RYR1 @EMQN
/The RYR1 expert group at work for marking at the EMQN meeting in Edinburgh
Read MoreEMHG annual meeting registration open
/We are happy to announce that registration for the annual meeting is open!
Visit https://www.emhg-2019.de for further information! There is a reduced fee if registration is made before April 1st 2019.
Genetics: European molecular quality network (EMQN)
/The European molecular quality network (EMQN) are excited to announce that they are introducing a brand new External Quality Assessment (EQA) scheme in 2019 for laboratories performing analysis of variants in the RYR1 gene for related myopathies and malignant hyperthermia susceptibility.
As the 2019 scheme is a pilot scheme, the scheme is subsidised and there is a reduced cost of £100 for registration. Participation is available for 30 laboratories for the 2019 RYR1 pilot scheme, registration is now open and will close on the 30th November 2018.
The RYR1 EQA scheme is designed to test the whole analytical process. Three DNA samples will be distributed to participating laboratories in January 2019 for genetic analysis with case scenarios, the samples are suitable for sequencing and copy number analysis. Clinical reports from the participating laboratories will be evaluated for three elements; genotyping, interpretation, and clerical accuracy by a panel of expert peer assessors.
This is the first EQA scheme offered for RYR1 testing, and we look forward to working with laboratories to harmonise and improve the quality of RYR1 testing globally.
Please see the EMQN website (https://www.emqn.org) or contact office@emqn.org for further information.
Diagnostic mutations - corrections
/Unfortunately there were a couple of mistakes in the recently published list.
The changes are:
- p.Glu3104Lys (was mislabeled as 3004 instead of 3104)
- c.7042_7044del (was mislabeled)
- c.1589G>A p.Arg530His (was dropped from the list)
in memoriam of Frank Lehmann-Horn
/We have the sad duty to inform you, that Prof. Dr. Dr. hc Dipl Ing Frank Lehmann-Horn has passed away on May 8th 2018. His colleagues have written an obituary.
2019 annual meeting
/Preliminary information on the 2019 annual meeting has been added.
New diagnostic mutations
/The following diagnostic mutations have been added to the list
| Exon | Nucleotide | Aminoacid |
|---|---|---|
| 2 | c.130C>T | p.Arg44Cys |
| 11 | c.982C>T | p.Arg328Trp |
| 11 | c.1021G>C | p.Gly341Arg |
| 15 | c.1597C>T | p.Arg533Cys |
| 15 | c.1598G>A | p.Arg533His |
| 47 | c.7522C>A | p.Arg2508Gly |
Annual meeting detailed program
/The detailed program of the EMHG annual meeting is now online!
Annual meeting registration closed
/The good news is that we have a lot of registrations for the 2018 annual meeting in Ferrara. The bad news is that therefore registration had to be closed by the end of March.
Annual meeting abstract deadline extended
/The deadline for abstract submission has been extended until March 31st 2018.
So go ahead, write your abstract and submit it! For details visit this page.
Newsletter 2018
/
Please find attached the 2018 newsletter of the EMHG. And remember, that registration for the annual meeting is open (and reduced fees are available until February 28th).
Register for 2018 Annual meeting
/The information for the 2018 annual meeting is online.
Please note that you should book your accommodation as soon as possible and that registration fees are reduced until February 28th 2018.
Welcome to the new website
/Welcome to the new website of the EMHG. Have fun exploring the new look and functionality.
Currently the 'genetic browser' (searching RYR1) is not available. This will be made available in a future update.
You are free to comment on the new website.
Young Investigator Research Grants
/The EMHG is pleased to announce a new possibility for smaller research grants.
Applications are invited for EMHG Young Investigator Research Grants which are intended for researchers seeking smaller amounts of money to undertake projects of relatively modest size.
New diagnostic mutations
/The list of diagnostic mutations has just been expanded and now totals to 42. Those just added are:
| # | Exon | Nucleotide | Aminoacid |
|---|---|---|---|
| 7 | 12 | c.1201C>T | p.401Arg>Cys |
| 20 | 44 | c.7042_7044del | p.2348Gln>del |
| 22 | 44 | c.7063C>T | p.2355Arg>Trp |
| 34 | 63 | c.9310G>A | p.3104Glu>Lys |
| 35 | 84 | c.11969G>T | p.3990Gly>Val |
| 40 | 101 | c.14545G>A | p.4849Val>Ile |
