CilioPathy panel. 3-Jul-2018 (102 genen) Centrum voor Medische Genetica Gent. versie. OMIM gene ID

Transcription

1 versie 3-Jul-2018 (102 genen) CilioPathy panel Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern AHI Joubert syndrome 3, (3), ANKS Nephronophthisis 16, (3), ARL13B Joubert syndrome 8, (3), ARL {Bardet-Biedl syndrome 1, modifier of}, (3),, Digenic ; Bardet-Biedl syndrome 3, (3), Autosomal ;?Retinitis pigmentosa 55, (3) ARMC Ciliary dyskinesia, primary, 23, (3), B9D Joubert syndrome 27, (3), ;?Meckel syndrome 9, (3), B9D Joubert syndrome 34, (3), ;?Meckel syndrome 10, (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), CC2D2A COACH syndrome, (3), ; Joubert syndrome 9, (3), ; Meckel syndrome 6, (3), CCDC Ciliary dyskinesia, primary, 17, (3), CCDC Ciliary dyskinesia, primary, 20, (3), CCDC Ciliary dyskinesia, primary, 30, (3), CCDC Ciliary dyskinesia, primary, 14, (3) CCDC Ciliary dyskinesia, primary, 15, (3) CCDC Ciliary dyskinesia, primary, 27, (3), CCNO Ciliary dyskinesia, primary, 29, (3), CEP Joubert syndrome 25, (3), CEP Joubert syndrome 31, (3), ; Short-rib thoracic dysplasia 13 with or without polydactyly, (3), 1/5

2 CEP Nephronophthisis 15, (3), 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 Joubert syndrome 15, (3), CEP Nephronophthisis 18, (3), CFAP298 (C21orf59) Ciliary dyskinesia, primary, 26, (3), CPLANE1 (C5orf42) Joubert syndrome 17, (3), ; Orofaciodigital syndrome VI, (3), CSPP Joubert syndrome 21, (3), DCDC ?Deafness, autosomal 66, (3), ; Nephronophthisis 19, (3), ; Sclerosing cholangitis, neonatal, (3), DNAAF Ciliary dyskinesia, primary, 13, (3), DNAAF Ciliary dyskinesia, primary, 10, (3) DNAAF Ciliary dyskinesia, primary, 2, (3), DNAAF Ciliary dyskinesia, primary, 25, (3), ; {Dyslexia, susceptibility to, 1}, (3), Autosomal dominant DNAAF Ciliary dyskinesia, primary, 18, (3), DNAH ?Ciliary dyskinesia, primary, 37, (3), ; Spermatogenic failure 18, (3), DNAH Ciliary dyskinesia, primary, 7, with or without situs inversus, (3), DNAH Ciliary dyskinesia, primary, 3, with or without situs inversus, (3) DNAH No OMIM phenotype DNAI Ciliary dyskinesia, primary, 1, with or without situs inversus, (3), DNAI Ciliary dyskinesia, primary, 9, with or without situs inversus, (3) DNAL Ciliary dyskinesia, primary, 16, (3), DRC Ciliary dyskinesia, primary, 21, (3), DYNC2H Short-rib thoracic dysplasia 3 with or without polydactyly, (3),, Digenic EVC Ellis-van Creveld syndrome, (3), ;?Weyers acrofacial dysostosis, (3), Autosomal dominant EVC Ellis-van Creveld syndrome, (3), ; Weyers acrofacial dysostosis, (3), Autosomal dominant GAS Ciliary dyskinesia, primary, 33, (3), GLIS Nephronophthisis 7, (3) IFT Cranioectodermal dysplasia 1, (3), 2/5

3 IFT IFT Retinitis pigmentosa 80, (3), ; Short-rib thoracic dysplasia 9 with or without polydactyly, (3), Autosomal Retinitis pigmentosa 71, (3), ; Short-rib thoracic dysplasia 10 with or without polydactyly, (3), Autosomal IFT INPP5E Short-rib thoracic dysplasia 2 with or without polydactyly, (3), 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), KIAA Joubert syndrome 23, (3), ; Short-rib thoracic dysplasia 14 with polydactyly, (3), KIF Acrocallosal syndrome, (3), ;?Al-Gazali- Bakalinova syndrome, (3), ;?Hydrolethalus syndrome 2, (3), ; Joubert syndrome 12, (3), LRRC Ciliary dyskinesia, primary, 19, (3), MCIDAS No OMIM phenotype MKKS Bardet-Biedl syndrome 6, (3), ; McKusick- Kaufman syndrome, (3), MKS Bardet-Biedl syndrome 13, (3), ; Joubert syndrome 28, (3), ; Meckel syndrome 1, (3), MRE Ataxia-telangiectasia-like disorder 1, (3), NEK {Amyotrophic lateral sclerosis, susceptibility to, 24}, (3); Short-rib thoracic dysplasia 6 with or without polydactyly, (3), Autosomal, Digenic NEK ?Nephronophthisis 9, (3); Renal-hepatic-pancreatic dysplasia 2, (3), NME Ciliary dyskinesia, primary, 6, (3), NPHP Joubert syndrome 4, (3), ; Nephronophthisis 1, juvenile, (3), ; Senior-Loken syndrome-1, (3), NPHP NPHP Meckel syndrome 7, (3), ; Nephronophthisis 3, (3), ; Renal-hepatic-pancreatic dysplasia 1, (3), Nephronophthisis 4, (3), ; Senior-Loken syndrome 4, (3), 3/5

4 OFD Joubert syndrome 10, (3), X-linked ; Orofaciodigital syndrome I, (3), X-linked dominant;?retinitis pigmentosa 23, (3), X-linked ; Simpson-Golabi-Behmel syndrome, type 2, (3), X-linked PDE6D ?Joubert syndrome 22, (3), PKD Polycystic kidney disease 2, (3), Autosomal dominant PKHD Polycystic kidney disease 4, with or without hepatic disease, (3), RPGR 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) RPGRIP1L COACH syndrome, (3), ; Joubert syndrome 7, (3), ; Meckel syndrome 5, (3), RSPH Ciliary dyskinesia, primary, 24, (3), RSPH Ciliary dyskinesia, primary, 32, (3), RSPH4A Ciliary dyskinesia, primary, 11, (3) RSPH Ciliary dyskinesia, primary, 12, (3) SDCCAG Bardet-Biedl syndrome 16, (3), ; Senior-Loken syndrome 7, (3) SPAG Ciliary dyskinesia, primary, 28, (3), TCTN Joubert syndrome 13, (3), TCTN Joubert syndrome 24, (3), ;?Meckel syndrome 8, (3), TCTN Joubert syndrome 18, (3), ; Orofaciodigital syndrome IV, (3), TMEM Joubert syndrome 16, (3), TMEM Joubert syndrome 2, (3), ; Meckel syndrome 2, (3), TMEM Joubert syndrome 20, (3), ; Meckel syndrome 11, (3), TMEM Joubert syndrome 14, (3), TMEM TRIM TTC21B {Bardet-Biedl syndrome 14, modifier of}, (3), ; COACH syndrome, (3), ; Joubert syndrome 6, (3), ; Meckel syndrome 3, (3), ; Nephronophthisis 11, (3), Autosomal?Bardet-Biedl syndrome 11, (3), ; Muscular dystrophy, limb-girdle, type 2H, (3), Nephronophthisis 12, (3),, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, (3), 4/5

5 TTC WDPCP WDR Bardet-Biedl syndrome 8, (3), ;?Retinitis pigmentosa 51, (3),?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), WDR WDR Short-rib thoracic dysplasia 11 with or without polydactyly, (3), Cranioectodermal dysplasia 2, (3), ; Short-rib thoracic dysplasia 7 with or without polydactyly, (3), Autosomal WDR Short-rib thoracic dysplasia 8 with or without polydactyly, (3), XPNPEP Nephronophthisis-like nephropathy 1, (3), ZMYND Ciliary dyskinesia, primary, 22, (3), ZNF Joubert syndrome 19, (3),, Autosomal dominant; Nephronophthisis 14, (3),, Autosomal dominant 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: July 04, 2018 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. 5/5