UKGTN Testing Criteria

Transcription

1 Test name: Congenital Cataract 108 Gene Panel UKGTN Testing Criteria Approved name and symbol of disorder/condition(s): Congenital Cataract 108 Gene Panel See Appendix 1 Approved name and symbol of gene(s): See Appendix 2 (s): See Appendix 1 (s): See Appendix 2 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 Geneticist Consultant Ophthalmologist Consultant Paediatrician Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier: Criteria This panel test is not designed to replace existing Sanger tests, which should be the first choice when investigating a specific clinical diagnosis. The minimum criteria for acceptance is that the index case has been diagnosed with congenital cataract & does not have features consistent of a known single gene syndrome Please indicate if suspected diagnosis is: Autosomal dominant Autosomal recessive X-linked Tick if this patient meets criteria Additional Information: For panel tests: At risk family members where familial mutation is known do not require a full panel test but should be offered analysis of the known mutation. Please indicate that finding a pathological mutation in the index case is likely to lead to family testing and/or genetic risk assessment and/or treatment. 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 Testing Criteria Appendix 1 Conditions in panel test OMIM standard name of condition and symbol [Bone mineral densityvariability 1] MIMID MIMID: {Blood group Ii] MIMID: methylglutaconic aciduria type III Achondrogenesis type II or hypochondrogenesis MIMID: Acromicric dysplasia MIMID: Adrenoleukodystrophy neonatal MIMID: Adult i phenotype with congenital cataract MIMID: Angiopathy hereditary with nephropathy aneurysms and muscle MIMID: Aniridia MIMID: Anterior segment anomalies with or without cataract MIMID: Anterior segment mesenchymal dysgenesis MIMID: Aortic aneurysm ascending Aphakia congenital primary MIMID: Atrioventricular septal defect 3 MIMID: Avascular necrosis of the femoral head MIMID: Axenfeld-Rieger syndrome type 1 MIMID: Axenfeld-Rieger syndrome type 3 MIMID: Baller-Gerold syndrome MIMID: Basal cell carcinoma somatic MIMID: Basal cell nevus syndrome MIMID: bilateral congenital cataract, CNS abnormalities, developmental delay Brain small vessel disease with Axenfeld-Riegeranomaly MIMID: Branchiooculofacial syndrome MIMID: Branchiootic syndrome 1 MIMID: Branchiootorenal syndrome 1 with or without cataracts MIMID: Branchiootorenal syndrome 2 MIMID MIMID: Cardiomyopathy dilated 1X MIMID: Cataract age-relatedcortical 2 MIMID: Cataract autosomal dominant multiple types 1 MIMID: Cataract autosomal recessive congenital 2 MIMID: Cataract autosomal recessive congenital 4 MIMID: Cataract cerulean type 2 MIMID: Cataract congenital MIMID: Cataract congenital cerulean type 3 MIMID: Cataract congenital nuclear 2 MIMID MIMID: Cataract congenital nuclear autosomalrecessive 3 MIMID: Cataract congenital X-linked MIMID: Cataract congenital zonular with sutural opacities MIMID: Cataract Coppock-like MIMID: Cataract cortical juvenile-onset MIMID: Cataract crystalline aculeiform MIMID: Cataract juvenile with microcornea and glucosuria MIMID: Cataract juvenile-onset MIMID: Cataract lamellar MIMID: Cataract lamellar 2 MIMID: Cataract Marner type MIMID: Cataract nonnuclear polymorphic congenital MIMID: Cataract polymorphic and lamellar MIMID: Cataract posterior polar 1 MIMID:

3 OMIM standard name of condition and symbol Cataract posterior polar 2 MIMID: Cataract posterior polar 3 MIMID: Cataract posterior polar 4 MIMID: Cataract pulverulent or cerulean with or without microcornea MIMID: Cataract sutural with punctate and cerulean opacities MIMID MIMID: Cataract with late-onset corneal dystrophy MIMID: Cataract zonular central nuclear Cataract zonular pulverulent-1 MIMID: Cataract zonular pulverulent-3 MIMID: Cataract-microcornea syndrome MIMID: Cataracts punctate Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 MIMID: Cerebrooculofacioskeletal syndrome 1 MIMID: Cerebrotendinous xanthomatosis MIMID: Chondrodysplasia punctata rhizomelic type 2 MIMID: Cockayne syndrome type A MIMID: Cockayne syndrome type B MIMID: Coloboma ocular MIMID: Coloboma of optic nerve MIMID: Congenital cataract, microcornea, corneal opacity, congenital glaucoma Congenital cataracts hearing loss and neurodegeneration MIMID MIMID: Congenital disorder of glycosylation type Iq MIMID: Craniolenticulosutural dysplasia MIMID: Cutis laxa autosomal recessive type IIIA MIMID: Czech dysplasia MIMID: De Sanctis-Cacchione syndrome MIMID: Dent disease 2 MIMID MIMID: Ectopia lentis familial MIMID: EDICT syndrome MIMID: Epiphyseal dysplasia multiple with myopia and deafness MIMID: Exudative vitreoretinopathy MIMID: Exudative vitreoretinopathy 4 MIMID: Fechtner syndrome MIMID: Foveal hyperplasia MIMID: Galactokinase deficiency with cataracts MIMID: Galactosemia MIMID MIMID: Geleophysic dysplasia 2 MIMID: Gillespie syndrome MIMID: Glaucoma 3 primary congenital D MIMID: GLUT1 deficiency syndrome 1 MIMID: GLUT1 deficiency syndrome2 MIMID: Hallermann-Streiff syndrome MIMID: Holoprosencephaly-2 MIMID: Holoprosencephaly-7 MIMID MIMID: Homocystinuria B6-responsive and nonresponsive types MIMID: Hyperferritinemia-cataract syndrome MIMID: Hyperostosis endosteal MIMID: Hypoplastic left heart syndrome 1 MIMID: Iridogoniodysgenesis type 1 MIMID: Iridogoniodysgenesis type 2 MIMID: Iris hypoplasia and glaucoma MIMID: Kahrizi syndrome MIMID:

4 OMIM standard name of condition and symbol Keratitis MIMID MIMID: Kniest dysplasia MIMID: Knobloch syndrome type 1 MIMID: Lathosterolosis MIMID: Legg-Calve-Perthes disease MIMID: Leukodystrophy hypomyelinating 5 MIMID: Lowe syndrome MIMID: Lung cancer, susceptibility to MIMID: Macular degeneration, age-related, susceptibility to 5 MIMID: Marfan syndrome MIMID: Marinesco-Sjogren syndrome MIMID: Martsolf syndrome MIMID MIMID: MASS syndrome MIMID: Meningioma NF2-related somatic MIMID: Microphthalmia syndromic 2 MIMID: Microphthalmia syndromic 3 MIMID MIMID: Microphthalmia syndromic 5 MIMID: Microphthalmia syndromic 7 MIMID: Microphthalmia with cataract 1 MIMID: Microphthalmia with cataract 2 MIMID MIMID: Microphthalmia with cataract 4 MIMID: Microphthalmia with cataract and coloboma 3 MIMID: Microspherophakiaand/or megalocornea with ectopia lentis and with or without secondary glaucoma MIMID: Morning glory disc anomaly MIMID: eyeanomalies) type A 1 MIMID: eyeanomalies) type A 2 MIMID: eyeanomalies) type A 4 MIMID: eyeanomalies) type A 5 MIMID: eyeanomalies) type A 6 MIMID: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 1 MIMID: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 2 MIMID: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 6 MIMID MIMID: Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B 5 MIMID: Muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B 4 MIMID: Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 MIMID: Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 MIMID MIMID: Musculardystrophy-dystroglycanopathy (limb-girdle) type C 1 MIMID: Musculardystrophy-dystroglycanopathy (limb-girdle) type C 2 MIMID MIMID: Myopathy myofibrillar alpha-b crystallin-related MIMID: Myopathy myofibrillar fatal infantile hypertrophy alpha-b crystallin-related MIMID: Nail-patella syndrome MIMID: Nance-Horan syndrome MIMID:

5 OMIM standard name of condition and symbol Neurodegenerationwith brain iron accumulation 3 MIMID: Neurofibromatosis type 2 MIMID: Oculoauricular syndrome MIMID: Oculodentodigital dysplasia MIMID: Oculodentodigital dysplasia autosomal recessive MIMID: Optic atrophy3 with cataract MIMID: Optic nerve hypoplasiaand abnormalities of the central nervous system MIMID: Optic nervehypoplasia MIMID: Osteoarthritis with mild chondrodysplasia MIMID: Osteopetrosis autosomal dominant 1 MIMID: Osteoporosis MIMID: Osteoporosis-pseudoglioma syndrome MIMID: Osteosclerosis MIMID: Otofaciocervical syndrome MIMID: Otospondylomegaepiphyseal dysplasia MIMID: Peroxisome biogenesis disorder 3A (Zellweger) MIMID: Peroxisome biogenesis disorder 4A (Zellweger) MIMID: Peroxisome biogenesis disorder 5A (Zellweger) MIMID: Peters anomaly MIMID: Peters-plus syndrome MIMID: Pituitary hormonedeficiency combined 6 MIMID: Platyspondylic skeletal dysplasia Torrance type MIMID: Porencephaly 1 MIMID: RAPADILINO syndrome MIMID: Refsum disease infantile MIMID: Refsumdisease MIMID: Retinal dystrophy early-onset and pituitary dysfunction MIMID: Retinopathy of prematurity MIMID: Rhizomelic chondrodysplasia punctata type 1 MIMID: Rhizomelic chondrodysplasia punctata type 3 MIMID: Rieger or Axenfeldanomalies MIMID: Ring dermoid of cornea MIMID: Roberts syndrome MIMID: Rothmund-Thomson syndrome MIMID: SC phocomelia syndrome MIMID: Schizensephaly MIMID: Schwannomatosis MIMID: SED congenita MIMID: Sengers syndrome MIMID: Shprintzen-Goldberg syndrome MIMID: SMED Strudwick type MIMID: Smith-Lemli-Opitz syndrome MIMID: Spastic paraplegia 42 autosomal dominant MIMID: Spondyloperipheral dysplasia MIMID: Stickler sydrome type I nonsyndromic ocular MIMID: Stickler syndrome type I MIMID: Stiff skin syndrome MIMID: Syndactyly type III MIMID: Thrombosis hyperhomocysteinemic MIMID: UV-sensitive syndrome 2 MIMID: UV-sensitivesyndrome 1 MIMID: van Buchem disease type 2 MIMID: variable zonularpulverulent

6 OMIM standard name of condition and symbol Vitreoretinopathy with phalangeal epiphyseal dysplasia MIMID: Warburg micro syndrome 1 MIMID: Warburg micro syndrome 2 MIMID: Warburg micro syndrome 3 MIMID: Weill-Marchesani syndrome 1 recessive MIMID: Weill-Marchesani syndrome 2 dominant MIMID: Werner syndrome MIMID: Zellweger syndrome MIMID: Zellweger syndrome MIMID:

7 Testing Criteria Appendix 2 Genes in panel test HGNC standard name and symbol of the gene HGNC number ADAM metallopeptidase with thrombospondin type 1 motif, 10 ADAMTS10 HGNC: acylglycerol kinase AGK HGNC: alkylglycerone phosphate synthase AGPS HGNC: aldehyde dehydrogenase 18 family, member A1 ALDH18A1 HGNC: beta 1,3-galactosyltransferase-like B3GALTL HGNC: BCL6 corepressor BCOR HGNC: bestrophin 1 BEST1 HGNC: beaded filament structural protein 1, filensin BFSP1 HGNC: beaded filament structural protein 2, phakinin BFSP2 HGNC: BUB1 mitotic checkpoint serine/threonine kinase B BUB1B HGNC: cystathionine-beta-synthase CBS HGNC: cyclin-dependent kinase inhibitor 2A CDKN2A HGNC: charged multivesicular body protein 4B CHMP4B HGNC: collagen, type XVIII, alpha 1 COL18A1 HGNC: collagen, type II, alpha 1 COL2A1 HGNC: collagen, type IV, alpha 1 COL4A1 HGNC: crystallin, alpha A CRYAA HGNC: crystallin, alpha B CRYAB HGNC: crystallin, beta A1 CRYBA1 HGNC: crystallin, beta A4 CRYBA4 HGNC: crystallin, beta B1 CRYBB1 HGNC: crystallin, beta B2 CRYBB2 HGNC: crystallin, beta B3 CRYBB3 HGNC: crystallin, gamma A CRYGA HGNC: crystallin, gamma B CRYGB HGNC: crystallin, gamma C CRYGC HGNC: crystallin, gamma D CRYGD HGNC: crystallin, gamma F pseudogene CRYGFP HGNC: crystallin, gamma S CRYGS HGNC: cytochrome P450, family 27, subfamily A, polypeptide 1 CYP27A1 HGNC: dehydrocholesterol reductase DHCR7 HGNC: EPH receptor A2 EPHA2 HGNC: excision repair cross-complementing rodent repair deficiency, complementation group 6 ERCC6 HGNC: excision repair cross-complementing rodent repair deficiency, complementation group 8 ERCC8 HGNC: establishment of cohesion 1 homolog 2 (S. cerevisiae) ESCO2 HGNC: eyes absent homolog 1 (Drosophila) EYA1 HGNC: family with sequence similarity 126, member A FAM126A HGNC: fibrillin 1 FBN1 HGNC: fukutin related protein FKRP HGNC: fukutin FKTN HGNC: filamin B, beta FLNB HGNC: forkhead box C1 FOXC1 HGNC: forkhead box E3 FOXE3 HGNC: ferritin, light polypeptide FTL HGNC: FYVE and coiled-coil domain containing 1 FYCO1 HGNC:

8 HGNC standard name and symbol of the gene HGNC number frizzled family receptor 4 FZD4 HGNC: galactokinase 1 GALK1 HGNC: galactose-1-phosphate uridylyltransferase GALT HGNC: glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) GCNT2 HGNC: gap junction protein, alpha 1, 43kDa GJA1 HGNC: gap junction protein, alpha 3, 46kDa GJA3 HGNC: gap junction protein, alpha 8, 50kDa GJA8 HGNC: gap junction protein, epsilon 1, 23kDa GJE1 HGNC: gap junction protein, gamma 3, 30.2kDa GJC3 HGNC: glyceronephosphate O-acyltransferase GNPAT HGNC: holocytochrome c synthase HCCS HGNC: H6 family homeobox 1 HMX1 HGNC: heat shock transcription factor 4 HSF4 HGNC: like-glycosyltransferase LARGE HGNC: lactase LCT HGNC: LIM homeobox transcription factor 1, beta LMX1B HGNC: low density lipoprotein receptor-related protein 5 LRP5 HGNC: latent transforming growth factor beta binding protein 2 LTBP2 HGNC: latent transforming growth factor beta binding protein 3 LTBP3 HGNC: v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) MAF HGNC: mannosidase, alpha, class 2B, member 1 MAN2B1 HGNC: major intrinsic protein of lens fiber MIP HGNC: MAFF interacting protein (pseudogene) MAFIP HGNC: transportin 1 TNPO1 HGNC: mitochondrial intermediate peptidase MIPEP HGNC: microrna 184 MIR184 HGNC: matrix metallopeptidase 1 (interstitial collagenase) MMP1 HGNC: myosin, heavy chain 9, non-muscle MYH9 HGNC: neurofibromin 2 (merlin) NF2 HGNC: Nance-Horan syndrome (congenital cataracts and dental anomalies) NHS HGNC: oculocerebrorenal syndrome of Lowe OCRL HGNC: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) OPA3 HGNC: orthodenticle homeobox 2 OTX2 HGNC: paired box 6 PAX6 HGNC: peroxisomal biogenesis factor 1 PEX1 HGNC: peroxisomal biogenesis factor 12 PEX12 HGNC: peroxisomal biogenesis factor 13 PEX13 HGNC: peroxisomal biogenesis factor 16 PEX16 HGNC: peroxisomal biogenesis factor 2 PEX2 HGNC: peroxisomal biogenesis factor 26 PEX26 HGNC: peroxisomal biogenesis factor 3 PEX3 HGNC: peroxisomal biogenesis factor 6 PEX6 HGNC: peroxisomal biogenesis factor 7 PEX7 HGNC: paired-like homeodomain 2 PITX2 HGNC: paired-like homeodomain 3 PITX3 HGNC: protein-o-mannosyltransferase 1 POMT1 HGNC: protein-o-mannosyltransferase 2 POMT2 HGNC: patched 1 PTCH1 HGNC: poliovirus receptor-related 3 PVRL3 HGNC:

9 HGNC standard name and symbol of the gene HGNC number peroxidasin homolog (Drosophila) PXDN HGNC: RAB18, member RAS oncogene family RAB18 HGNC: RAB3 GTPase activating protein subunit 1 (catalytic) RAB3GAP1 HGNC: RAB3 GTPase activating protein subunit 2 (non-catalytic) RAB3GAP2 HGNC: RecQ protein-like 4 RECQL4 HGNC: sterol-c5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like SC5DL HGNC: Sec23 homolog A (S. cerevisiae) SEC23A HGNC: SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) SIL1 HGNC: SIX homeobox 3 SIX3 HGNC: SIX homeobox 5 SIX5 HGNC: SIX homeobox 6 SIX6 HGNC: solute carrier family 16, member 12 (monocarboxylic acid transporter 12) SLC16A12 HGNC: solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A1 HGNC: solute carrier family 33 (acetyl-coa transporter), member 1 SLC33A1 HGNC: small optic lobes homolog (Drosophila) SOLH HGNC: SRY (sex determining region Y)-box 2 SOX2 HGNC: steroid 5 alpha-reductase 3 SRD5A3 HGNC: sterol regulatory element binding transcription factor 2 SREBF2 HGNC: tudor domain containing 7 TDRD7 HGNC: