Heterotaxie PCD (Primaire ciliaire dyskinesie) panel

Transcription

1 Heterotaxie PCD (Primaire ciliaire dyskinesie) panel versie V1 (92 genen) Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern ACTC Atrial septal defect 5, (3), Autosomal ; Cardiomyopathy, dilated, 1R, (3), Autosomal ; Cardiomyopathy, hypertrophic, 11, (3), Autosomal ; Left ventricular noncompaction 4, (3), Autosomal ACVR2B Heterotaxy, visceral, 4, autosomal, (3) AK No OMIM phenotype ALMS Alstrom syndrome, (3), Autosomal recessive ANKS Nephronophthisis 16, (3), Autosomal recessive ARMC Ciliary dyskinesia, primary, 23, (3), Autosomal recessive BBS Bardet-Biedl syndrome 10, (3), Autosomal recessive BCL9L No OMIM phenotype BCOR Microphthalmia, syndromic 2, (3), X-linked BRAF Adenocarcinoma of lung, somatic, (3); Cardiofaciocutaneous syndrome, (3), Autosomal ; Colorectal cancer, somatic (3); LEOPARD syndrome 3, (3), Autosomal ; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, (3), Autosomal C21orf Ciliary dyskinesia, primary, 26, (3), Autosomal recessive CBL ?Juvenile myelomonocytic leukemia, (3), Autosomal, Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, (3), Autosomal CCDC Ciliary dyskinesia, primary, 17, (3), Autosomal recessive CCDC Ciliary dyskinesia, primary, 20, (3), Autosomal recessive CCDC Ciliary dyskinesia, primary, 30, (3), Autosomal recessive CCDC Ciliary dyskinesia, primary, 14, (3) CCDC Ciliary dyskinesia, primary, 15, (3) CCDC Ciliary dyskinesia, primary, 27, (3), Autosomal recessive CCNO Ciliary dyskinesia, primary, 29, (3), Autosomal recessive CENPF Stromme syndrome, (3), Autosomal recessive CEP CFAP53 (CCDC11) ?Bardet-Biedl syndrome 14, (3), Autosomal recessive; Joubert syndrome 5, (3), Autosomal recessive; Leber congenital amaurosis 10, (3); Meckel syndrome 4, (3), Autosomal recessive; Senior-Loken syndrome 6, (3), Autosomal recessive Heterotaxy, visceral, 6, autosomal recessive, (3), Autosomal recessive CFC Heterotaxy, visceral, 2, autosomal, (3), Autosomal 1/5

2 CHD CHARGE syndrome, (3), Autosomal ; Hypogonadotropic hypogonadism 5 with or without anosmia, (3), Autosomal CITED CRELD Atrial septal defect 8, (3), Autosomal ; Ventricular septal defect 2, (3), Autosomal Atrioventricular septal defect, partial, with heterotaxy syndrome, (3), Autosomal ; {Atrioventricular septal defect, susceptibility to, 2}, (3), Autosomal DNAAF Ciliary dyskinesia, primary, 13, (3), Autosomal recessive DNAAF Ciliary dyskinesia, primary, 10, (3) DNAAF Ciliary dyskinesia, primary, 2, (3), Autosomal recessive DNAAF4 (DYX1C1) DNAAF5 (HEATR2) DNAH Ciliary dyskinesia, primary, 25, (3), Autosomal recessive; {Dyslexia, susceptibility to, 1}, (3), Autosomal Ciliary dyskinesia, primary, 18, (3), Autosomal recessive?ciliary dyskinesia, primary, 37, (3), Autosomal recessive; Spermatogenic failure 18, (3), Autosomal recessive DNAH Ciliary dyskinesia, primary, 7, with or without situs inversus, (3), Autosomal recessive 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), Autosomal recessive DNAI Ciliary dyskinesia, primary, 9, with or without situs inversus, (3) DNAJB Ciliary dyskinesia, primary, 34, (3), Autosomal recessive DNAL Ciliary dyskinesia, primary, 16, (3), Autosomal recessive DRC Ciliary dyskinesia, primary, 21, (3), Autosomal recessive ELN Cutis laxa, autosomal, (3), Autosomal ; Supravalvar aortic stenosis, (3), Autosomal FOXH No OMIM phenotype GAS Ciliary dyskinesia, primary, 33, (3), Autosomal recessive GATA GATA Atrial septal defect 2, (3), Autosomal ; Atrioventricular septal defect 4, (3), Autosomal ;?Testicular anomalies with or without congenital heart disease, (3), Autosomal ; Tetralogy of Fallot, (3), Autosomal ; Ventricular septal defect 1, (3), Autosomal Atrial septal defect 9, (3), Autosomal ; Atrioventricular septal defect 5, (3), Autosomal ; Pancreatic agenesis and congenital heart defects, (3), Autosomal ; Persistent truncus arteriosus, (3); Tetralogy of Fallot, (3), Autosomal 2/5

3 GDF GJA Double-outlet right ventricle, (3); Right atrial isomerism, (3), Autosomal recessive; Tetralogy of Fallot, (3), Autosomal ; Transposition of great arteries, dextro-looped 3, (3), Autosomal Atrioventricular septal defect 3, (3), Autosomal ; Craniometaphyseal dysplasia, autosomal recessive, (3), Autosomal recessive; Erythrokeratodermia variabilis et progressiva 3, (3); Hypoplastic left heart syndrome 1, (3), Autosomal recessive; Oculodentodigital dysplasia, (3), Autosomal ; Oculodentodigital dysplasia, autosomal recessive, (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, (3), Autosomal ; Syndactyly, type III, (3), Autosomal GPC Simpson-Golabi-Behmel syndrome, type 1, (3), X-linked recessive; Wilms tumor, somatic, (3) HYDIN Ciliary dyskinesia, primary, 5, (3), Autosomal recessive INVS Nephronophthisis 2, infantile, (3), Autosomal recessive JAG Alagille syndrome 1, (3), Autosomal ;?Deafness, congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, (3), Autosomal LEFTY Left-right axis malformations (3) LRRC Ciliary dyskinesia, primary, 19, (3), Autosomal recessive MAP2K Cardiofaciocutaneous syndrome 3, (3) MAP2K Cardiofaciocutaneous syndrome 4, (3) MCIDAS No OMIM phenotype MED13L MEIS MKS Mental retardation and distinctive facial features with or without cardiac defects, (3), Autosomal ; Transposition of the great arteries, dextro-looped 1, (3), Autosomal Cleft palate, cardiac defects, and mental retardation, (3), Autosomal Bardet-Biedl syndrome 13, (3), Autosomal recessive; Joubert syndrome 28, (3), Autosomal recessive; Meckel syndrome 1, (3), Autosomal recessive NAT No OMIM phenotype NEK ?Nephronophthisis 9, (3);?Renal-hepatic-pancreatic dysplasia 2, (3), Autosomal recessive NKX Atrial septal defect 7, with or without AV conduction defects, (3), Autosomal ; Conotruncal heart malformations, variable, (3); Hypoplastic left heart syndrome 2, (3), Autosomal ; Hypothyroidism, congenital nongoitrous, 5, (3), Autosomal ; Tetralogy of Fallot, (3), Autosomal ; Ventricular septal defect 3, (3), Autosomal 3/5

4 NKX Conotruncal heart malformations, (3); Persistent truncus arteriosus, (3) NME Ciliary dyskinesia, primary, 6, (3), Autosomal recessive NODAL Heterotaxy, visceral, 5, (3), Autosomal NOTCH Adams-Oliver syndrome 5, (3), Autosomal ; Aortic valve disease 1, (3), Autosomal NOTCH NPHP NR2F NSD OFD Alagille syndrome 2, (3), Autosomal ; Hajdu-Cheney syndrome, (3), Autosomal Meckel syndrome 7, (3), Autosomal recessive; Nephronophthisis 3, (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, (3), Autosomal recessive Congenital heart defects, multiple types, 4, (3), Autosomal Beckwith-Wiedemann syndrome, (3), Autosomal ; Leukemia, acute myeloid, (1), Autosomal ; Sotos syndrome 1, (3), Autosomal Joubert syndrome 10, (3), X-linked recessive; Orofaciodigital syndrome I, (3), X-linked ;?Retinitis pigmentosa 23, (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, (3), X-linked recessive PIH1D Ciliary dyskinesia, primary, 36, X-linked, (3), X-linked recessive PTPN LEOPARD syndrome 1, (3), Autosomal ; Leukemia, juvenile myelomonocytic, somatic, (3); Metachondromatosis, (3), Autosomal ; Noonan syndrome 1, (3), Autosomal RAF Cardiomyopathy, dilated, 1NN, (3), Autosomal ; LEOPARD syndrome 2, (3); Noonan syndrome 5, (3) RIT Noonan syndrome 8, (3), Autosomal RPGR Cone-rod dystrophy, X-linked, 1, (3), X-linked; Macular degeneration, X-linked atrophic, (3), X-linked recessive; Retinitis pigmentosa 3, (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, (3) RSPH Ciliary dyskinesia, primary, 24, (3), Autosomal recessive RSPH Ciliary dyskinesia, primary, 32, (3), Autosomal recessive RSPH4A Ciliary dyskinesia, primary, 11, (3) RSPH Ciliary dyskinesia, primary, 12, (3) SHOC Noonan-like syndrome with loose anagen hair, (3), Autosomal SHROOM No OMIM phenotype SMAD No OMIM phenotype SOS ?Fibromatosis, gingival, 1, (3), Autosomal ; Noonan syndrome 4, (3), Autosomal SPAG Ciliary dyskinesia, primary, 28, (3), Autosomal recessive 4/5

5 TBX Conotruncal anomaly face syndrome, (3); DiGeorge syndrome, (3), Autosomal ; Tetralogy of Fallot, (3), Autosomal ; Velocardiofacial syndrome, (3), Autosomal TBX Holt-Oram syndrome, (3), Autosomal TTC Ciliary dyskinesia, primary, 35, (3), Autosomal recessive TTC Bardet-Biedl syndrome 8, (3), Autosomal recessive;?retinitis pigmentosa 51, (3), Autosomal recessive ZIC Congenital heart defects, nonsyndromic, 1, X-linked, (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, (3), X-linked recessive; VACTERL association, X-linked, (3), X-linked recessive ZMYND Ciliary dyskinesia, primary, 22, (3), Autosomal recessive ZNF Joubert syndrome 19, (3), Autosomal recessive, Autosomal ; Nephronophthisis 14, (3), Autosomal recessive, Autosomal 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. 5/5