Alport Mutation Meeting


Date: Feb 06-07, 2020

Time: Feb 06 (Thu) 1-5 pm, Feb 07 (Fri) 9-5 pm

Location: Chandos House, 2 Queen Anne St, Marylebone, London (part of the Royal Society of Medicine)


Description

A two-day meeting of the International Alport Mutation Collaborative will take place in London (UK) on February 6/7, 2020

 

The provisional program of the meeting will cover various topics and will include:

- Update on extended phenotype of Alport syndrome -FSGS, cystic kidney disease, IgA nephropathy. 

- Review of Alport variant databases - LOVD, ARUP, ClinVar, HGMD.

- Current recommendations for testing; Genes to be tested; What to do when no mutation is found; Functional assays, Splicing assays - extending the splice region; Testing for mosaisicm; ClinGen - aims and overlap; ACMG criteria as used for Alport syndrome.

- Mutational hotspot in the Alport genes; Assessment of hotspot variants in normal and disease databases; Correlation of variants with hematuria; Founder mutations; Genetic modifiers; Decisions on pathogenicity of difficult variants - COL4A5, COL4A3 and COL4A4; Decisions on pathogenicity of Glycolic and non-Gly variants.

 

Registration fee: £30.- (pay on the day)

Register by February 1, 2020 via E-mail: j.savige@unimelb.edu.au (Judy Savige)


Download iCal-File (.ics)

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