UKGTN Testing Criteria

Transcription

1 UKGTN Testing Criteria Approved name and symbol of disease/condition(s): Retinal Degeneration panel test Approved name and symbol of gene(s): a panel of 105 genes, variants of which have been shown to be causative of Retinal Degeneration conditions OMIM number(s): OMIM number(s): Patient name: Patient postcode: Date of birth: NHS number: Name of referrer: Title/Position: Lab ID: Referrals will only be accepted from one of the following: Referrer Consultant Clinical Geneticists Consultant Ophthalmologist with special interest in retinal disorders Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier: Criteria The minimum criteria for acceptance is that the index case: has been diagnosed as a result of symptoms of initial rod dysfunction followed by peripheral cone dysfunction OR a characteristic retinal appearance OR characteristic ERG. X linked RP Autosomal Dominant RP Autosomal Recessive RP Sporadic Tick if this patient meets criteria Additional Information: Please note that if the diagnosis is probable/definite and there is a single gene test for that condition, the clinician may prefer to carry out the single gene test rather than the panel test. For example Retinoschisis (available from Cambridge), Stargardt (available from Oxford), Bardet Biedl (available from Great Ormond Street) and X-linked RP as single test available from Manchester If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample

2 Appendix 1 Conditions included in the panel Gene HGNC Phenotype Phenotype OMIM # Gene/locus OMIM # CA4 Retinitis pigmentosa 17 # * CERKL Retinitis pigmentosa 26 # * CNGA1 Retinitis pigmentosa 49 # * CNGB1 Retinitis pigmentosa 45 # * CRB1 Leber congenital amaurosis 8 # * Pigmented paravenous chorioretinal atrophy # Retinitis pigmentosa 12, autosomal recessive # CRX Cone rod retinal dystrophy 2 # * Leber congenital amaurosis 7 # EYS Retinitis pigmentosa 25 # * FSCN2 Retinitis pigmentosa 30 # * GUCA1B Retinitis pigmentosa 48 # * IDH3B Retinitis pigmentosa 46 # * IMPDH1 Leber congenital amaurosis 11 # * Retinitis pigmentosa 10 # KLHL7 Retinitis pigmentosa 42 # * MERTK Retinitis pigmentosa 38 # * NR2E3 Enhanced S cone syndrome # * Retinitis pigmentosa 37 # NRL Retinal degeneration, autosomal recessive, clumped pigment type Retinitis pigmentosa 27 # RP1 Retinitis pigmentosa 1 # * RP9 Retinitis pigmentosa 9 # * PDE6A Retinitis pigmentosa 43 # * PDE6B Night blindness, congenital stationary, autosomal # * dominant 2 Retinitis pigmentosa 40 # PRCD Retinitis pigmentosa 36 # * PROM1 Cone rod dystrophy 12 # * Macular dystrophy, retinal, 2 # Retinitis pigmentosa 41 # Stargardt disease 4 # PRPF3 Retinitis pigmentosa 18 # * PRPF31 Retinitis pigmentosa 11 # *606419

3 PRPF8 Retinitis pigmentosa 13 # * PRPH2 Choriodal dystrophy, central areolar 2 # * Foveomacular dystrophy, adult onset, with choroidal # neovascularization Macular dystrophy, patterned # Macular dystrophy, vitelliform # Retinitis pigmentosa 7 # Retinitis pigmentosa, digenic # Retinitis punctata albescens # RGR Retinitis pigmentosa 44 # * RGS9 Bradyopsia # * RHO Night blindness, congenital stationery, autosomal # * dominant 1 Retinitis pigmentosa 4, autosomal dominant or # recessive Retinitis punctata albescens # RLBP1 Bothnia retinal dystrophy # * Fundus albipunctatus # Newfoundland rod cone dystrophy # Retinitis punctata albescens # ROM1 Retinitis pigmentosa 7, digenic # * RP2 Retinitis pigmentosa 2 # * RPE65 Leber congenital amaurosis 2 # * Retinitis pigmentosa 20 # RPGR* Cone rod dystrophy 1 # * Macular degeneration, X linked atrophic # Retinitis pigmentosa 3 # Retinitis pigmentosa, X linked, and sinorespiratory # infections, with or without deafness SAG Oguchi disease 1 # * Retinitis pigmentosa 47 # SEMA4A Cone rod dystrophy 10 # * Retinitis pigmentosa 35 # TOPORS Retinitis pigmentosa 31 # * TTC8 Bardet Biedl syndrome 8 # * Retinitis pigmentosa 51 # TULP1 Leber congenital amaurosis 15 # * Retinitis pigmentosa 14 # CEP290 Bardet Biedl syndrome 14 # * Joubert syndrome 5 # Leber congenital amaurosis 10 # Meckel syndrome type 4 # Senior Loken syndrome 6 #610189

4 AIPL1 Cone rod dystrophy # * Leber congenital amaurosis 4 # Retinitis pigmentosa, juvenile # GUCY2D Cone rod dystrophy 6 # * Leber congenital amaurosis 1 # LCA5 Leber congenital amaurosis 5 # * LRAT Leber congenital amaurosis 14 # * Retinal dystrophy, early onset severe # Retinitis pigmentosa, juvenile # RD3 Leber congenital amaurosis 12 # * RDH12 Leber congenital amaurosis 13 # * SPATA7 Leber congenital amaurosis 3 # * Retinitis pigmentosa, juvenile, autosomal recessive # ADAM9 Cone rod dystrophy 9 # * CACNA2D4 Retinal cone dystrophy 4 # * KCNV2 Retinal cone dystrophy 3B # * RIMS1 Cone rod dystrophy 7 # * RPGRIP1 Cone rod dystrophy 13 # * Leber congenital amaurosis 6 # UNC119 Cone rod dystrophy C1QTNF5 Retinal degeneration, late onset, autosomal dominant # * BEST1 Best macular dystrophy # * Bestrophinopathy # Microcornea, rod cone dystrophy, cataract, and # posterior staphyloma Retinitis pigmentosa, concentric # Retinitis pigmentosa 50 # Vitelliform macular dystrophy, adult onset # Vitreoretinochoroidopathy # ABCA4 Cone rod dystrophy 3 # * Fundus flavimaculatus # Macular degeneration, age related, 2 # Retinal dystrophy, early onset severe # Retinitis pigmentosa 19 # Stargardt disease 1 # CHM Choroideremia # * ELOVL4 Macular dystrophy, autosomal dominant, chromosome # * linked Stargardt disease 3 # CNGA3 Achromatopsia 2 # * CNGB3 Achromatopsia 3 # * Macular degeneration, juvenile # GNAT2 Achromatopsia 4 # * PDE6C Cone dystrophy 4 # * RS1 Retinoschisis # *300839

5 FZD4 Exudative vitreoretinopathy # * Retinopathy of prematurity # LRP5 Exudative vitreoretinopathy 4 # * NDP Exudative vitreoretinopathy, X linked # * Norrie disease # GUCA1A Cone dystrophy 3 # * Cone rod dystrophy 14 # TIMP3 Sorsby fundus dystrophy # * EFEMP1 Doyne honeycomb degeneration of retina # * RDH5 Fundus albipunctatus # * TEAD1 Sveinsson choreoretinal atrophy # * RAX2 Cone rod dystrophy 11 # * Macular degeneration, age related, 6 # CLRN1 Retinitis pigmentosa 61 # * Usher syndrome, type 3A # ARL6 Bardet Biedl syndrome 3 # * Retinitis pigmentosa 55 # BBS1 Bardet Biedl syndrome 1 # * BBS10 Bardet Biedl syndrome 10 # * BBS12 Bardet Biedl syndrome 12 # * BBS2 Bardet Biedl syndrome 2 # * BBS4 Bardet Biedl syndrome 4 # * BBS5 Bardet Biedl syndrome 5 # * BBS7 Bardet Biedl syndrome 7 # * BBS9 Bardet Biedl syndrome 9 # * MKKS Bardet Biedl syndrome 6 # * McKusick Kaufman syndrome # TRIM32 Bardet Biedl syndrome 11 # * DFNB31 Deafness, autosomal recessive 31 # * Usher syndrome, type 2D # GPR98 Usher syndrome, type 2C # * PCDH15 Deafness, autosomal recessive 23 # * Usher syndrome, type 1D/F digenic # Usher syndrome, type 1F # USH2A Retinitis pigmentosa 39 # * Usher syndrome, type 2A # CDH23 Deafness, autosomal recessive 12 # * Usher syndrome, type 1D # Usher syndrome, type 1D/F digenic # MYO7A Deafness, autosomal dominant 11 # * Deafness, autosomal recessive 2 # Usher syndrome, type 1B # USH1C Deafness, autosomal recessive 18 # * Usher syndrome, type 1C # USH1G Usher syndrome, type 1G # * FAM161A Retinitis pigmentosa 28 # *613596

6 C2orf71 Retinitis pigmentosa 54 # * IMPG2 Maculopathy, IMPG2 related # * Retinitis pigmentosa 56 # PDE6G Retinitis pigmentosa 57 # * SNRNP200 Retinitis pigmentosa 33 # * RBP3 Autosomal Recessive Retinitis pigmentosa None given * ZNF513 Retinitis pigmentosa 58 # * CDHR1 Cone rod dystrophy 15 # * RP1L1 Occult macular dystrophy # * OTX2 Microphthalmia, syndromic 5 # * Pituitary hormone deficiency, combined, 6 # Retinal dystrophy, early onset, and pituitary # dysfunction DHDDS Retinitis pigmentosa 59 # * PITPNM3 Cone rod dystrophy 5 # * MKS1 Bardet Biedl syndrome 13 # * Meckel syndrome, type 1 # PRPF6 Retinitis pigmentosa 60 # * UNC119 Cone rod dystrophy

7 Appendix 2 - Genes included in the next generation sequencing assay HGNC Transcript HGNC Transcript HGNC Transcript CA4 NM_ RLBP1 NM_ ELOVL4 NM_ CERKL NM_ ROM1 NM_ CNGA3 NM_ CNGA1 NM_ RP2 NM_ CNGB3 NM_ CNGB1 NM_ RPE65 NM_ GNAT2 NM_ CRB1 NM_ RPGR* NM_ PDE6C NM_ CRX NM_ SAG NM_ RS1 NM_ EYS NM_ SEMA4A NM_ FZD4 NM_ FSCN2 NM_ TOPORS NM_ LRP5 NM_ GUCA1B NM_ TTC8 NM_ NDP NM_ IDH3B NM_ TULP1 NM_ GUCA1A NM_ IDH3B NM_ CEP290 NM_ TIMP3 NM_ IMPDH1 NM_ AIPL1 NM_ EFEMP1 NM_ KLHL7 NM_ GUCY2D NM_ RDH5 NM_ MERTK NM_ LCA5 NM_ TEAD1 NM_ NR2E3 NM_ LRAT NM_ RAX2 NM_ NRL NM_ RD3 NM_ CLRN1 NM_ RP1 NM_ RDH12 NM_ CLRN1 NM_ RP9 NM_ SPATA7 NM_ ARL6 NM_ PDE6A NM_ ADAM9 NM_ BBS1 NM_ PDE6B NM_ CACNA2D4 NM_ BBS10 NM_ PRCD NM_ KCNV2 NM_ BBS12 NM_ PROM1 NM_ RIMS1 NM_ BBS2 NM_ PRPF3 NM_ RIMS1 NM_ BBS4 NM_ PRPF31 NM_ RIMS1 NM_ BBS5 NM_ PRPF8 NM_ RPGRIP1 NM_ BBS7 NM_ PRPH2 NM_ UNC119 NM_ BBS7 NM_ RGR NM_ C1QTNF5 NM_ BBS9 NM_ RGS9 NM_ BEST1 NM_ MKKS NM_ RGS9 NM_ ABCA4 NM_ TRIM32 NM_ RHO NM_ CHM NM_ DFNB31 NM_ GPR98 NM_ CDH23 NM_ IMPG2 NM_ PCDH15 NM_ MYO7A NM_ PDE6G NM_ PCDH15 NM_ USH1C NM_ SNRNP200 NM_ PCDH15 NM_ USH1C NM_ RBP3 NM_ PCDH15 NM_ USH1G NM_ ZNF513 NM_ USH2A NM_ FAM161A NM_ CDHR1 NM_ RP1L1 NM_ PITPNM3 NM_ MKS1 NM_ OTX2 NM_ MKS1 NM_ PRPF6 NM_ DHDDS NM_ Notes: (1) For some genes the analysis of multiple transcripts is required. (2) * For RPGR it is not possible to obtain high quality read for exon ORF15. Consequently this analysis is offered separately on request further details are available at:

8 Appendix 3 - Test strategy Test Criteria Clearly X linked Other referral indication ORF 15 test 105 gene panel test ORF 15 mutation Report No ORF 15 mutation (an additional request is required from referring clinician) Report