Minutes of EGG-UK Meeting
10th January 2003
Chairman: Alan Bird, Professor of Clinical Ophthalmology,
London
Invited/Attended:
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Barnes
Kathy, Cambridge |
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Bird
Alan Prof Clin Ophthalmol, London |
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Black
Graeme Hon Cons Clin Genet/Ophth |
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Chong
Victor, Con Ophth, London |
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Churchill Amanda Hon Con Ophth/Sen Lect, Bristol |
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Clancey
Tara Genetics Counsellor, Manchester |
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Downes
Susan Con Ophth, Oxford |
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Elston
John, Con Ophth, Oxford |
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Ellis
Rob, Genetics Services, Manchester |
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Fantato
Alexina Clin Nurse, Oxford |
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Gregory-Evans Kevin Reader Clin Ophth, London |
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Lotery
Andrew Prof Clin Ophth, Southampton |
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Lynch
Sally Ann, Cons Clin Genet, Newcastle |
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Pilz
Daniella Cons Clin Genet, Cardiff |
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Ragge
Nikki, Hon Cons, London |
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Russell-Eggitt Isabelle Con Ophth, London |
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Seller
Anneke Genetics Services, Oxford |
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Stewart
Helen Cons Clin Genet |
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Temple
Karen Cons Clin Genet/SLect |
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Trump
Dorothy Prof Clin Genetics |
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Votruba
Marcela Con Ophth, London |
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Webster
Andrew, Hon Con Ophth/Sen Lect |
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Wright
Alan Prof Genetics |
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Williams
Denise Cons Clin Genet Birmingham |
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Winchester Lizzie, Clin Genet Nurse, London |
Apologies:
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Moore
Tony Professor of Clinical Ophthalmology, London |
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Chong
Victor Con Ophth, London |
Presentations as per Programme
Programme awaits retrieval....
Summary of current status of analysis of specific genes in the
UK
Manchester NHS Reference Genetics Laboratory:
- TIMP-3 in Sorsby macular dystrophy
- RP2 and RPGR (RP3) - presently to confirm mutations in affected males already
analysed through research programmes and planned later for families with segregation and clinical features
consistent with XL-recessive inheritence.
- PRPF31 (RP11 - ADRP showing non-penetrance) presently to confirm families with
known PRPF31 mutations.
Cambridge Regional Genetics Laboratory:
- RS1 - X-linked retinoschisis
Other genes discussed and throught to be important for testing in
NHS laboratories:
- Stargardt - discussion of peculiar difficulties in analysing ABCA4
- Choroideremia
- ADRP (Rhodopsin and peripherin)
- Leber amaurosis genes - CRX, RetGC (GUCY2D), RPE65
- Developmental genes NDP, SOX2, PAX2
Agreement to set up EGG-UK and convene regularly (at least
annually).
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