRX | 1 | Jul 21, 2020 |
| F5 | 1 | Jul 17, 2020 |
| FBN2 | 1 | Jul 17, 2020 |
| HINT1 | 1 | Jul 21, 2020 |
| LOC100507346 | 1 | Jul 17, 2020 |
| OFD1 | 1 | Sep 18, 2020 |
| PTCH1 | 1 | Jul 17, 2020 |
| RYR2 | 1 | Sep 18, 2020 |
| TBCD | 2 | Sep 18, 2020 |
| TGM1 | 2 | Feb 27, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive axonal neuropathy with neuromyotonia | 1 | Jul 21, 2020 |
| Autosomal recessive congenital ichthyosis 1 | 2 | Feb 27, 2020 |
| Beckwith-Wiedemann syndrome | 1 | Jul 17, 2020 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 1 | Sep 18, 2020 |
| Congenital contractural arachnodactyly | 1 | Jul 17, 2020 |
| Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 2 | Sep 18, 2020 |
| Factor V deficiency | 1 | Jul 17, 2020 |
| Generalized juvenile polyposis/juvenile polyposis coli | 1 | Sep 26, 2020 |
| Gorlin syndrome | 1 | Jul 17, 2020 |
| Isolated anophthalmia-microphthalmia syndrome | 2 | Jul 15, 2020 |
| Joubert syndrome 10 | 1 | Sep 18, 2020 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Sep 17, 2020 |
| Retinitis pigmentosa | 1 | Jul 21, 2020 |