RetNet panel. Microcornea, myopic chorioretinal atrophy, and telecanthus, (3), Autosomal recessive ADGRA No OMIM phenotype

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1 versie 27-Feb-2018 (266 genen) RetNet panel Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern ABCA Cone-rod dystrophy 3, (3); Fundus flavimaculatus, (3), ; {Macular degeneration, age-related, 2}, (3), Autosomal ; Retinal dystrophy, early-onset severe, (3), ; Retinitis pigmentosa 19, (3), Autosomal ; Stargardt disease 1, (3), ABCC Arterial calcification, generalized, of infancy, 2, (3), Autosomal ; Pseudoxanthoma elasticum, (3), ; Pseudoxanthoma elasticum, forme fruste, (3), Autosomal ABHD Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, (3), ACBD No OMIM phenotype ADAM Cone-rod dystrophy 9, (3) ADAMTS Microcornea, myopic chorioretinal atrophy, and telecanthus, (3), ADGRA No OMIM phenotype ADGRV ?Febrile seizures, familial, 4, (3), Autosomal ; Usher syndrome, type 2C, (3),, Digenic ; Usher syndrome, type 2C, GPR98/PDZD7 digenic, (3), Autosomal, Digenic ADIPOR No OMIM phenotype AGBL Retinitis pigmentosa 75, (3), AHI Joubert syndrome 3, (3), AIPL Cone-rod dystrophy, (3), ; Leber congenital amaurosis 4, (3), ; Retinitis pigmentosa, juvenile, (3), ALMS Alstrom syndrome, (3), ARHGEF Retinitis pigmentosa 78, (3), ARL2BP Retinitis pigmentosa with or without situs inversus, (3), Autosomal ARL No OMIM phenotype ARL {Bardet-Biedl syndrome 1, modifier of}, (3),, Digenic ; Bardet-Biedl syndrome 3, (3), Autosomal ;?Retinitis pigmentosa 55, (3) 1/14

2 ARMS {Macular degeneration, age-related, 8}, (3) ASRGL1 No OMIM gene No OMIM phenotype ATF Achromatopsia 7, (3), ATXN Spinocerebellar ataxia 7, (3), Autosomal BBIP ?Bardet-Biedl syndrome 18, (3), BBS Bardet-Biedl syndrome 1, (3),, Digenic BBS Bardet-Biedl syndrome 10, (3), BBS Bardet-Biedl syndrome 12, (3), BBS Bardet-Biedl syndrome 2, (3), ; Retinitis pigmentosa 74, (3), BBS Bardet-Biedl syndrome 4, (3), BBS Bardet-Biedl syndrome 5, (3), BBS Bardet-Biedl syndrome 7, (3), BBS Bardet-Biedl syndrome 9, (3), BEST C12orf Bestrophinopathy, autosomal, (3); Macular dystrophy, vitelliform, 2, (3), Autosomal ; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, (3), Autosomal ; Retinitis pigmentosa, concentric, (3); Retinitis pigmentosa-50, (3); Vitreoretinochoroidopathy, (3), Autosomal Combined oxidative phosphorylation deficiency 7, (3), Autosomal ; Spastic paraplegia 55, autosomal, (3), C1QTNF C C21orf Retinal degeneration, late-onset, autosomal, (3), Autosomal C2 deficiency, (3), ; {Macular degeneration, age-related, 14, reduced risk of}, (3) Retinal dystrophy with macular staphyloma, (3), Autosomal ; Spondylometaphyseal dysplasia, axial, (3), Autosomal C2orf Retinitis pigmentosa 54, (3) C C8orf C3 deficiency, (3), ; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, (3), Autosomal ; {Macular degeneration, age-related, 9}, (3) Bardet-Biedl syndrome 21, (3), ; Cone-rod dystrophy 16, (3), ; Retinitis pigmentosa 64, (3), CA Retinitis pigmentosa 17, (3), Autosomal CABP Cone-rod synaptic disorder, congenital nonprogressive, (3), 2/14

3 CACNA1F Aland Island eye disease, (3), X-linked; Cone-rod dystrophy, X- linked, 3, (3), X-linked ; Night blindness, congenital stationary (incomplete), 2A, X-linked, (3), X-linked CACNA2D Retinal cone dystrophy 4, (3), CAPN Vitreoretinopathy, neovascular inflammatory, (3), Autosomal CC2D2A COACH syndrome, (3), ; Joubert syndrome 9, (3), ; Meckel syndrome 6, (3), CCT No OMIM phenotype CDH CDH Deafness, autosomal 12, (3), ; {Pituitary adenoma, susceptibility to}, (3), Autosomal ; Usher syndrome, type 1D, (3),, Digenic ; Usher syndrome, type 1D/F digenic, (3), Autosomal, Digenic Ectodermal dysplasia, ectrodactyly, and macular dystrophy, (3), ; Hypotrichosis, congenital, with juvenile macular dystrophy, (3), CDHR Cone-rod dystrophy 15, (3), ; Retinitis pigmentosa 65, (3), CEP Nephronophthisis 15, (3), CEP No OMIM phenotype CEP ?Bardet-Biedl syndrome 14, (3), ; Joubert syndrome 5, (3), ; Leber congenital amaurosis 10, (3); Meckel syndrome 4, (3), ; Senior-Loken syndrome 6, (3), CEP Cone-rod dystrophy and hearing loss, (3), CERKL Retinitis pigmentosa 26, (3) CFB ?Complement factor B deficiency, (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, (3), Autosomal ; {Macular degeneration, age-related, 14, reduced risk of}, (3) CFH Basal laminar drusen, (3), Autosomal ; Complement factor H deficiency, (3),, Autosomal ; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, (3),, Autosomal ; {Macular degeneration, age-related, 4}, (3) CHM Choroideremia, (3), X-linked CIB Deafness, autosomal 48, (3), ; Usher syndrome, type IJ, (3), CLN Ceroid lipofuscinosis, neuronal, 3, (3), CLRN Retinitis pigmentosa 61, (3); Usher syndrome, type 3A, (3), 3/14

4 CLUAP No OMIM phenotype CNGA Retinitis pigmentosa 49, (3) CNGA Achromatopsia 2, (3), CNGB Retinitis pigmentosa 45, (3), CNGB Achromatopsia 3, (3), ; Macular degeneration, juvenile, (3), CNNM Jalili syndrome, (3), COL11A Fibrochondrogenesis 1, (3), ; {Lumbar disc herniation, susceptibility to}, (3); Marshall syndrome, (3), Autosomal ; Stickler syndrome, type II, (3), Autosomal COL2A Achondrogenesis, type II or hypochondrogenesis, (3), Autosomal ; Avascular necrosis of the femoral head, (3), Autosomal ; Czech dysplasia, (3), Autosomal ; Epiphyseal dysplasia, multiple, with myopia and deafness, (3), Autosomal ; Kniest dysplasia, (3), Autosomal ; Legg-Calve- Perthes disease, (3), Autosomal ; Osteoarthritis with mild chondrodysplasia, (3), Autosomal ; Platyspondylic skeletal dysplasia, Torrance type, (3), Autosomal ; SED congenita, (3), Autosomal ; SMED Strudwick type, (3), Autosomal ; Spondyloepiphyseal dysplasia, Stanescu type, (3), Autosomal ; Spondyloperipheral dysplasia, (3), Autosomal ; Stickler sydrome, type I, nonsyndromic ocular, (3), Autosomal ; Stickler syndrome, type I, (3), Autosomal ; Vitreoretinopathy with phalangeal epiphyseal dysplasia (3) COL9A CRB ?Epiphyseal dysplasia, multiple, 6, (3), Autosomal ; Stickler syndrome, type IV, (3) Leber congenital amaurosis 8, (3); Pigmented paravenous chorioretinal atrophy, (3), Autosomal ; Retinitis pigmentosa-12, autosomal, (3), CRX Cone-rod retinal dystrophy-2, (3), Autosomal ; Leber congenital amaurosis 7, (3) CSPP Joubert syndrome 21, (3), CTNNA Macular dystrophy, patterned, 2, (3), Autosomal CYP4V Bietti crystalline corneoretinal dystrophy, (3), DHDDS Retinitis pigmentosa 59, (3), DHX No OMIM phenotype DMD Becker muscular dystrophy, (3), X-linked ; Cardiomyopathy, dilated, 3B, (3), X-linked; Duchenne muscular dystrophy, (3), X-linked 4/14

5 DRAM Cone-rod dystrophy 21, (3), DTHD No OMIM phenotype EFEMP Doyne honeycomb degeneration of retina, (3), Autosomal ELOVL EMC Ichthyosis, spastic quadriplegia, and mental retardation, (3), ; Spinocerebellar ataxia 34, (3), Autosomal ; Stargardt disease 3, (3), Autosomal Cerebellar atrophy, visual impairment, and psychomotor retardation, (3), ERCC Cerebrooculofacioskeletal syndrome 1, (3), ; Cockayne syndrome, type B, (3), ; De Sanctis- Cacchione syndrome, (3), ; {Lung cancer, susceptibility to}, (3), ; {Macular degeneration, age-related, susceptibility to, 5}, (3); Premature ovarian failure 11, (3), Autosomal ; UV-sensitive syndrome 1, (3), EXOSC No OMIM phenotype EYS Retinitis pigmentosa 25, (3), FAM161A Retinitis pigmentosa 28, (3) FBLN Cutis laxa, autosomal 2, (3); Cutis laxa, autosomal, type IA, (3), ; Macular degeneration, age-related, 3, (3), Autosomal ; Neuropathy, hereditary, with or without age-related macular degeneration, (3), Autosomal FLVCR Ataxia, posterior column, with retinitis pigmentosa, (3), Autosomal FSCN Retinitis pigmentosa 30, (3) FZD Exudative vitreoretinopathy 1, (3), Autosomal ; Retinopathy of prematurity, (3), Autosomal GDF Klippel-Feil syndrome 1, autosomal, (3), Autosomal ; Leber congenital amaurosis 17, (3), Autosomal ; Microphthalmia with coloboma 6, digenic, (3), Autosomal ; Microphthalmia, isolated 4, (3) GNAT Night blindness, congenital stationary, autosomal 3, (3), Autosomal ;?Night blindness, congenital stationary, type 1G, (3), GNAT Achromatopsia 4, (3) GNB {Hypertension, essential, susceptibility to}, (3), Multifactorial; Night blindness, congenital stationary, type 1H, (3), Autosomal GNPTG Mucolipidosis III gamma, (3), GPR Night blindness, congenital stationary (complete), 1E, autosomal, (3), 5/14

6 GRK Oguchi disease-2, (3) GRM Night blindness, congenital stationary (complete), 1B, autosomal, (3), GUCA1A Cone dystrophy-3, (3), Autosomal ; Cone-rod dystrophy 14, (3), Autosomal GUCA1B Retinitis pigmentosa 48, (3) GUCY2D Cone-rod dystrophy 6, (3), Autosomal ; Leber congenital amaurosis 1, (3), HARS HGSNAT Charcot-Marie-Tooth disease, axonal, type 2W, (3), Autosomal ; Usher syndrome type 3B, (3), Mucopolysaccharidosis type IIIC (Sanfilippo C), (3), Autosomal ; Retinitis pigmentosa 73, (3), HK Hemolytic anemia due to hexokinase deficiency, (3), Autosomal ; Neuropathy, hereditary motor and sensory, Russe type, (3), ; Retinitis pigmentosa 79, (3), Autosomal HMCN {Macular degeneration, age-related, 1}, (3), Autosomal HMX Oculoauricular syndrome, (3), HTRA CARASIL syndrome, (3), ; Cerebral arteriopathy, autosomal, with subcortical infarcts and leukoencephalopathy, type 2, (3), Autosomal ; {Macular degeneration, age-related, 7}, (3); {Macular degeneration, agerelated, neovascular type}, (3) IDH3B Retinitis pigmentosa 46, (3) IFT Short-rib thoracic dysplasia 9 with or without polydactyly, (3), IFT Retinitis pigmentosa 71, (3), ; Short-rib thoracic dysplasia 10 with or without polydactyly, (3), Autosomal IFT ?Bardet-Biedl syndrome 19, (3), IFT Cranioectodermal dysplasia 3, (3), IFT No OMIM phenotype IMPDH Leber congenital amaurosis 11, (3); Retinitis pigmentosa 10, (3), Autosomal IMPG Macular dystrophy, vitelliform, 4, (3), Autosomal IMPG Macular dystrophy, vitelliform, 5, (3), Autosomal ; Retinitis pigmentosa 56, (3), INPP5E Joubert syndrome 1, (3), ; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, (3), Autosomal INVS Nephronophthisis 2, infantile, (3), IQCB Senior-Loken syndrome 5, (3), 6/14

7 ITM2B JAG Dementia, familial British, (3), Autosomal ; Dementia, familial Danish, (3), Autosomal ;?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, (3), Autosomal Alagille syndrome 1, (3), Autosomal ;?Deafness, congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, (3), Autosomal KCNJ Leber congenital amaurosis 16, (3), ; Snowflake vitreoretinal degeneration, (3), Autosomal KCNV Retinal cone dystrophy 3B, (3), KIAA No OMIM phenotype KIF Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, (3), Autosomal KIZ Retinitis pigmentosa 69, (3), KLHL Cold-induced sweating syndrome 3, (3); Retinitis pigmentosa 42, (3), Autosomal LAMA Poretti-Boltshauser syndrome, (3), LCA Leber congenital amaurosis 5, (3) LRAT LRIT Leber congenital amaurosis 14, (3), ; Retinal dystrophy, early-onset severe, (3), ; Retinitis pigmentosa, juvenile, (3), Night blindness, congenital stationary (complete), 1F, autosomal, (3), LRP [Bone mineral density variability 1], (3), Autosomal ; Exudative vitreoretinopathy 4, (3),, Autosomal ; Hyperostosis, endosteal, (3), Autosomal ; Osteopetrosis, autosomal 1, (3), Autosomal ; Osteoporosis-pseudoglioma syndrome, (3), Autosomal ; {Osteoporosis}, (3), Autosomal ; Osteosclerosis, (3), Autosomal ; van Buchem disease, type 2, (3), Autosomal LZTFL Bardet-Biedl syndrome 17, (3), MAK Retinitis pigmentosa 62, (3), MAPKAPK ?Macular dystrophy, patterned, 3, (3), Autosomal MERTK Retinitis pigmentosa 38, (3), MFN MFRP Charcot-Marie-Tooth disease, axonal, type 2A2A, (3), Autosomal ; Charcot-Marie-Tooth disease, axonal, type 2A2B, (3), ; Hereditary motor and sensory neuropathy VIA, (3), Autosomal Microphthalmia, isolated 5, (3), ; Nanophthalmos 2, (3) 7/14

8 MFSD MIR MKKS MKS MTTP MVK MYO7A NBAS Ceroid lipofuscinosis, neuronal, 7, (3), ; Macular dystrophy with central cone involvement, (3), Autosomal?Retinal dystrophy and iris coloboma with or without cataract, (3), Autosomal Bardet-Biedl syndrome 6, (3), ; McKusick- Kaufman syndrome, (3), Bardet-Biedl syndrome 13, (3), ; Joubert syndrome 28, (3), ; Meckel syndrome 1, (3), Abetalipoproteinemia, (3), ; {Metabolic syndrome, protection against}, (3), Autosomal Hyper-IgD syndrome, (3), ; Mevalonic aciduria, (3), ; Porokeratosis 3, multiple types, (3), Autosomal Deafness, autosomal 11, (3), Autosomal ; Deafness, autosomal 2, (3), ; Usher syndrome, type 1B, (3), Infantile liver failure syndrome 2, (3), ; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, (3), NDP Exudative vitreoretinopathy 2, X-linked, (3); Norrie disease, (3), X-linked NEK ?Retinitis pigmentosa 67, (3), NEUROD {Diabetes mellitus, noninsulin-dependent}, (3), Autosomal ; Maturity-onset diabetes of the young 6, (3) NMNAT Leber congenital amaurosis 9, (3), NPHP Joubert syndrome 4, (3), ; Nephronophthisis 1, juvenile, (3), ; Senior-Loken syndrome-1, (3), NPHP NPHP NR2E NR2F NRL NYX Meckel syndrome 7, (3), ; Nephronophthisis 3, (3), ; Renal-hepatic-pancreatic dysplasia 1, (3), Nephronophthisis 4, (3), ; Senior-Loken syndrome 4, (3), Enhanced S-cone syndrome, (3), ; Retinitis pigmentosa 37, (3),, Autosomal Bosch-Boonstra-Schaaf optic atrophy syndrome, (3), Autosomal Retinal degeneration, autosomal, clumped pigment type (3); Retinitis pigmentosa 27, (3), Autosomal Night blindness, congenital stationary (complete), 1A, X-linked, (3), X-linked 8/14

9 OAT OFD OPA Gyrate atrophy of choroid and retina with or without ornithinemia, (3), Joubert syndrome 10, (3), X-linked ; Orofaciodigital syndrome I, (3), X-linked ;?Retinitis pigmentosa 23, (3), X-linked ; Simpson-Golabi-Behmel syndrome, type 2, (3), X-linked Behr syndrome, (3), ; {Glaucoma, normal tension, susceptibility to}, (3);?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), (3); Optic atrophy 1, (3), Autosomal ; Optic atrophy plus syndrome, (3), Autosomal OPA OPN1LW methylglutaconic aciduria, type III, (3), ; Optic atrophy 3 with cataract, (3), Autosomal Blue cone monochromacy, (3), X-linked ; Colorblindness, protan, (3), X-linked OPN1MW Blue cone monochromacy, (3), X-linked ; Colorblindness, deutan, (3), X-linked OPN1SW Colorblindness, tritan, (3), Autosomal OTX PANK PAX Microphthalmia, syndromic 5, (3), Autosomal ; Pituitary hormone deficiency, combined, 6, (3), Autosomal ; Retinal dystrophy, early-onset, with or without pituitary dysfunction, (3), Autosomal HARP syndrome, (3), ; Neurodegeneration with brain iron accumulation 1, (3), Glomerulosclerosis, focal segmental, 7, (3), Autosomal ; Papillorenal syndrome, (3), Autosomal PCDH Deafness, autosomal 23, (3), ; Usher syndrome, type 1D/F digenic, (3),, Digenic ; Usher syndrome, type 1F, (3), PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, (3), PDE6A Retinitis pigmentosa 43, (3) PDE6B Night blindness, congenital stationary, autosomal 2, (3), Autosomal ; Retinitis pigmentosa-40, (3), Autosomal PDE6C Cone dystrophy 4, (3), PDE6G Retinitis pigmentosa 57, (3), PDE6H Achromatopsia 6, (3),, Autosomal ; Retinal cone dystrophy 3, (3),, Autosomal 9/14

10 PDZD PEX PEX {Retinal disease in Usher syndrome type IIA, modifier of}, (3), ; Usher syndrome, type IIC, GPR98/PDZD7 digenic, (3),, Digenic Heimler syndrome 1, (3), ; Peroxisome biogenesis disorder 1A (Zellweger), (3), ; Peroxisome biogenesis disorder 1B (NALD/IRD), (3), Autosomal Peroxisome biogenesis disorder 5A (Zellweger), (3), Autosomal ; Peroxisome biogenesis disorder 5B, (3), Autosomal PEX Peroxisome biogenesis disorder 9B, (3); Rhizomelic chondrodysplasia punctata, type 1, (3), PGK Phosphoglycerate kinase 1 deficiency, (3), X-linked PHYH Refsum disease, (3), PITPNM Cone-rod dystrophy 5, (3), Autosomal PLA2G [Fleck retina, familial benign], (3), PLK Microcephaly and chorioretinopathy, autosomal, 2, (3), PNPLA Boucher-Neuhauser syndrome, (3), Autosomal ;?Laurence-Moon syndrome, (3), ; Oliver-McFarlane syndrome, (3), ; Spastic paraplegia 39, autosomal, (3), POC1B Cone-rod dystrophy 20, (3), POMGNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, (3), ; Muscular dystrophydystroglycanopathy (limb-girdle), type C, 3, (3), Autosomal ; Retinitis pigmentosa 76, (3), PRCD Retinitis pigmentosa 36, (3) PRDM No OMIM phenotype PROM Cone-rod dystrophy 12, (3); Macular dystrophy, retinal, 2, (3), Autosomal ; Retinitis pigmentosa 41, (3), Autosomal ; Stargardt disease 4, (3) PRPF Retinitis pigmentosa 18, (3), Autosomal PRPF Retinitis pigmentosa 11, (3), Autosomal PRPF Retinitis pigmentosa 70, (3), Autosomal PRPF Retinitis pigmentosa 60, (3), Autosomal PRPF Retinitis pigmentosa 13, (3), Autosomal 10/14

11 PRPH Choroidal dystrophy, central areolar 2, (3), Autosomal ; Leber congenital amaurosis 18, (3),, Autosomal ; Macular dystrophy, patterned, 1, (3), Autosomal ; Macular dystrophy, vitelliform, 3, (3), Autosomal ; Retinitis pigmentosa 7 and digenic, (3),, Autosomal ; Retinitis punctata albescens, (3),, Autosomal PRPS Arts syndrome, (3), X-linked ; Charcot-Marie-Tooth disease, X-linked, 5, (3), X-linked ; Deafness, X- linked 1, (3), X-linked; Gout, PRPS-related, (3), X-linked ; Phosphoribosylpyrophosphate synthetase superactivity, (3), X-linked RAB Cone-rod dystrophy 18, (3), RAX Cone-rod dystrophy 11, (3), Autosomal ;?Macular degeneration, age-related, 6, (3) RB Bladder cancer, somatic, (3); Osteosarcoma, somatic, (3); Retinoblastoma, (3), Autosomal, Somatic mutation; Retinoblastoma, trilateral, (3), Autosomal, Somatic mutation; Small cell cancer of the lung, somatic, (3) RBP ?Retinitis pigmentosa 66, (3), RBP Microphthalmia, isolated, with coloboma 10, (3), Autosomal ; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, (3), RCBTB Retinal dystrophy with or without extraocular anomalies, (3), RD Leber congenital amaurosis 12, (3), RDH ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, (3), RDH Leber congenital amaurosis 13, (3), RDH Fundus albipunctatus, (3),, Autosomal REEP Retinitis pigmentosa 77, (3), RGR Retinitis pigmentosa 44, (3) RGS Bradyopsia, (3) RGS9BP Bradyopsia, (3) RHO Night blindness, congenital stationary, autosomal 1, (3); Retinitis pigmentosa 4, autosomal or, (3),, Autosomal ; Retinitis punctata albescens, (3),, Autosomal RIMS Cone-rod dystrophy 7, (3) 11/14

12 RLBP ROM Bothnia retinal dystrophy, (3), ; Fundus albipunctatus, (3),, Autosomal ; Newfoundland rod-cone dystrophy, (3); Retinitis punctata albescens, (3),, Autosomal Retinitis pigmentosa 7, digenic, (3),, Autosomal RP Retinitis pigmentosa 1, (3),, Autosomal RP1L Occult macular dystrophy, (3), Autosomal RP Retinitis pigmentosa 2, (3), X-linked RP ?Retinitis pigmentosa 9, (3), Autosomal RPE Leber congenital amaurosis 2, (3), ; Retinitis pigmentosa 20, (3), RPGR RPGRIP RPGRIP1L Cone-rod dystrophy, X-linked, 1, (3), X-linked; Macular degeneration, X-linked atrophic, (3), X-linked ; Retinitis pigmentosa 3, (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, (3) Cone-rod dystrophy 13, (3); Leber congenital amaurosis 6, (3) COACH syndrome, (3), ; Joubert syndrome 7, (3), ; Meckel syndrome 5, (3), RS Retinoschisis, (3), X-linked RTN4IP Optic atrophy 10 with or without ataxia, mental retardation, and seizures, (3), SAG Oguchi disease-1, (3), ; Retinitis pigmentosa 47, (3) SAMD No OMIM phenotype SDCCAG Bardet-Biedl syndrome 16, (3), ; Senior-Loken syndrome 7, (3) SEMA4A SLC24A Cone-rod dystrophy 10, (3), ; Retinitis pigmentosa 35, (3),, Autosomal Night blindness, congenital stationary (complete), 1D, autosomal, (3), SLC25A Neuropathy, hereditary motor and sensory, type VIB, (3), SLC7A Retinitis pigmentosa 68, (3), SNRNP Retinitis pigmentosa 33, (3), Autosomal SPATA Leber congenital amaurosis 3, (3); Retinitis pigmentosa, juvenile, autosomal, (3) SPP No OMIM phenotype TEAD Sveinsson chorioretinal atrophy, (3), Autosomal TIMM8A Mohr-Tranebjaerg syndrome, (3), X-linked 12/14

13 TIMP Sorsby fundus dystrophy, (3), Autosomal TLR {HIV1 infection, resistance to}, (3); {Herpes simplex encephalitis, susceptibility to, 2}, (3) TLR No OMIM phenotype TMEM126A Optic atrophy 7, (3), TMEM Joubert syndrome 2, (3), ; Meckel syndrome 2, (3), TMEM Joubert syndrome 14, (3), TOPORS Retinitis pigmentosa 31, (3) TREX TRIM TRNT Aicardi-Goutieres syndrome 1, and, (3),, Autosomal ; Chilblain lupus, (3), Autosomal ; {Systemic lupus erythematosus, susceptibility to}, (3), Autosomal ; Vasculopathy, retinal, with cerebral leukodystrophy, (3), Autosomal?Bardet-Biedl syndrome 11, (3), ; Muscular dystrophy, limb-girdle, type 2H, (3), Retinitis pigmentosa and erythrocytic microcytosis, (3), Autosomal ; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, (3), TRPM Night blindness, congenital stationary (complete), 1C, autosomal, (3) TSPAN Exudative vitreoretinopathy 5, (3), Autosomal TTC Bardet-Biedl syndrome 8, (3), ;?Retinitis pigmentosa 51, (3), TTLL Cone-rod dystrophy 19, (3), TTPA Ataxia with isolated vitamin E deficiency, (3), TUB ?Retinal dystrophy and obesity, (3), TUBGCP Microcephaly and chorioretinopathy, autosomal, 3, (3), TUBGCP TULP UNC Microcephaly and chorioretinopathy, autosomal, 1, (3), Leber congenital amaurosis 15, (3), ; Retinitis pigmentosa 14, (3),?Cone-rod dystrophy (3);?Immunodeficiency 13, (3), Autosomal USH1C Deafness, autosomal 18A, (3), ; Usher syndrome, type 1C, (3), USH1G Usher syndrome, type 1G, (3), USH2A Retinitis pigmentosa 39, (3); Usher syndrome, type 2A, (3), VCAN Wagner syndrome 1, (3), Autosomal 13/14

14 WDPCP WDR ?Bardet-Biedl syndrome 15, (3), ;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, (3),?Cranioectodermal dysplasia 4, (3), ; Nephronophthisis 13, (3), ; Senior-Loken syndrome 8, (3), ;?Short-rib thoracic dysplasia 5 with or without polydactyly, (3), WFS ?Cataract 41, (3), Autosomal ; Deafness, autosomal 6/14/38, (3), Autosomal ; {Diabetes mellitus, noninsulin-dependent, association with}, (3), Autosomal ; Wolfram syndrome, (3), ; Wolframlike syndrome, autosomal, (3), Autosomal WHRN ZNF ZNF Deafness, autosomal 31, (3), ; Usher syndrome, type 2D, (3),?Exudative vitreoretinopathy 6, (3), Autosomal ; Retinitis pigmentosa 72, (3), Joubert syndrome 19, (3),, Autosomal ; Nephronophthisis 14, (3),, Autosomal ZNF ?Retinitis pigmentosa 58, (3), Gene symbols used are according to the HGNC guidelines. For some genes a previously HGNCapproved symbol is in brackets. Each Phenotype is followed by its MIM number, phenotype mapping key and inheritance pattern. OMIM release used for OMIM disease identifiers and descriptions: June 06, 2017 Possible phenotype mapping keys (1) the disorder is placed on the map based on its association with a gene, but the underlying defect is not known (2) the disorder has been placed on the map by linkage; no mutation has been found (3) the molecular basis for the disorder is known; a mutation has been found in the gene (4) a contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype Brackets, "[ ]", indicate "nondiseases," mainly genetic variations that lead to apparently abnormal laboratory test values (e.g., dysalbuminemic euthyroidal hyperthyroxinemia). Braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria). A question mark, "?", before the phenotype name indicates that the relationship between the phenotype and gene is provisional. More details about this relationship are provided in the comment field of the map and in the gene and phenotype OMIM entries. 14/14